Human Developmental Biology Resource (HDBR)

HDBR Project Title	Institution	Project Status	Publication
Investigating haemopoiesis during human fetal development	Wellcome Trust Sanger Institute, Cambridge	On Hold 200347
Investigating potentially conserved Blimp1/Prdm1 function in the developing embryo.	University of Oxford, Dunn School of Pathology	Ongoing 200346
Molecular characterisation of childhood brain tumours	University College London, Institute of Child Health	Ongoing 200341
Subretinal implantation and integration of retinal pigment epithelial cells via cell carrier with/without hydrogel encapsulation	Fraunhofer Institute for Biomedical Engineering (IBMT), Sulzbach/Saar, Germany	On Hold 200340
Studying the expression of candidate genes for neurodevelopmental disorders during human foetal brain development.	University of Edinburgh	Ongoing 200339
Generating 3D models of embryonic and fetal development	Newcastle University, Institute of Genetic Medicine, International Centre for Life	On Hold 200338
Folate One-Carbon Metabolism during human development	University College London, Institute of Child Health	Ongoing 200337
Somatic variation in the human immune system	Newcastle University, Human Dendritic Cell Lab, ICM, Framlington Place, Newcastle upon Tyne	On Hold 200336
Unraveling mechanisms of genome regulation to understand and improve human health	University of Connecticut Health Centre, Department of Genetics and Genome Sciences	Ongoing 200310
Understanding the molecular pathways of ocular and orbital tissue fusion in early human development	University College London, Institute of Ophthalmology	Ongoing 200293
Understanding how mitochondrial DNA changes during differentiation: comparison of stem cells and foetal tissue	University of Bergen, Department of Neurology, Haukeland University Hospital	Ongoing 200286
Uncovering novel genes underlying hearing loss	King's College London, Craniofacial Development and Stem Cell Biology, London	Ongoing 200322
Transcriptional control of dopamine neuron subtype specification in humans	MRC Toxicology Unit, Hodgkin Building, Leicester	Completed 200258
The role of carbohydrates in brain development	University of Edinburgh	Completed 200283
TBX1 Human Expression	University College London, GOS Institute of Child Health	Ongoing 200319
Sulf1/Sulf2 regulated striated muscle and non muscle differentiation	The Royal Veterinary College, London	Ongoing 200323
Subplate zone of the human brain: unsolved problems	University of Zagreb, Croatian Institute for Brain Research, School of MedicineSalata 12, Croatia, 10000	Ongoing 200284
Studying the interactions between blood vessels and neurogenesis	University College London, Institute of Child Health, Newlife Birth Defects Research Centre, Developmental Biology & Cancer Programme	On Hold 200297
Study of intellectual disability genes in human brain development	The Francis Crick Institute, Mill Hill Laboratory, London	On Hold 200300
Somatic adaptation and sex differences in human endocrine development and disease (Genital tubercle)	University College London, Instiute of Child Health	Ongoing 200333
Somatic adaptation and sex differences in human endocrine development and disease (Brain)	University College London, Institute of Child Health	Ongoing 200332
Somatic adaptation and sex differences in human endocrine development and disease (Adrenal Gland)	University College London, Institute of Child Health	Ongoing 200331
Role of WDR11 in hypogonadotrophic hypogonadism and Kallmann syndrome	St. George's Medical School, Cranmere Terrace, London, SW17 0RE	Completed 200264
Role of the primary lymphoedema genes in lymphatic development	St George's Medical School, University of London,Molecular and Clinical Sciences	Ongoing 200320
Role of subplate neurosecretion in early cortical circuit formation.	University of Oxford, Department of Physiology, Anatomy and Genetics	Ongoing 200312
Neuronal differentiation pathways in the human telencephalon	Newcastle University, Institute of Neuroscience	Ongoing 200288	Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex. The Transcription Factors COUP-TFI and COUP-TFII have Distinct Roles in Arealisation and GABAergic Interneuron Specification in the Early Human Fetal Telencephalon. Charting the protomap of the human telencephalon
Molecular and structural assessment of cardiogenesis	Newcastle University, Institute of Genetic Medicine	Ongoing 200317
Molecular and fate maps of prostatic stroma	University of Wisconsin-Madison, School of Veterinary Medicine	Ongoing 200327
Molecular anatomy of the developing human kidney	University of Southern California, 1425 San Pablo St., BCC 311, Los Angeles, CA90033	Ongoing 200265
Mechanisms underlying neuronal loss in human stem cell models of Down's syndrome	University College London, Institute of Child Health	Completed 200294
Mapping the Developing Human Neocortex by Massively Parallel Single Cell Analysis	University of California, William Walantus	Ongoing 200287
Investigation of the Palatal Uvula	University College London, Institute of Child Health	Ongoing 200313
Investigation of genetic and epigenetic regulation underlying human neural tube defects	University College London, Institute of Child Health	Ongoing 200318
Investigation of ciliopathy syndrome secondary to CEP164 mutations	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200257
Investigating the role of the adhesion receptor GPR56 in human islet development	King's College London, Division of Diabetes and Nutritional Sciences	Ongoing 200324
Investigating the role of extracellular matrix in human neocortical development.	Max Planck Institute of Molecular Cell Biology & Genetics, MPI-CBG, Pfotenhauerstr. 108	Ongoing 200274
Investigating the molecular pathology of developmental macular dystrophies	University College London, Moorfields Eye Hospital	Ongoing 200280
Investigating the initiation of the first heartbeat	University of Oxford, Department of Physiology, Anatomy and Genetics	Ongoing 200295
Investigating the human expression of ALX4 in the developing embryonic skeleton	Dr Willie Reardon, Our Lady's Children's Hospital, Crumlin, Dublin	Completed 200271
Investigating perinatal brain injury and repair	University of Edinburgh, The Queen's Medical Research Institute, 47 Little France Crescent	Completed 200275
Investigating neural crest defects in Turner syndrome	University College London, Institute of Child Health, 30 Guilford Street	Ongoing 200273
Investigating human haematopoietic stem cells and their regulation via the stroma microenvironment during foetal development	The Francis Crick Institute, 44 Lincoln's Inn Fields, London	Ongoing 200277
Investigating gene expression of human embryonic/fetal heart and lung in order to define cell populations using single cell RNA sequencing and flow cytometry.	University of Southampton, Human Development and Health Academic Unit Institute of Developmental Sciences	Ongoing 200316
Investigating and documenting human eye development	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Ongoing 200292
Immune Cells in Inflammatory Bowel Disease	King's College London, MRC Centre for Transplantation, Guy's Hospital	Ongoing 200291
Identification of the fetal target progenitor(s) in childhood leukaemia	University College London, Cancer Institute	Ongoing 200290	A Human IPS Model Implicates Embryonic B-Myeloid Fate Restriction as Developmental Susceptibility to B Acute Lymphoblastic Leukemia-Associated ETV6-RUNX1
Identification of molecular regulators of human amniotic epithelial fate	University of Cambridge, Physiological Laboratory, Department of Physiology, Developmental and Neuroscience	On Hold 200306
Identification of cell types and their embryonic origin in the developing human urethra.	University of Florida, 2033 Mowry Road, Gainesville	On Hold 200262
Human fetal cell atlas	Newcastle University, Institute of Genetic Medicine	Ongoing 200307
Human embryology & early fetal development: interaction with the Hanley Lab research programme	University of Manchester, AV Hill Building, Oxford Road, Manchester, M13 9PT	Ongoing 200304
Histological analysis of normal foetal cerebellar development	Seattle Children's Research Institute, 1900 9th Avenue, Seattle, Washington State	Ongoing 200266
Genomic trajectories across human fetal development	University of Exeter, RILD Building, Royal Devon & Exeter Hospital Campus	Ongoing 200303
Genomic, cellular and developmental reconstruction of infant MLL-AF4+ acute lymphoblastic leukemia	University of Barcelona, Josep Carreras Leukaemia Research Institute, Facultat de Medicina	Ongoing 200309
Genes and pathways underlying brain overgrowth and focal cortical malformations	Seattle Children's Research Institute, Center for Integrative Brain Research, USA	Ongoing 200329
Generating genome-wide maps of tissue-specific human enhancers active during tissue development.	Lawrence Berkeley National Laboratory, California, USA	On Hold 200315
Gene expression profiling of normal human fetal cerebellar development	Seattle Children's Research Institute, 1900 9th Avenue, Seattle, Washington State	Ongoing 200267
Gene expression analysis of a novel gene for human primary ciliary dyskinesia, PIH1D3.	University College London, Institute of Child Health, Genetics and Genomic Medicine, 30 Guilford St	Completed 200289
Gene expression analysis during heart development.	Newcastle University, Instiute of Genetic Medicine	Ongoing 200285
Further investigation in to the development of haematopoietic stem cells in the human embryo	University of Edinburgh, The University Court of The University of Edinburgh, Old College, South Bridge	Ongoing 200276
Extracellular matrix in the midbrain	University of Edinburgh, MRC Centre of Regenerative Medicine	Ongoing 200314
Expression study on human foetuses of class 3 semaphorin receptors and regulators during the development of GnRH and olfactory neurons.	University College London, Institute of Ophthalmology	Ongoing 200343
Expression study of a new gene involved in pontocerebellar hypoplasia	INSERM UMR1163, Institut IMAGINE, Paris	Completed 200298
Expression profiling of pre-B cells by RNA sequencing	Newcastle University, Leukaemia Research Cytogenetics Group, Northern Institute for Cancer Research, Wolfson Childhood Cancer Research Centre	Ongoing 200344
Expression of Rapgef5	King's College London	Ongoing 200308
Expression analyses of genes involved in endocrine development	Queen Mary University of London, Centre for Endocrinology, William Harvey Research Institute	Ongoing 200301
Expression analysis of genes in human fetal forebrain that are implicated in psychiatric disorders	University of Minnesota, Minneapolis	Completed 200299
Epigenomic changes in the developing human brain	Cardiff University, School of Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics	Completed 200272	Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain.
Epigenetic signatures in fetal development	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200120
Documenting differences in gene expression during human tooth development to understand the evolution of the primate dentition.	University of Florida, PO Box 103610, 2033 Mowry Road	Completed 200261
Differentiation of human fetal osteoblasts	University College London, The Institute of Women's Health, Lab based at the Institute of Child Health (ICH)	Ongoing 200302
Developmental origin of somatic mutations in the human brain	The University of Cambridge, Cambridge Biomedical Campus	Ongoing 200325
Developmental mechanisms of lumbosacral lipoma pathogenesis	University College London, Institute of Child Health	Ongoing 200342
Development of the retinal fovea	Harvard Medical School, Department of Genetics, NRB Room, 36077 Avenue, Louis Pasteur	Ongoing 200269	Fgf8 Expression and Degradation of Retinoic Acid Are Required for Patterning a High-Acuity Area in the Retina
CYP21A2 and CYP21A1P protein expression in human embryos	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200256
Comparison of human foetal DRG, human adult DRG and iPSC-derived neurons.	Pfizer, Neusentis/Neuroscience & Pain (Pfizer Ltd), The Portway Building (formerly UCB), Granta Park, Great Abington	Completed 200268
Comparative expression of human neurodevelopment genes in developing brain and brain organoids	University of Cambridge, MRC Laboratory of Molecular Biology	Completed 200296
Characterizing mosaicism and developmental abnormalities in human embryos with sex chromosome aneuploidies	Whitehead Institute for Biomedical Research and Howard Hughes Medical Institute, Cambridge, Massachusetts	On Hold 200281
Characterisation of the thalamus during early human brain development	Newcastle University, Institute of Neuroscience	Ongoing 200348
Characterization of Putative Zika Virus Receptors in the Developing Human Brain	University of Minnesota, Stem Cell Institute, Minneapolis	On Hold 200328
Characterisation of foregut submucosal glands during human development	University of Oxford, Ludwig Institute for Cancer Research	Ongoing 200321
Cellular and regulatory evolution of mammalian organs	Heidelberg University, Centre for Molecular Biology of Heidelberg University (ZMBH), Im Neuenheimer Feld 282	Ongoing 200326
Cardiac inflow in human embryos	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Complete 200101
Biodiversity Gallery	Hong Kong Science Museum	Completed 200255
Analysis of allele-specific enhancer activity in facial development	Institute of Human Genetics, Department of Genomics, Life & Brain Centre, Sigmund-Freud-Str. 25	On Hold 200334
Analysing AGR2 protein expression during human development	Barts Cancer Institute, Molecular Oncology Centre, Queen Mary University of London, John Vane Science Centre	Completed 200259
An analysis of human cranial gland development	King's College London, Centre for Craniofacial and Regenerative Biology	Ongoing 200345
An investigation of human mesenteric and peritoneal development.	University of Limerick, Castletroy, Ireland	On Hold 200330
A clinical and molecular genetic study of congenital eye developmental disorders	Oxford Brookes University, Oxford	Ongoing 200335
3D atlas of human embryonic brain development	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200083	The HUDSEN Atlas: a three-dimensional (3D) spatial framework for studying gene expression in the developing human brain. Regulation of cerebral cortical neurogenesis by the Pax6 transcription factor Building brains in a dish: Prospects for growing cerebral organoids from stem cells. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Understanding the genetic mechanisms of diabetes mellitus and sensorineural deafness	University College London, Institute of Child Health	Completed 200212
Underpinning epithelial stem cell science for regenerative therapies	The Francis Crick Institute, Brill Place, London	Ongoing 200249
Undergraduate Project: Investigating differential expression of nFATC1 exon 1A/1B isoforms in foetal heart.	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200242
Transcriptomic profiling from human embryonic left-side versus right-side midbrain and forebrain	Max Planck Institute for Psycholinguistics	Completed 200260	Left-Right Asymmetry of Maturation Rates in Human Embryonic Neural Development.
Transcriptomic profiling from human embryonic left-side versus right side brainstem and spinal cord.	Max Planck Institute for Psycholinguistics, Radboud University, Nijmegen	Completed 200206	Left-Right Asymmetry of Maturation Rates in Human Embryonic Neural Development.
Tooth tissue engineering	King's College London, Craniofacial Department	On Hold 200095	PKA regulatory subunit expression in tooth development. In-vitro regulation of odontogenic gene expression in human embryonic tooth cells and SHED cells.
Three-dimensional and molecular analysis of the development of the human heart	University of Amsterdam, Department of Anatomy, Embryology & Physiology, academic Medical Centre	Completed 200114	Molecular analysis of patterning of conduction tissues in the developing human heart.
The role of Notch signalling in progenitor cell fate choice and segmentation in the early vertebrate embryo.	University of Dundee, College of Life Sciences	Completed 200228
The roles of non-coding and protein coding genes in the evolutionary expansion of the cerebral cortex	University of Oxford, Dept of Physiology, Anatomy and Genetics, Le Gros Clark Building, South Parks Road, Oxford OX1 3QX	Completed 200091
The role of human fetal antigen presenting cells in tolerance and immunity	Newcastle University, Institute of Cellular Medicine Human Dendritic Cell Laboratory, Haematological Sciences, Ground Floor Leech Building The Medical School	Completed 200203
The role of Human DLG3 in the causation of Mental Retardation	University of Cambridge, Cambridge Institute of Medical Research, Wellcome /MRC Building, Addenbrookes Hospital	Completed 200048	Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
The role of Grainyhead-like 2 in human embryonic development	Monash University, Central Clinical School AMREP, Alfred Hospital, Prahran	Completed 200252
The role of ECM/integrin interactions in detrusor development	University College London	Completed 10102	Microarray interrogation of human metanephric mesenchymal cells highlights potentially important molecules in vivo.
The role of Arylamine N-acetyltransferases in the closure of the embryonic neural tube.	University of Oxford, Department of Pharmacology Mansfield Road	Completed 200013
The potential of a muscle troponin T gene in the analysis of human cardiac myopathies and its possible use as a diagnostic marker	The Royal Veterinary College, Dept of Basic Sciences, Royal College Street, London	Completed 10062	The slow skeletal muscle troponin T gene is expressed in developing and diseased human heart
The human fetal liver: development and response to maternal drug use	University of Aberdeen, Division of Applied Medicine, Institute of Medical Sciences, Foresterhill	Ongoing 200219
The pathomechanisms underlying malformations and disease of the great arteries	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200199
The germ stem cell niche in the human fetal testis and the origins of testicular cancer	Queens Medical Research Institute, Room C1.26, 47 Little France Crescent, Edinburgh	Ongoing 200209	Ibuprofen results in alterations of human fetal testis development
The genetics of congenital melanocytic naevi	University College London, Institute of Child Health	Completed 200205	Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.
The epidermoid formation and its affinity to congenital cholesteatoma	University College London	Completed 10064	Immunohistochemical characterisation of the epidermoid formation in the middle ear
The Effect of Ureteropelvic junction obstruction on Pax2 and TGFb2 expression in the renal pelvis	Manchester University	Completed 10083	Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction Molecular mechanisms of human embryogenesis: developmental pathogenesis of renal tract malformations.
The dynamics of human embryonic gut gene expression for understanding Hirschsprung disease	John Hopkins School of Medicine, McKusick-Nathans Institute of Genetic Medicine	Completed 200239	Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease.
The developmental biology and function of human foetal pancreatic beta cells	University College London, 30 Guilford Street, London	Completed 10093	Low levels of glucose transporters and K+ATP channels in human pancreatic beta cells early in development
The development of the pulmonary vasculature and its relationship to the developing heart	St. George's Medical School, Dept of Anat & Dev Biol, St Georges Hospital Medical School, Cranmer Terrace, London	Completed 10079	Regulation of bone morphogenetic protein signalling in human pulmonary vascular development
TFAP2A expression in the developing human eye	University of Oxford, Department of Human Anatomy and Genetics	Completed 10159	Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators
Sweat Gland Development	Rockefeller University, New York, USA	Completed 200241
Sulf1/Sulf2 gene expression in developing human muscle	The Royal Veterinary College, Dept of Basic Sciences, Royal College Street, London	Completed 10112	Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort Sulf2 gene is alternatively spliced in mammalian developing and tumour tissues with functional implications Mammalian Sulf1 RNA alternative splicing and its significance to tumour growth regulation.
Studying somatic stem cell plasticity and neural development in the context of tissue damage and repair	University College London, Institute of Child Health, London	Ongoing 200224	A matter of identity - Phenotype and differentiation potential of human somatic stem cells.
Study of genes causing abnormal cortical development	INSERM Unit 491, Faculty of Medicine Merseilles, Team "Genetics of mental retardation and cortical malformations", Faculty of Medicine La Timone 27, Bd. Jean Moulin	Completed 200052	Truncation of NHEJ1 in a patient with polymicrogyria
Specification of serotonergic nuclei in human brain development	Boston Children's Hospital, 300 Longwood Avenue Mailstop BCH3150, Boston, USA	Ongoing 200250
Spatiotemporal expression profile of SRPK3	University of Leicester, Robert Kilpatrick Clinical Sciences Building Leicester Royal Infirmary	Completed 200202
Spatial and Temporal expression studies of the novel FRMD7 gene	Leicester Royal Infirmary, Robert Kilpatrick Clinical Sciences Building	Completed 200102	The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus Abnormal retinal development associated with FRMD7 mutations Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
Skeletal Cell Differentiation and Tissue Engineering	University of Southampton, Bone & Joint Research Group, Human Development & Health, Institute of Developmental Sciences, Southampton	Ongoing 200229
SIX3 and SIX6 in human eye development	University College London, Institute of Opthalmology, Department of Pathology, 11-43 Bath Street	Completed 200026	Expression analysis of SIX3 and SIX6 in human tissues reveals differences in expression and a novel correlation between the expression of SIX3 and the genes encoding isocitrate dehyhrogenase and cadherin 18
Single cell RNA-seq analysis of allele-specific expression in human foetal brain	King's College London, The James Black Centre	Completed 200222
RIM1 in human brain development and function	University College London, Department of Experimental Epilepsy, Institute of Neurology, National Hospital for Neurology and Neuroscience	Completed 10109	Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation
RhoGAP3 - a novel gene with a putative role in mental retardation/cognition.	University of Heidelberg, Im Neuenheimer Feld 328	Completed 200024
Quality control and resource optimization	Newcastle University, Institute of Human Genetics, International Centre for Life	Completed 200035 / 10098	Enabling research with human embryonic and fetal tissue resources. MRC-Wellcome Trust Human Developmental Biology Resource: enabling studies of human developmental gene expression.
Proliferation status of human pancreatic progenitors	MRC Centre for Regenerative Medicine, SCRM Building, The University of Edinburgh	Completed 200254
Production of stem cell populations from umbilical cord blood for regenerative medicine	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200099
Primary human liver cell model for viral infection	University of Oxford, Peter Medawar Building for Pathogen Research South Parks Road	On Hold 200208	Tumor Necrosis Factor Inhibits Spread of Hepatitis C Virus Among Liver Cells, Independent from Interferons.
PLEKHG6 isoform 3, a primate specific mediator of cerebral corticogenesis	University of Otago, Dunedin School Medicine, New Zealand	Completed 200245
Origin of Cortical Species-specific Distinctions	Yale University, School of Medicine 333 Cedar Street, New Haven	Ongoing 200220
Ontological development of the coagulation system.	University College London, Cancer Institute	Completed 200234
Ocular Coloboma and Childhood Blindness: Investigating Molecular Pathways	University College London, Institute of Child Health	Ongoing 200235	Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Novel Genes Affecting the Timing of Puberty	Queen Mary University of London, Centre for Endocrinology, William Harvey Research Institute	On Hold 200305/200221
Molecular basis of brain and facial development	Harvard Medical School, Neurology Department NRB 266, 77 Avenue Louis Pasteur, Boston	Completed 200071	A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid
Molecular and Epigenetic analysis of the human autistic brain	Bar-Ilan University, Faculty of Medicine, Hanrietta Sold 8 Safed 13215	Completed 200210
Mesenchymal Stem Cells and Corneal Regeneration	University of Nottingham, Academic Ophthalmology, B Floor, Eye and ENT Centre, QMC University Hospital	Completed 200201
Mechanistic insights into genetic variants associated with congenital heart disease.	University of Manchester, Institute of Cardiovascular Sciences	Ongoing 200232
Mechanisms of vertebrate limb development and disease.	King's College London, Randall Division, Guy's Campus	On Hold 200227
Mapping neuronal structures associated with the developing human lower urinary tract.	University of Melbourne, Department of Anatomy and Neuroscience, Australia	Completed 200226
LRRTM1 expression in developing brain	University of Oxford, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford	Completed 10119	LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia
LMX1A a mediator of cerebral corticogenesis	University of Otago, Dunedin School of Medicine, New Zealand	Completed 200244
Jouberin expression in foetal brain, kidney and eye.	Newcastle University, Institute of Genetic Medicine, International Center for Life	Completed 200084	Investigating embryonic expression patterns and evolution of AHI1
Is hepatocyte nuclear factor-1 beta expressed in early human organogenesis?	University of Manchester	Completed 10065	Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development Expression of hepatocyte growth factor/scatter factor and its receptor, MET, suggests roles in human embryonic organogenes
Investigation of the signalling mechanisms involved in the development of intrinsic ganglia within the human lung	University College London, Neural Development Unit, Institute of Child Health, 30 Guilford Street, London	Completed 10125	Development of the enteric nervous system, smooth muscle and interstitial cells of Cajal in the human gastrointestinal tract
Investigation of the origin of trisomy 16 and trisomy 22	Newcastle upon Tyne Hospital Trust, Cytogenetics, Institute of Genetic Medicine, International Centre for Life	Completed 200105	Origin of trisomy: no evidence to support the ovarian mosaicism theory
Investigation of the genetic aetiology of intrauterine growth	Imperial College London, 4th Floor IRDB Hammersmith Site Du Cane Road W12 0NN	Completed 10124	Transcript and tissue specific imprinting of a tumour suppressor gene
Investigation of expression of candidate genes for congenital heart disease	University of Southampton, Division of Human Genetics, Duthie Building, Tremona Road, Southampton General Hospital,	Completed 200009	Narrowing the Critical Region within 11q24-qter for Hypoplastic Left Heart and Identification of a Candidate Gene, JAM3, Expressed during Cardiogenesis
Investigating the role of the UPF3B gene and nonsense mediated RNA decay (NMD) in mental retardation	Women's and Children's Hospital, Neurogenetics Laboratory, Department of Genetic Medicine	Completed 200163 / 10144	Transcriptome profiling of UPF3B/NMD - deficient lymphoblastoid cells from patients with various forms of intellectual disability
Investigating the role of the sonic hedgehog pathway during eye development	Oxford University, Department of Human Anatomy and Genetics	Completed 10133	Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways
Investigating the expression of Irx1 in human embryonic limbs	Univesity of Bath, Department of Bology and Biochemistry	Completed 10147	Comparison of Iroquois gene expression in limbs/fins of vertebrate embryos
Investigating Expression Patterns of candidate genes for Congenital heart Disease, localisaton	University of Southampton, Human Development and Health Academic Unit, Institute of Developmental Sciences, Southhampton General Hospital	Completed 200214
INSM1 & INSM2 in human development, evolution and disease	Northwestern University of Feingerg, Chicago, IL	Completed	Transient expression of the conserved zinc finger gene INSM1 in progenitors and nascent neurons throughout embryonic and adult neurogenesis
Immunocytochemical characterisation of olfactory ensheathing cells in the developing human olfactory system	University College London, Institute of Neurology,e	Completed 200213	Common olfactory ensheathing glial markers in the developing human olfactory system
Identification of tissue-specific human enhancers active during craniofacial development	University of California, 1 Cryclotron Road MS84-171 Berkeley,	Completed 200198
Identification of splicing events specific to childhood cancers using High Throughput Sequencing	Newcastle University, International Centre for Life, Newcastle Upon Tyne	Completed	Post-transcriptional exon shuffling events in humans can be evolutionarily conserved and abundant
Identification of markers for cross-stage comparison in brain and heart	Newcastle University, Institute of Human Genetics, International Centre for Life	Completed	From spatial-data to 3D models of the developing human brain
Identification of human orofacial enhancers and their role in orofacial clefts	University of Connecticut, UConn Health Department of Genetics and Gemone Sciences, Connecticut	Ongoing 200225	High Resolution Epigenomic Atlas of Early Human Craniofacial Development
Identification of cell types in the embryonic and adult human urothelium	Columbia University, Medical Centre ICRC 1130 Saint Nicholas Avenue Mail Code: Room 311	Ongoing 200215	MP42-04 Characterizing development of the human lower urinary tract: anatomic features and molecular expression of the ureteric bud and cloaca.
How do antiphospholipid antibodies affect trophoblast cells in physiological hypoxia?	University College London, Centre for Rheumatology Research	Completed 200238
High-throughput Genomics and Transcriptomics of fetal and embryonic tissues	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200197	HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development
Hepatocyte Growth Factor (HGF) and c-met (its recptor) expression in early liver development	University of Birmingham, Division of Reproductive & Child Health Birmingham Women's Hospital Edgbaston	Completed	Differences between human and mouse alpha-fetoprotein expression during early development
Genomic imprinting and epigenetic analysis of embryonic development	King's College London, Department of Medical and Molecular Genetics	Completed 200200
Generation and transplantation of pluripotent stem cell-derived photoreceptor precursors	University College London, Institute of Ophthalmology	Ongoing 200240	Recapitulation of Human Retinal Development from Human Pluripotent Stem Cells Generates Transplantable Populations of Cone Photoreceptors
Gene identification for Silver Russell Syndrome	King's College London, Department of Medical and Molecular Genetics	Completed	Transcript- and tissue-specific imprinting of a tumour suppressor gene
Gene Expression in Neurodegeneration with Brain Iron Accumulation	Oregon Health and Sciences University, 3181 SW Sam Jackson Park Road Mailcode L103a Portland	Completed	Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy
Gene expression in left ventricular outflow tract development	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Ongoing 200237
Further investigation of CDH8 as an autism candidate gene	Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington	Completed	Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8)
Functional characterisation of Mecklin (MKS3)	St. James's University Hospital, Section of Ophthalmology and Neurosciences, Wellcome Trust, Brenner Building, Leeds Institute of Molecular Medicine	Completed	The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
Forebrain patterning in human embryos	University College London, Neural Development Unit, Institute of Child Health	Completed	Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism
Folate metabolism during embryonic development	University College London, Institute of Child Health, Neural Development Unit	Completed	Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain
Expression studies of genes associated with mental retardation and other developmental brain disorders	Harvard Medical School, Neurology Department NRB 266 77 Avenue Louis Pasteur	Completed 200057	A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly Loss of PCLO function underlies pontocerebellar hypoplasia type III. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning
Expression of X-linked ADHD candidate gene STS in brain	Cardiff University, Department of Psychological Medicine	Completed 10152	Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder
Expression of type 1 and 2 Hydroxysteroid dehydrogenase (HSD) isoforms in embryonic life.	University of Birmingham, Division of Reproductive & Child Health, Birmingham Women's Hospital, Edgbaston	Completed 200003	The ontogeny of 25-hydroxyvitamin D(3) 1alpha-hydroxylase expression in human placenta and decidua
Expression of refractive error candidate genes in the developing eye	University College London, 30 Guilford Street	Completed	Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort.
Expression of hTERT	The Institute of Toxicology and Genetics (ITG), KarlsruheHermann von Helmholtz-Platz 1	Completed 200015
Expression of genes involved in outflow tract and aortic arch development in the human heart	Newcastle University, International Centre for Life, Newcastle upon Tyne	Completed 200036	Normal and abnormal development of the intrapericardial arterial trunks in humans and mice.
Expression of EPH receptors and ephrin ligands during early human brain development	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200246
Expression analysis of three genes (KIAA0319, TTRAP and THEM) on chromosome 6p22	University of Oxford, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford	Completed	The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration
Expression analysis of the human orthologue of chick myosin heavy chain 3 - a candidate gene for congenital heart defects?	University of Nottingham, School of Biomedical Sciences, Queens Medical Centre	Completed	Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart
Establishment of a Chronic Lymphocytic Leukemia Model in Humanized Mice	University College London, Cancer Institute	Completed 200248
Epigenetic profiling of embryonic hair folicles	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Ongoing 200204
DNA methylation in human development and congenital heart disease	University of Freidburg, Institute of Experimental and Clinical Pharmacology and Toxicology	Completed 200217
Directed differentiation of human embryonic stem cells to defined neocortical subtypes.	Rockefeller University, New York	Ongoing 200216
Differentiation of otic placodes from human pluripotent stem cells	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200218
Developmental Expression of the MUL gene	University College London, Department of Paediatrics, London,	Completed 10069	Expression of MUL, a gene encoding a novel RBCC family ring-finger protein. In human and mouse embryogenesis
Development and regulation of the human adrenal cortex during fetal life.	University of Southampton, Human Genetics Division Duthie Building, MP 808 Southampton General Hospital, Tremona Road	Completed	Steroidogenic enzyme expression within the adrenal cortex during early human gestation
Determining a tissue specific expression pattern of the human scEco1/CTF7 gene.	Newcaslte University, Institute of Genetic Medicine, International Centre for Life	Completed	Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
Derivation and characterization of neuroepithelial stem cells from human developing forebrain	Yale University, Yale School of Medicine, 333 Cedar Street, SHM C323-C	Ongoing 200211	Zika Virus Disrupts Phospho-TBK1 Localization and Mitosis in Human Neuroepithelial Stem Cells and Radial Glia.
Culture of human fetal liver cells	Royal Free and University College, Rowland Hill Street, London NW3 2PF	Completed	Growth factors improve gene expression after lentiviral transduction in human adult and fetal hepatocytes
Characterisation of progenitor cells in human foetal lungs	University of Cambridge, Gurdon Institute	Ongoing 200253	Lung epithelial tip progenitors integrate glucocorticoid- and STAT3-mediated signals to control progeny fate. Human embryonic lung epithelial tips are multipotent progenitors that can be expanded in vitro as long-term self-renewing organoids.
Complement 5a Receptor Signalling Prevents Folate Deficiency-Induced Neural Tube Defects	University of Queensland, School of Biomedical Sciences, Skerman Building (#65) St Lucia	Completed	C5a receptor signaling prevents folate deficiency-induced neural tube defects in mice
Communication between mother and fetus: imprinting and endocrine adaptations to pregnancy.	Queen Mary University London, Centre for Endocrinology, William Harvey Research Institute	Completed 200207
Breakdown of the endoderm during middle ear cavitation	King's College London, Craniofacial Development and Stem Cell Biology, Guy's Hospital, London	On Hold 200243
Biological function and clinical implications of the novel FRMD7 gene; the first gene to be associated with infantile nystagmus	Leicester University, Hodgkin Building, Lancaster Road	Completed 200081	The nystagmus associated FRMD7 gene regulates neuronal outgrowth and development
Assessment of cis-acting effects on the expression of neuropsychiatric genes	King's College London, Institute of Psychiatry, Centre for the Cellular Basis of Behaviour, James Black Centre, 125 Coldharbour Lane,	Completed 10178	Evidence that schizophrenia risk variation in the ZNF804A gene exerts its effects during fetal brain development Methylomic profiling of human brain tissue supports a neurodevelopmental origin for schizophrenia Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci.
Are telomerase splice variant present in human brain and contribute to its protection?	Newcastle University, Institute for Ageing Research/ICaMB, Ageing Research Laboratories, Edwardson Building, Campus for Ageing and Vitality	Completed 200233	Telomerase Activity is Downregulated Early During Human Brain Development
Are 'somatic' mitochondrial DNA mutations inherited or acquired? - extension to include pre-extracted DNA for genotyping studies	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200247
An open label study to assess the safety and efficacy of neural allo-transplantation with fetal ventral mesencephalic tissue in patients with parkinson's disease (TRANSEURO)	University of Cambridge, John van Geest Centre for Brain Repair	Completed 200251
An investigation of yolk sac function	University of Manchester, Maternal & Fetal Health Research Centre,St Mary's Hospital	Ongoing 200263
Analysis of the genome and transcriptome in primary paediatric malignant germ cell tumours	University of Cambridge, Hutchinson/MRC Research Centre, Cambridge	Completed 200068	Malignant germ cell tumors display common microRNA profiles resulting in global changes in expression of messenger RNA targets
Analysis of TBX20 gene expression in the developing heart and central nervous system	University College London, Institute of Child Health, Developmental Biology Unit, 30 Guilford Street, London	Completed 10111	Neuronal function of Tbx20 conserved from nematodes to vertebrates
Analysis of microRNAs during cerebral cortex development	Harvard Medical School, Neurology Department, Boston	Completed 200072	Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
Analysis of expression of genes in Xq12-21	INSERM U491, Medical Genetics and Development Faculty of Medicine La Timone 27, Bd. Jean Moulin	Completed 200023	Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients
Analysis of Brachyury and SOX2 gene expression patterns during body elongation and arrest	University of Dundee, WTB/MSI Complex College of Life Sciences Dow Street	Completed 200118	Loss of FGF - dependent mesoderm identity and rise of endogenous retinoid signalling determine cessation of body axix elongation FGF and retinoic acid activity gradients control the timing of neural crest cell emigration in the trunk.
A study of SHH expression in the developing human limb	University of Sheffield, Firth Court, Western Bank, Sheffield	Completed 200236
A role for SP Cells in cardiac development	Newcastle University, The Medical School, 3rd Floor William Leech Building, Framlington Place, Newcastle Upon Tyne	Completed 200059	The temporal and spatial expression patterns of ABCG2 in the developing human heart
A protein expression profile of the IgLON family members, outside of the brain.	The University of Edinburgh, Cancer Research UK Centre, Crewe Road South, Edinburgh	Completed 200051	OPCML is a broad tumor suppressor for multiple carcinomas and lymphomas with frequently epigenetic inactivation
Understanding the biology of normal development of the kidneys and urinary tract/Teashirt genes in the renal tract	University College London, Nephro-Urology Unit, 30 Guilford Street, London	Completed 10141	Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development Molecular mechanisms of human embryogenesis: developmental pathogenesis of renal tract malformations
Thyriod hormone action during early human embyonic development of the central nervous system	University of Birmingham, School of Clinical and Experimental Medicine, Birmingham Women's Hospital, Egbaston	Completed 200094	The expression of thyroid hormone transporters in the human fetal cerebral cortex during early development and in N-Tera-2 neurodifferentiation
Thyroid Receptor isoforms and deiodinase expression in the human embryo	University of Birmingham Division of Reproductive & Child Health Birmingham Women's Hospital Edgbaston Birmingham	Completed 200002	Glucocorticoid-induced apoptosis in human decidua: a novel role for 11 beta-hydroxysteroid dehydrogenase in late gestation
Tooth tissue engineering	King's College London, Craniofacial Department, Guy's Hospital, London	On Hold 200095	In-vitro regulation of odontogenic gene expression in human embryonic tooth cells and SHED cells
Transcriptional atlas of human brain development	Yale University, School of Medicine, Department of Neurobiology, PO Box 208001, New Haven	Completed 200107	Spatio-temporal transcriptome of the human brian
The genetics and developmental biology of vesicoureteric reflux	University College London	Completed 10103	De novo Uropakin IIIa mutations cause renal adysplasia leading to severe kidney failure Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction.
The genetics and biology of oral-facial-digital syndrome type 1 (OFD1): a cause of external malformation and polycystic kidney disease	University College London, Nephro-Urology Unit, 30 Guilford Street, London	Completed 10082	OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.
The role of Nogo in spinal cord development and regeneration	University College London, Developmental Biology Unit, 30 Guilford Street, London,	Completed 10092	Nogo and Nogo-66 receptors in embryonic human and chick: implications for development and regeneration
Side population cells in fetal lungs	University of Leicester. Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, Leicester	Completed 200086	Assessment of cis-acting effects on the expression of neuropsychiatric genes Oxygen dose responsiveness of human fetal airway smooth muscle cells. Fetal human airway smooth muscle cell production of leukocyte chemoattractants is differentially regulated by fluticasone
Short term primary culture of human neocortex	Newcastle University, Institute of Neuroscience	Completed 200110	In Vitro Modelling of Cortical Neurogenesis by Sequential Induction of Human Umbilical Cord Blood Stem Cells Distinct cortical and sub-cortical neurogenic domains for GABAergic interneuron precursor transcription factors NKX2.1, OLIG2 and COUP-TFII in early fetal human telencephalon An enhanced role and expanded developmental origins for gamma-aminobutyric acidergic interneurons in the human cerebral cortex.
Sex determination and differentiation during human fetal life.	University of Southampton Human Genetics Division Duthie Building, MP 808 Southampton General Hospital, Tremona Road Southampton	Completed	SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination
Screening and charaterisation of DAX1-interacting proteins	University College London, Biochemistry, Endocrinology and Metabolism, 30 Guilford Street, London	Completed	Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal. Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments Î²-Catenin Signaling ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland. CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease
Role of miRNAs in human neural retina specification	University College London	Completed	Effective Transplantation of Photoreceptor Precursor Cells Selected Via Cell Surface Antigen Expression Digenic Inheritance of Mutations in FOXC1 and PITX2 : Correlating Transcription Factor Function and Axenfeld-Rieger Disease Severity CYP1B1-Related Anterior Segment Developmental Anomalies Novel Mutations for Infantile Glaucoma and Von Hippel's Ulcer Revisited
Mechanisms underlying loss of regenerative capability in the developing spinal cord	University College London	Completed	FGFR1 down-regulation in differentiating human brain and spinal cord neurospheres Up-regulation of neural stem cell markers suggests the occurrence of dedifferentiation in regenerating spinal cord The developing human spinal cord contains distinct populations of neural precursors. Distinct neural precursors in the developing human spinal cord.
KIF21A and CHN1 expression during brainstem development	Harvard Medical School, Enders Research Building, Boston MA	Completed	Human CHNI mutations hyperactivate alpha2-chimaerin and cuase Duane's retraction syndrome Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extracular muscles type 1 (CFEOM1)
Investigation of the signalling mechanisms involved in human enteric nervous system development	University College London, Neural Development Unit, Institute of Child Health, 30 Guilford Street, London	Ongoing 200032	In vivo transplantation of fetal human gut‐derived enteric neural crest cells Enteric Nervous System Stem Cells Derived from Human Gut Mucosa for the Treatment of Aganglionic Gut Disorders Development of the neural crest-derived intrinsic innervations of the human lung Development of the enteric nervous system, smooth muscle and interstitial cells of Cajal in the human gastrointestinal tract.
Identifying genes which contribute to Cornelia de Lange syndrome	Newcastle University Department of Biochemistry and Genetics	Completed	NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.
Gene expression in human development studied in amplified cDNA preparations from human embryo, germ and fetal cells	University College London, 30 Guilford Street, London	Completed 10088	Expression of a testis-specific member of the olfactory receptor gene family in human primordial germ cells The use of aGene expression studies on human primordial germ cells and preimplantation embryos.mplified cDNA to investigate the expression of seven imprinted genes in human oocytes and preimplantation embryos Isolation of novel developmental genes from human germ cell, oocyte and embryo cDNAs by differential display Detection of human novel developmental genes in cDNA derived from replicate individual preimplantation embryos Identification of genes expressed in human primordial germ cells at the time of entry of the female germ line into meiosis Developmental expression of specific genes detected in high quality cDNA libraries from single human preimplantation embryos Human embryonic genes re-expressed in cancer cells Four zona pellucida glycoproteins are expressed in the human. Expression of imprinted genes in human preimplantation development. Gene expression studies on human primordial germ cells and preimplantation embryos.
Gene expression in autosomal recessive primary microcephaly	Cambridge University Hospitals NHS Foundation Trust, Addenbrookes Hospital, Hills Road, Cambridge	Completed	The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis WDR62 is associated with the spindle pole and is mutated in human microcephaly Human microcephaly.
Gene expression during craniofacial and brain development with particular emphasis on putative genes in the FGF signalling pathway	University College London, Institute of Child Health, Developmental Biology Unit, 30 Guilford Street, London	Completed	Fgf2 is expressed in human and murine embryonic choroid plexus and affects choroid plexus epithelial cell behaviour Changes in E2F5 intracellular localization in mouse and human choroid plexus epithelium with development The effect of fibroblast growth factor signalling on choroid plexus epithelium function and development. Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development.
Expression of Kallmann's syndrome genes in early development	University College London, Nephro_Urology Unit, Insitute of Child Health, 30 Guilford Street, London	Completed	Molecular pathogenesis of Jallmann's Syndrome Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome KAL, a gene mutated in Kallmann's syndrome, is expressed inthe first trimester of human development Anosmin-1 modulates fibroblast growth factor recptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism
Eurexpress project on human embryonic gene expression analyses (Eurexpress, a European consortium for large scale gene expression analysis by RNA in situ hybridisation)	Newcastle University, Department of Biochemistry and Genetics, Ridley Building Claremont Place Newcastle upon Tyne	Completed	Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes Mutational analysis and embryonic expression of the HLXB9 Currarino syndrome gene The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome Identification and characterisation of novel mammalian homologues of Drosophila polyhomeotic permits new insights into relationships between members of the polyhomeotic family
Does expression of ephrinB2 and EphB4 distinguish between primordial intrapulmonary arteries and veins?	University College London, Vascular Biology and Pharmacology, Institute of Child Heath, London	Completed 10073	Origin differentiation and maturation of human pulmonary veins Prenatal origins of human intrapulmonary arteries: formation and smooth muscle maturation
Cortical spinal system development, plasticity and repair: Towards a treatment for cerebral palsy	Sir James Spence Institute for Child Health, Royal Victoria Infirmary, Newcastle upon Tyne	Completed	An immunohistochemical study of the development of sensorimotor components of the early fetal human spinal cord Changing pattern of expression of parvalbumin immunoreactivity during human fetal spinal cord development A molecular neuroanatomical study of the developing human neocortex from 8 to 17 postconceptional weeks revealing the early differentiation of the subplate and subventricular zone. Progressive loss of PAX6, TBR2, NEUROD and TBR1 mRNA gradients correlates with translocation of EMX2 to the cortical plate during human cortical development.
Arealisation of gene expression in the human neocortex	Royal Victoria Infirmary, Newcastle upon Tyne	Completed 200109	The corticofugal neuron-associated genes ROBO1, SRGAP1, and CTIP2 exhibit and anterior to posterior gradient of expression in early fetal human neocortex development Progressive loss of PAX6, TBR2, NEUROD and TBR1 mRNA gradients correlates with translocation of EMX2 to the cortical plate during human cortical development A molecular neuroanatomical study of the developing human neocotex from 8 to 17 postconceptional weeks revealing the early differentiation of the subplate and subventricular zone Investigating gradients of gene expression involved in early human cortical development Renewed focus on the developing human neocortex The Early Fetal Development of Human Neocortical GABAergic Interneurons Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex. Subplate in the developing cortex of mouse and human.
Analysis of gene variants in growth genes of the normal population	University of Heidelberg Im Neuenheimer Feld 328 69120 Heidelberg, Germany	Completed 200096	Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression Seeing clearly: the dominant recessive nature of FOXE3 in eye development abnormalities Heterozygous mutations of OTX2 cause severe ocular malformations Replication of functional serotonin receptor type 3A and B variants in bipolar affective disorder: a European multicenter study.
Analysis of FOXP2	University College London, Institute of Child Health, Neural Development Unit, 30 Guilford Street, London	Completed 200034	FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder.
Analysis of T-Box gene expression during ocular development	University College London, Institute of Child Health, Developmental Biology Unit, London	Completed 10078	Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development Expression of Drosophila omb-related T-box genes in the developing human and mouse neural retina
An investigation of human pancreatic development	University of Southampton, Division of Human Genetics, Duthie Building, Tremona Road, Southampton General Hospital, Southampton	Completed 200004	Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes Beta cell differentiation during early human pancreas development Novel Sox9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland : potential interactions in gene regulation
ALX3/4 expression in the frontonasal process	University of Oxford, Weatherhall Institute of Molecular Medicine, John Radcliff Hospital, Oxford	Completed 10153	Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene
A combinatorial approach using sterodiogenic factor-1 (SF-1, NR5A1). This project was orignally called The NR5A subfamily of orphan nuclear receptors in human development and disease	University College London, Biochemistry, Endocrinology and Metabolism	Completed 10091	ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland. Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal Analysis of novel Steroidogenic factor-1 targets in the human adrenal gland Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease. Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. A genomic atlas of human adrenal and gonad development.
A clinical and molecular genetic study of congenital microphthalmos-anophthalmos	Oxford Brooks University, Faculty of Health and Life Sciences - 10096/200043	Ongoing 200270/200231	New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies. Seeing clearly: the dominant recessive nature of FOXE3 in eye development abnormalities Heterozygous mutations of OTX2 cause severe ocular malformations Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.
X linked imprinting effects on cognition	Cardiff University, Department of Psychological Medicine, Henry Wellcome Building, Heath Site, Cardiff	Completed 10129	Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder
Wilms Tumour: A Model of Disruption in Kidney Development	University College London, Institute of Child Health, 30 Guilford Street, London	Completed 200190
Vitamin A metabolism in early development	Newcastle University, School of Agriculture, Food Rural Development Agriculture Building, Newcastle upon Tyne	Completed 200156
Urothelial differentiation from amniotic fluid derived cells	University College London	Completed 10181
Urinary tract obstruction, PAX2 and TGFb1 in human dysplastic kidneys	University College London, Nephro-Urology Unit, 30 Guilford Street, London	Completed 10074	CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract Inflammatory mediators in human renal dysplasia. Mutation analyses of Uroplakin II in children with renal tract malformations
Understanding the role of Nanog during human embryonic development	Newcastle University, Institute of Human Genetic, International Centre for Life, Central Parkway, Newcastle upon Tyne	Completed 200038	Efficient hematopoietic differentiation of human embryonic stem cells on stromal cells derived from hematopoietic niches.
Understanding the function of NECDIN in Prader-Willi syndrome	IBDM Developmental Biology Institute of Marseille, NMDA Campus de Luminy Case 907 13288 Marseille cedex 09	Completed 200027
Understanding endothelial-vascular smooth muscle interactions in normal lung development	The University of Liverpool, Alder Hey Childern's Hospital, Eaton Road, Liverpool,	Completed 10126
Towards an electronic Atlas of the developing brain	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200022	3 dimensional modelling of early human brain development using optical projection tomography Anatomical and gene expression mapping of the ventral pallium in a three-dimensional model of developing human brain 3D modelling, gene expression mapping and post-mapping image analysis in the developing human brain JAtlasView: A Java Atlas-Viewer for browsing biomedical 3D images and atlases
Transplant of human embryonic stem cell and human induced pluripotent stem cell-derived photoreceptors into Crx, Prph2 and rd1 mice	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200126	Using Zinc Finger Nuclease Technology to Generate CRX-Reporter Human Embryonic Stem Cells as a Tool to Identify and Study the Emergence of Photoreceptors Precursors During Pluripotent Stem Cell Differentiation. IGF-1 Signaling Plays an Important Role in the Formation of Three-Dimensional Laminated Neural Retina and Other Ocular Structures From Human Embryonic Stem Cells.
Transdifferentiation of retinal pigment epithelium	University College Londond, Institute of Ophthalmology	Ongoing 10188	Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Transcriptional regulation of neural stem cell self-renewal and differentiation	University College London	Completed 200153
Transcriptional profiling of human cardiac and neural development in embryonic and fetal stages	Wellcome Trust Sanger institute, Hinxton, Cambridge	Completed 200189
TOP2B in neural development	Newcastle University, ICaMB, The Faculty of Medical Sciences	Completed 200191	Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon.
To understand human Mendelian neurodevelopmental disorders (continuance)	University of Cambridge, Cambridge Institute of Medical Research, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Long Road Cambridge	Completed 200181	Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication
To investigate whether biliary atresia has an infectiouscause in paediatric cohort using molecular techniques	King's College Hospital NHS Trust, Bessemer Wing, Dnemark Hill, London	Completed 200176
To Investigate functions of candidate genes in mitrochondrial disease with combined respiratory complex deficiency	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200133
The structure and function of novel divergent PRD class homeobox genes	University of Oxford Department of Zoology South Parks Road Oxford	Completed 10158
The role of TWIST in cranial development and suture fusion	University College London, Neural Development Unit, Institute of Child Health, 30 Guilford Street, London	Completed 10067
The role of transcription factors and other genes in the aetiology of hypopituitarism with or without forebrain defects	University College London, 30 Guilford Street, London	Completed 10131	Genetic regulation of pituitary gland development in human and mouse SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction
The role of the KRAB-Zn finger proteins ZNF224/225 and WT1 in development and disease	Newcastle University, Institute of Human Genetics International Centre for Life Central Parkway Newcastle Upon Tyne	Completed 200093
The role of Nogo in spinal cord development and regeneration	University College London, Developmental Biology Unit, London,	DUPLICATE	Nogo and Nogo-66 receptor in human and chick: implications for development and regeneration.
The role of MID1 during development	King's College London, Department of Craniofacial Development, London	Completed 10066
The Role of Grem1 and its interacting genes in human palate and lip development	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200148
The role of claudins in the human urinary tract in health and disease	University of York, Jack Birch Unit of Molecular Carcinogenesis, Department of Biology	Completed 10132
The role of cilla related genes in human embryonic lungs and kidney	Kingston University, Penrhyn Road Kingston-Upon-Thames	Completed 200127
The role of CEACAM1 and CEACAM20 in the development of prostate and prostate cancer.	City of Hope Institute California, 1500 E. Duarte Road, Duarte, CA 91010, USA	Completed 200141
The pathlogenesis of chordoma - a rare notochordal tumour	The Royal National Orthopaedic Hospital, Institue of Orthopaedics, Histopathologh , Brockley Hill, Stanmore, Middlesex.	Completed 10197
The overexpression of LARGE as a therapeutic approach in the Dystroglycanopathies	University College London, The Dubowitz Neuromuscular Centre	Completed 10187
The influence of bacteria and food antigens on T-cell retention and clonal expansions in the gut mucosa	The University of Bristol, Univeristy Dept of Medicine, Bristol Royal Infirmary, Bristol	Completed 10072
The fetal pathogenesis of Down syndrome leukaemias (continuation)	University of Oxford, Department of Paediatrics and Molecular Haematology Unit, Weatherall Institute of Molecular Medicine	Ongoing 200279/200149	MLL-AF4 Spreading Identifies Binding Sites that Are Distinct from Super-Enhancers and that Govern Sensitivity to DOT1L Inhibition in Leukemia. High resolution IgH repertoire analysis reveals fetal liver as the likely origin of life-long, innate B lymphopoiesis in humans
The fate and function of extracardiac cell populations in heart development and malformations	St. Georges Hospital Medical School, Dept of Anatomy and Developmental Biology, Cranmer Terrace, London	Completed 10080
The expression of the homeobox gene HSEX1 in the human embryo	University College London, 30 Guilford Street, London	Completed 10077
The expression of microcephalin in the fetal human brain	University of Leeds, St James University Hospital, Molecular Medicine Unit, CSB, Leeds	Completed 200025
The evolution of mammalian developmental transcriptomes	Heidelberg University, Center for Molecular Biology, Im Neuenheimer Feld 282	Completed 200174	The evolution of lncRNA repertoires and expression patterns in tetrapods
The control of the Feto-Placental Unit by Kisspeptin and Corticotropin Releasing Hormone (CRH): Potential novel insights into the pathogenesis of premature birth	Queen Mary University of London, Centre for Endocrinology, William Harvey Research Institute, Charterhouse Square, London EC1M6BQ	Completed 200160	Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome Kisspeptin is a novel regulator of human fetal adrenocortical development and function – a finding with important implications for the human feto-placental unit
The clinical diagnosis of viral disease in humans	Epsom and St Helier University Hospitals NHS Trust, Department of Medical Microbiology, West Park Hospital, Horton Lane, Epsom, Surrey,	Completed 10122
Study of gene expression that may regulate left-right brain asymetry	Harvard Medical School, Neurology Department NRB 266 77 Avenue Louis Pasteur Boston	Completed
Study of gene expression that may direct the vascularization of the developing cerebal hemispheres	Harvard Medical School Neurology Department NRB 266 77 Avenue Louis Pasteur Boston	Completed
Studies on Fetal Stem Cells	Nottingham University Hospitals NHS Trust, Department of Immunology, Queen's Medical Centre Campus Nottingham	Completed
Sodiuim channel splicing	University College London, Department of Clinical and Experimental Epilepsy Room 826 Queen Square House Institute of Neurology London	Completed
Second heart field derivatives in human congenital heart disease	Children's Hopital of Philadelphia, Rm 1108, BRBII/III 421 Curie Blvd Philadelphia	Completed
Routine clinical diagnosis	St. Mary's NHS Trust, Department of Virology, Jefferiss Wing - 2nd Floor Winsland Street, London	Completed
Roles of miRNAs in regulation of FOXP2 I early brain development	Louisiana State University, Neuroscience Centre of Excellence, Health Science Centre, 2020 Gravier Street, Lions Building Suit D, New Orleans LA 70112	Completed 200121
Role of TSPO in activation of microglia	Imperial College London, Hammersmith Hospital, London	Completed 200188
Role of the SCL gene in osteogenesis	Cambridge Institute of Medical Research Cambridge	Completed
Role of MCPH1 during cortical neurogenesis	INSERM U676, Hopital Robert Debre, 48 Boulevard Serurier, Paris	Completed
Retinal pigment epithelia microarray study	Pfizer Regenerative Medicine, Cambridge	Completed 200113
Regulator of retinal development	University College London, Institute of Opthalmology, Bath Street, London	Completed
Regulation of gene expression in cranial sutures of human fetuses	University of Oxford, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford	On Hold 200182
PLUNC's in oral health and disease	The University of Sheffield, Department of Oral Pathology School of Clinical Dentistry Claremont Cresent Sheffield	Completed 200069	BPI-fold (BPIF) containing/plunc protein expression in human fetal major and minor salivary glands.
PAX9 and PAX1 in craniofacial development	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed	Generation of Pax1/PAX1-Specific Monoclonal Antibodies.
Pax6 expression in early hindbrain development	University College London, Department of Biology, Wolfson House, London	Completed 10061
Organogenesis of the venous system of the lower limbs 3D reconstruction from slices using immuno markers	University of Paris, Descartes, Laboratory of Anatomy (PR Delmas), 45 rue des Saints Peres - 75006 - Paris	Completed 200154
Ontogenesis of pelvic outlet musculature in man	University of Reading, Petr Valasek, M.D., PhD. Lab of Prof. Ketan Pate,l School of Animal and Microbial Sciences	Completed
On the origin of Alzheimer's Desease	Warwick University, Department of Biological Sciences	Completed
On the Epigenic Regulation of EAAT-2	Max Planck Institute of Psychiatry Kraepelinst Munich	Completed
Newcastle slides sent to London	University College London, Dr Dianne Gerrelli Manager of the London HDBR Neural Development Unit, Institute of Child Health	Ongoing
Neuronal cell fate determination in human cerebral cortex	University of Cambridge, Gurdon Insititute, Tennis Court Road, Cambridge	Completed
Neuroepithelial stem cells from the human embryo	Wellcome Trust Centre for Stem Cell Research, Tennis Court Road, Cambridge, CB21QR	Completed
Neurodevelopmental trajectories of DNA methylation	King's College London, Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry	Completed 10196	Methylomic trajectories across human fetal brain development 5-hydroxymethylcytosine is highly dynamic across human fetal brain development
Molecular Pathology of Primary Pulmonary Hypertension	University of Leicester, Division of Medical Genetics, Departments of Medicine and Genetics	Completed	Regulation of bone morphogenetic protein signalling in human pulmonary vascular development.
Molecular pathology of epilesy	University College London, 30 Guilford street London	Completed
Molecular Mechanisms various genes involved in brain and visula systems development	King Saud University, College of Medicine, Riyadh	Completed
Molecular Genetics of Autosomal Recessive Eye Disease	University of Birmingham Medical and Molecular Genetics Egbaston	Completed
Modelling human neural development and response to insults in vitro	University College London, Institute of Child Health, 30 Guilford Street London	Completed 200175	Modulation of calcium-induced cell death in human neural stem cells by the novel peptidylarginine deiminase-AIF pathway.
Mitochondria and neural Stem Cells	Newcastle University Dept of Neurology 4th Floor The Medical School	Completed
MicroRNAs and human thyroid dysgenesis	INGEMM Institute for Medical and Molecular Genetics	Completed
Mechanisms of Development Biology in Skin	King's College London, Centre for Stem Cells and Regenerative Medicine	On Hold 200195	Mimicking the topography of the epidermal–dermal interface with elastomer substrates
Lower limbs lymphatics development	The Hospital Necker - Enfants Malades, 149 rue de Sevres 75743 Paris France	Completed 200172
Localisation of a novel transcript mutated in hypogonadotropic hypogonadism	Newcastle University, Institute of Human Genetics International Centre for Life Central Parkway Newcastle upon Tyne	Completed
Localisation and isolation of the genes for primary lymphoedema	St. George's University, Medical Genetics Unit, London	Completed 10068
KCNV2 expressio in human brain	University College London, Department of experimental epilepsy, Institute of Neurology, National Hospital for Neurology and Neuroscience, Queens Square, London	Completed
Isolation and characterization of embryonic muscle stem cells	University College London, Institute of Child Health, Department of Paediatric Surgery, London	Ongoing 200170
Isolation and characterisation of stem cells during development of the human heart	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed
Isolating foetal hepatocytes for Hepatitis C research	University of Oxford, Department of Biochemistry	Completed 200158
Investigation of the expression profile of PTPN11	St. George's Hospital Medical School, Dept of Anat and Dev Biol, Cranmer Terrace, London	Completed
Investigation of the endogenous channel modifier LYPD1 in the developing foetus	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed
Investigation of the effect of bile acids on the function of human cardiomyocytes	Imperial College London, Institute of Reproductive and Developmental Biology, London	Completed 200098
Investgation of RHOGAP3 expression in the early human embryo.	University of Heidelberg Im Neuenheimer Feld 328 69120 Heidelberg, Germany	Completed
Investigation of glial and neuronal regenerative mechanisms in epilepsy	University College London, Institute of Neurology, Queen Square, London	Completed 200186
Investigation of genetic etiology of developmental disorders	St. James University Hospital Wellcome Trust Brenner Building Leeds	Completed
Investigation of Bmp4 expression in human development	University of Oxford, Department of Human Anatomy and Genetics	Completed	Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
Investigating the role of CENPF during human fetal development	University College London, Institute of Child Health, London	Completed
Investigating the relationship between corneal structure and function	Cardiff University, School of Optometry and Vision Sciences	Ongoing 200130	Three-dimensional arrangement of elastic fibers in the human corneal stroma.
Investigating potentially conserved Blimp1/Prdm1 function in the embryonic gut	University of Oxford, Dunn School of Pathology, Oxford	Completed 200177	Blimp1/Prdm1 Functions in Opposition to Irf1 to Maintain Neonatal Tolerance during Postnatal Intestinal Maturation
Investigating mechanisms of sarcopenia	Newcastle University, Mitochondrial Research Group	Completed	Respiratory chain deficiency in aged spinal motor neurons
Increased viability and differentiation potential of transplanted neural stem cells by genetic manipulation	University of Nottingham, School of Biomedical Sciences, Medical School, Nottingham	Completed
In vitro effect of anti hypertensives on placental proteins	Univeristy College London, University College Hostpital, London	Completed 10169
Imprinted Genes in embryonic development	Guy's and St Thomas' Hospital NHS Trust, 8th Floor Guy's Tower London	Completed
Identification of biomarkers for selection of transplantation-competent human photoreceptor precursors for retinal cell therapy	University College London, Institute of Child Health, London	Ongoing 200179	Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease. Transplantation of Photoreceptor Precursors Isolated via a Cell Surface Biomarker Panel From Embryonic Stem Cell-Derived Self-Forming Retina.
Identification of a novel gene for primary microcephaly in humans	University College London, Institute of Child Health, The Dubowitz Neuromuscular Centre	Completed
Human-specific gene regulation in the developing embryo	Yale University, 333 Cedar Street New Haven CT	On Hold 200115	The evolution of lineage-specific regulatory activities in the human embryonic limb. Origin and evolution of developmental enhancers in the mammalian neocortex. Evolutionary genomics. Evolutionary changes in promoter and enhancer activity during human corticogenesis. High Resolution Epigenomic Atlas of Early Human Craniofacial Development
Human Sensory Neuron Differentiation	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200180
Human foetal dorsal root ganglion-derived cell line	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed
Human cortical development and evolution	University of Brussels, Institute of Interdisciplinary Research (IRIBHM) ULB, Campus Erasme, Bldg. C Room 6.113/6.111 808, Route de Lennik Brussels	Completed 200194/200311
HIV affects neural stem cells and adult brain cellse through the Kynurenine Pathway	King's College London James Black Centre 125 Coldhabor Lanes London	Completed
High Resolution 3D modelling of heart morphogenesis	National Institute for Medical Research (NIMR), The Ridgeway, Mill Hill, London	Completed	The embryological basis of subclinical hypertrophic cardiomyopathy.
HDBR embryo cDNA libraries (with HGMP)	King's College London, GKT School of Medicine, Guys Campus,	Completed	Detection of human novel developmental genes in cDNA derived from replicate individual preimplantation embryos
Gross morphology and histological study of abnormal embryos in HDBR (Newcastle)	Newcastle University, Institute of Human Genetics	Completed
Genetics and immunology of type 1 diabetes	Cambridge Institue for Medical Research, UDRF/WT Diabetes and inflammation laboratory, Wellcome Trust/MRC Buidling , Cambridge, CB2 OXY	Completed 10207
Genetic regulation of human endoderm and pancreas development	Stanford University, Beckman Centre, Stanford CA	Completed
Genetic determinants of neuronal migration in the brain	University of Otago, Dunedin School of Medicine	Completed	Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
Genetic and developmental analysis of Fraser Syndrome	University College London, Molecular Medicine, 30 Guilford Street, London,	Completed
Generation of human liver progenitors from naive induced pluirpotent stem cells	King's College London, Centre for Stem Cells and Regenerative Medicine & Institute of Liver Studies, Guy's Hospital	On Hold 10206
Generation of feeder cell lines to support the growth of undifferentiated human embryonic stem cell lines	UK Stem Cell Bank, National Institute for Biological Standards and Control	Completed 10145
Generation and characterisation of human fetal kidney stem/progenitor cells	University College London, Nephro-Urology Unit, London	On Hold 200166
Gene expression studies of the HDAC9 gene	Karolinska University Hospital, Unit of Clinical Genetics, Department of Molecular Medicine and Surgery CMM, L8:02 Stockholm	Completed
Gene expression of cell adhesion molecule L1 in developing human embryo	Newcastle University, Department of Biochemistry and Genetics, Ridley Building, Claremont Place, Newcastle upon Tyne	Completed
Gene Expression in the embryonic and fetal human brain	Boston Children's Hospital, 3 Blackfan St, CLS15049, Boston	Completed 200196	Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Gene Expression in Human Macula	University College London, Institute of Ophthalmology, London	On Hold 10161
Geminin expression in human placenta	Imperial College London Division of Surgery, Oncology, Reproductive Biology and Anaesthetics Charing Cross Campus Fulham Palace Road London	Completed 10138
GDI1 and RAB3A expression during human embryonic brain development	IGBE-CNR, Via Abbiategrasso 207, 27100, Pavia, Italy	Completed
Functional impact of a ZNF804A risk-SNP for schizophrenia and bipolar disorder	State University of New York, Upstate Medical University, Weiskotten Hall, Room 3271 766 Irving Avenue, Syracuse, NY	Completed 200185
Functional genetics of genes identified as determinants of lung function	University of Nottingham, Therapeutics & Molecular Medicine, Queen's Medical Centre Nottingham	On Hold 200223	HTR4 gene structure and altered expression in the developing lung. GSTCD and INTS12 Regulation and Expression in the Human Lung Translating Lung Function Genome-Wide Association Study (GWAS) Findings: New Insights for Lung Biology. The Ser82 RAGE Variant Affects Lung Function and Serum RAGE in Smokers and sRAGE Production In Vitro Developmental genetics of the COPD lung Genes associated with polymorphic variants predicting lung function are differentially expressed during human lung development.
Functional analysis of the MKKS gene mutated in BBS6 (Bardet-Biedl Syndrome 6)	University College London, Molecular Medicine Unit, Insitute of Child Health, London	Completed 10075
Formation of the Pulmonary Vein in the Human Embryo	University College London, 30 Guilford Street, London	Completed 10060
Formation of the earliest cortical circuits in the cerebral cortex	University of Oxford, Department of Physiology, Anatomy and Genetics.	Completed 200090	Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency.
Foetal hepatocyte therapy for acute liver failure and liver-based metabolic disease	King's College London, Hepatocyte Biology anf Transplantation Group, Institute of Liver Studies, Bessemer Road, London SE5 9PJ	Completed
Fluorescence lifetime imaging (FLIM) of human tissue	Imperial College London, Department of Histopathology 1st Floor L Block Hammersmith Hospital Du Cane Road, London	Completed
FGF receptor signalling during osteogenesis in human craniofacial development	University College London, 30 Guilford Street	Completed
Expression study of the gene encoding the catalytic subunit of telomerase, hTERT, during human development.	The Institute of Toxicology Hermann von Helmholtz-Platz 1 76344 Eggenstein-Leopoldshafen	Completed
Expression study of new gene involved in Joubert syndrome	University of California, Leitchtag Biomedical Research Building 3rd Floor Department of Neuroscience Medical School Campus, San Diego 9500 Gilman Drive M/C 0691 La Jolla,	Completed	Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
Expression studies of a novel developmental gene in human fetal heart	St. George's Medical School, Department of Clincal Developmental Sciences, Cranmer Terrace, Tooting, London	Completed 10097
Expression profile of the novel gene hmm262244 in the human fetal heart	University of Nottingham, School of Biomedical SciencesQueens Medical Centre	Completed 10194
Expression patterns of ZNF genes that are involved in mental retardation in human development	University of Nijmegen PO Box 9101 6500 HB Nijmegen	Completed 200066
Expression patterns of opticin in the central nervous system	University of Manchester, Wellcome Trust Centre for Cell-Matrix Research, Faculty of Life Sciences, Micheal Smith Building, Oxford Road, Manchester	Completed 200058
Expression of WHSC3 and WHSC5	University of Erlangen-Nuremberg Schwabachanlage 10 D91054 Erlangen Germany	Completed 200064
Expression of VANGL2 in the developing human heart	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200030
Expression of the STRO-1 antigen in human embryonic tissue	University of Bath, Claverton Down, Bath	Completed 10070
Expression of the schizophrenia candidate gene ZNF804A in brain	Cardiff University Department of Psychological Medicine Henry Wellcome Building Heath Site Cardiff	Completed 10162
Expression of Tbx-3 in renal scarring	Royal Free and University College Medical School, 7th Floor, Jules Thorn Building, Middlesex Hospital, Mortimer Street, London	Completed 10084
Expression of S100P calcium binding protein during human development	Queen Mary University of London, Molecular Oncology Centre, Barts Cancer Institute, John Vane Science Centre, Charterhouse Square, London	Completed 200161	The life and works of S100P - from conception to cancer.
Expression of RFX Transcription Factors During Mammalian Development	University College London	Completed 200184
Expression of Protocadherin X/Y in the developing human nervous system	University of Oxford, Warneford Hospital Oxford	Completed 200041
Expression of MMP11 during angiogenesis	Newcastle University, Institute of Human Genetics International Centre for Life Central Parkway Newcastle upon Tyne	Completed 200031
Expression of LHX3, LHX4 and ISL1 in inner ear	INSERM U781, 149 rue de Severs 75743 Paris Cedex 15 France	Completed 200092
Expression of key regulators of mammary development	Institute of Cancer Research, 237 Fulham Road, London	Completed 10142
Expression of Kallmann's syndrome genes in early development	University College London, Nephro-Urology Unit, 30 Guilford Street, London	Completed 200139	Molecular Pathogenesis of Kallmann’s Syndrome Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome. Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism. KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development.
Expression of innate immune molecules in human CNS	Cardiff University, Brain inflammation and immunity group, Medical biochemistry and immunology	Completed 10127
Expression of Gremlin and Induced in High Glucose 1 in early development	University College London, Nephro-Urology Unit, 30 Guilford Street, London	Completed 10106
Expression of Grainyhead-like genes	University College London, Institute of Child Health, Molecular Genetics	Completed 200167
Expression of four genes mutated in neurological diseases	St. George's Hospital Medical School, Dept of Anat & Dev Biol, Cranmer Terrace, London	Completed 10118
Expression of FGF mediators in embryonic tissue	University of Bath, Claverton Down, Bath	Completed 10071
Expression of EML1 in the developing cerebral cortex	University of Paris, Institut du Fer a Moulin Inserm UMRS 839/UPMC 17 Rue de Fer a Moulin 75005 Paris	Completed 200136
Expression of EFR3A	University College London	Completed 10182
Expression of craniorachischisis associated genes in the human embryo	University College London, Neural Development Unit, Institute of Child Health, 30 Guilford Street, London	Completed 10105
Expression of C1qRp during the emergence of intra-embryonic human haematopoiesis	London Research Institute, 44 Lincoln's Inn Fields, London	Completed 10094
Expression characterisatiuon of VP13 gene family members in the human embryo	University of Manchester, Centre for Molecular Medicine, Oxford Road, Manchester	Completed 200078
Expression analysis of genes important in hypothalamic-pituitary development	University College London, Institute of Child Health, Molecular Genetics, 30 Guilford Street, London	Ongoing 200178	The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Hypothalamic sonic hedgehog is required for cell specification and proliferation of LHX3/LHX4 pituitary embryonic precursors. MAPK pathway control of stem cell proliferation and differentiation in the embryonic pituitary provides insights into the pathogenesis of papillary craniopharyngioma.
Establishment of induced pluripotent stem cell derived cardiomyocyte lines for the investigation of Hypoplastic Left Heart Syndrome	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200137
Epigenetic signatures of human embryonic development in health and disease	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200082
Epigenetic reprogramming of human primordial germ cells	University of Cambridge, Tennis Court Road, Cambridge	Completed 200162
Environmental Exposures and Neurodevelopmental Disorders	Newcastle University, Wolfson Building, Claremont Place, Newcastle	Completed 200159
Effect of splicing factor concentration on key splices required for muscle development	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200033	The tissue-specific RNA binding protein T-STAR controls regional splicing patterns of neurexin pre-mRNAs in the brain.
Early development of the human forebrain	University of Oxford, University Laboratory of Physiology, Parks Road, Oxford	Ongoing 200106	Diversity of Cortical Interneurons in Primates: The Role of the Dorsal Proliferative Niche
Downstream targets of SHOX in the developing human embryo	University of Heidelberg, Im Neuenheimer Feld 328 69120 Heidelberg, Germany	Completed 200021
Dissecting the expression patterns of two isoforms of the gene PCSK6, a gene assiciated with handedness	University of Oxford, Roosevelt Drive, Oxford	Completed 200128
DISC1 pathway in early brain development	Western General Hospital, Crewe Road, Edinburgh	Completed 200076
Differentiation of human embryonic stem cells to sympathetic neurons as a model for understanding neuroblastoma pathogenesis	Newcastle University, Newcastle Cancer Centre at The Northern Institute for Cancer Research, The Medical School, Framlington Place	Completed 200183
Diagnostic clinical virology	University College London, Department of Virology, London	Completed 10123
Development of the forebrain medial wall and neocortex	Newcastle University, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne	Completed 200049
Development of the cardiac conduction system in human embryos	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200079
Development of Human Brain Asymmetry	University of California, 11000 Kinross Avenue Suite 200, Los Angeles CA	Completed 200119
Development of Haematopoietic Stem Cells in the Human Embryo	University of Edinburgh, MRC Centre for Regenerative Medicine	Completed 200192
Development of Embryonic Cell Cultures and Studies of Gene Expression	Newcastle University, Wolfson Building, Claremont Place, Newcastle	Completed 200061
Development and differentiation of the human foregut during fetal life.	University of Southampton, Human Genetics Division, Southampton General Hospital	Completed 200018
Determing the expression of AP2-alpha in the human embryo	King's College London, Division of Medical and Molecular Genetics, 8th floor Guy's Hospital Tower, Guy's Campus, London.	Completed 200012
Detailed PAX6 Expression in Brain and Heart	Western General Hospital, MRC Human Genetics Unit, Edinburgh	Completed 200074
Derivation and characterisation of neural progenital cell lines	University of Durham, School of Biological and Biomedical Science, South Road, Durham	Completed 200047
Defining the mithochondrial genetic bottleneck in humans	University of Cambridge, Department of Clinical Neurosciences, Cambridge	Ongoing 200282
CYP21 gene and pseudogene expression in human embryo	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200125
Culturing human dorsal root ganglion cells for testing of pain modifying pharmacological agent	Newcastle University, Institute of Neuroscience Framlington Place Newcastle upon Tyne	Completed 200169
Culture of Human olfactory ensheathing cells and stem cell	University of Glasgow, College of Medical Veterinary and Life Sciences	Completed 200122
Continuing the analysis of region-specific gene expression in human neural development: Comparison of in vivo and in vitro neurogenesi	University of Bonn, Sigmund-Freud Strasse 25 53127 Bonn	Completed 200164
Comparison of the expression of a novel cadherin in the mouse and human embryo	UK HGMP (Human Genome Mapping Project Resource Centre), Hinxton Hall, Hinxton Cambridgeshire	Completed 200014
Comparison of caudal neurulation modes between human and mouse embryos	University College London, Institute of Child Health, 30 Guilford Street, London	Ongoing 200173	Spina difida
COL6A6 expression in human development	Oregon Health and Sciences University, Dept of Orthopaedics, mailcode OP31, 3181 SW Sam Jackson Park Road Portland, Oregon	Completed 200112
Characterising the human embryonic epicardium in heart development	University of Oxford, Department of Physiology, Anatomy and Genetics	On Hold 200278/10176	Characterisation of the human embryonic and foetal epicardium during heart development.
Characterisation of VMD2 expression in the human embryo	University of Manchester, 3.722 Stopford Building, Oxford Road	Completed 200077
Characterisation of the development and differentiation of the human limbal stem cell	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200147
Characterisation of proliferating cells in the developing cerebral cortex	University of Oxford, University Laboratory of Physiology Parks Road Oxford	Completed 200046
Characterisation of cortically-derived human neural stem cells as a tool for neuropsychiatric drug discovery	King's College London, Institute of Psychiatry, Centre for the Cellular Basis of Behaviour	Completed 10177
Characterisation of CD4+T cell expansion after cord blood transplantation and its role in anitviral, regulatory and anti-leukaemic effects.	University College London, Institute of Child Health, 30 Guilford Street	Completed 10193
Cellular and molecular analysis of GNRH-1 neuronal development	University of Lille 2, Lille, Cedex, France	Completed 200145
Cell cycle markers in cortical dysplasia	University College London, Institute of Neurology, Division of Neuropathology, Queens Square London	Completed 10139
Cardiac inflow in human embryo	Newcastle University, International Centre for Life, Newcastle upon Tyne	Completed 200101	Clarification of the identity of the mammalian fifth pharyngeal arch artery
Ascertainment of ROR2 mutations in recessive Robinow syndrome and elucidation of the development profile of ROR1 and ROR2 in humans, from early embryo to adult	St. Georges Hospital Medical School, Dept of Anatomy and Development Biology, London	Completed 10063
Are 'somatic' mitochondrial DNA mutations inherited or acquired	Newcastle University, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne	Completed 200146
Apoptosis and gene expression in the human embryonic tail	University College London, Institute of Child Health, Neural Development Unit, 30 Guilford Street, London	Completed 10076
Analysis of XOS9 gene expression	Newcastle University, Institute of Human Genetic, International Centre for Life	Completed 200020
Analysis of the developmental expression of NBR1	Guy's Hospital, Cancer Genetics Laboratory, Dept of Medical and Molecular Genetics, 8th Floor, Guy's Tower, London	Completed 10087
Analysis of somatic human stem cells in vivo and in vitro	University College London, Institute of Child Health, 30 Guilford Street, London	Completed 10167
Analysis of region-specific gene expression in human neural development: Comparison of in vivo and in vitro neurogenesis	University of Bonn, Sigmund-Freud Strasse 25 53127 Bonn	Completed 200073	MicroRNA-Based Promotion of Human Neuronal Differentiation and Subtype Specification
Analysis of microRNA-related gene expression regulation	University of Heidelberg, Department of Human Molecular Genetics, Im Neuenheimer Feld 366, 69221 Heidelberg	Completed 200143
Analysis of GATA4 expression in the human embryonic liver	The University of Edinburgh, John Hughes Bennett Laboratory, Western General Hospital, Crewe Road, South Edinburgh	Completed 200055
Analysis of Fetal Cerebrospinal Fluid Exosome Content	Yale University, School of Medicine 429 FMB New Haven CT, 06520	Completed 200157	Embryonic cerebrospinal fluid nanovesicles carry evolutionarily conserved molecules and promote neural stem cell amplification.
Analysis of expression patterns of neurogenesis genes in the developing spinal cord	University of Dundee, College of Life Sciences, MSI/WTB complex Dow Street Dundee	Ongoing 200193
An investigation of human cardiac development	University of Southampton, Division of Human Genetics, Duthie Building, Tremona Road, Southampton General Hospital, Southampton	Completed 200005	Differences between human and mouse alpha-fetoprotein expression during early development JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype.
An eQTL study of the developing brain	Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford	Completed 10164
Adult stem cell tissue engineering to develop human liver for therapeutic intervention	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200104
Accessible Resource for Integrated Epigenomic Studies (ARIES)	Newcastle University, Institute of Genetic Medicine, International Centre for Life	Completed 200155	Data Resource Profile: Accessible Resource for Integrated Epigenomic Studies (ARIES).
A Study of the Muscles of the Soft Palate	University College London, Institute of Child Health, 30 Guilford Street, London	Completed 200187
A study of expression of the Dyggve Malchior Clausen syndrome gene during early human development	University of Leicester, Department of Genetics, University Road, Leicester	Completed 10115
A humanised mouse model	King's College London, Guy's Hospital, Great Maze Pond	Completed 10172
3D atlas of the developing human	Univeristy of Amsterdam	Completed 200140
1. Development of the Cerebral Cortex in mammals 2. SHH signalling and Interneuron progenitors in human SVZ 3. Development of \|Oligodendrocyte in the Human Fetal Brain relevance for MS	University of Connecticut, Department of Neuroscience, Farmington	Completed 200117	Diversity of cortical interneurons in primates: the role of the dorsal proliferative niche.