Publications using HDBR Material

Authors Year Title Journal Link
S. M. McGlacken-Byrne et. al. 2022 Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency JCI Insight https://doi.org/10.1172/jci.insight.154671
D. J. Henderson et. al. 2022 Development of the Human Arterial Valves: Understanding Bicuspid Aortic Valve Frontiers in Cardiovascular Medicine https://doi.org/10.3389/fcvm.2021.802930
R. Al-Jawahiri et. al. 2022 SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile Genetics in Medicine https://doi.org/10.1016/j.gim.2022.02.013
A Bhaduri et. al. 2021 An atlas of cortical arealization identifies dynamic molecular signatures Nature https://doi.org/10.1038/s41586-021-03910-8
P. Haldipur et. al. 2021 Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation Acta Neuropathologica https://doi.org/10.1007/s00401-021-02355-7 
D. Fawkner-Corbett et. al. 2021 Spatiotemporal analysis of human intestinal development at single-cell resolution Cell https://doi.org/10.1016/j.cell.2020.12.016
R. H. Anderson et. al. 2021 The morphogenesis of abnormal coronary arteries in the congenitally malformed heart J Thorac Cardiovasc Surg https://doi.org/10.1016/j.jtcvs.2021.08.084
J. Collin et. al. 2021 Co-expression of SARS-CoV-2 entry genes in the superficial adult human conjunctival, limbal and corneal epithelium suggests an additional route of entry via the ocular surface Ocul Surf https://doi.org/10.1016/j.jtos.2020.05.013
A. M. Ranzoni et. al. 2021 Integrative Single-Cell RNA-Seq and ATAC-Seq Analysis of Human Developmental Hematopoiesis Cell Stem Cell https://doi.org/10.1016/j.stem.2020.11.015
I. Bantounas et. al. 2021 The miR-199a/214 Cluster Controls Nephrogenesis and Vascularization in a Human Embryonic Stem Cell Model Stem Cell Reports https://doi.org/10.1016/j.stemcr.2020.11.007
K. E. MacDuffie et. al. 2021 Rescuing human fetal tissue research in the United States: A call for additional regulatory reform Stem Cell Reports https://doi.org/10.1016/j.stemcr.2021.10.016
L. Godfrey et. al. 2021 H3K79me2/3 controls enhancer–promoter interactions and activation of the pan-cancer stem cell marker PROM1/CD133 in MLL-AF4 leukemia cells Leukemia https://doi.org/10.1038/s41375-020-0808-y
I. S. Muskens et. al. 2021 The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis Nature Communications https://doi.org/10.1038/s41467-021-21064-z
A. Gualtieri et. al. 2021 Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans Nature Communications https://doi.org/10.1038/s41467-021-21712-4
M. D. Young et. al. 2021 Single cell derived mRNA signals across human kidney tumors Nature Communications https://doi.org/10.1038/s41467-021-23949-5
G. G. Giobbe et. al. 2021 SARS-CoV-2 infection and replication in human gastric organoids Nature Communications https://doi.org/10.1038/s41467-021-26762-2
S. Rice et. al. 2021 A human fetal liver-derived infant MLL-AF4 acute lymphoblastic leukemia model reveals a distinct fetal gene expression program Nature Communications https://doi.org/10.1038/s41467-021-27270-z
M. Spencer Chapman et. al. 2021 Lineage tracing of human development through somatic mutations Nature https://doi.org/10.1038/s41586-021-03548-6
M. Haniffa et. al. 2021 A roadmap for the Human Developmental Cell Atlas Nature https://doi.org/10.1038/s41586-021-03620-1
R. Elmentaite et. al. 2021 Cells of the human intestinal tract mapped across space and time Nature https://doi.org/10.1038/s41586-021-03852-1
L. Jardine et. al. 2021 Blood and immune development in human fetal bone marrow and Down syndrome Nature https://doi.org/10.1038/s41586-021-03929-x
M. Shibataet. al. 2021 Hominini-specific regulation of CBLN2 increases prefrontal spinogenesis Nature https://doi.org/10.1038/s41586-021-03952-y
M. Shibata et. al. 2021 Regulation of prefrontal patterning and connectivity by retinoic acid Nature https://doi.org/10.1038/s41586-021-03953-x
R. C. V. Tyser et. al. 2021 Single-cell transcriptomic characterization of a gastrulating human embryo Nature https://doi.org/10.1038/s41586-021-04158-y
S. Jansky et. al. 2021 Single-cell transcriptomic analyses provide insights into the developmental origins of neuroblastoma Nature Genetics https://doi.org/10.1038/s41588-021-00806-1
K. A. Aldinger et. al. 2021 Spatial and cell type transcriptional landscape of human cerebellar development Nature Neuroscience https://doi.org/10.1038/s41593-021-00872-y
E. Louka et. al. 2021 Heterogeneous disease-propagating stem cells in juvenile myelomonocytic leukemia J Exp Med https://doi.org/10.1084/jem.20180853
I. Žunić Išasegi et. al. 2021 Transient Subplate Sublayer Forms Unique Corridor for Differential Ingrowth of Associative Pulvinar and Primary Visual Projection in the Prospective Visual Cortical Areas of the Human Fetal Occipital Lobe Cerebral Cortex https://doi.org/10.1093/cercor/bhab197
D. Sun et. al. 2021 A functional genetic toolbox for human tissue-derived organoids bioRxiv https://doi.org/10.1101/2020.05.04.076067
F. McLeod et. al. 2021 Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy bioRxiv https://doi.org/10.1101/2021.09.22.461333
J. R. Harman et. al. 2021 A KMT2A-AFF1 gene regulatory network highlights the role of core transcription factors and reveals the regulatory logic of key downstream target genes Genome Res https://doi.org/10.1101/gr.268490.120
G. Reynolds et. al. 2021 Developmental cell programs are co-opted in inflammatory skin disease Science https://doi.org/10.1126/science.aba6500
I. Drissi et. al. 2021 Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly J Med Genet https://doi.org/10.1136/jmedgenet-2020-107237
J. R. Tejedor et. al. 2021 Integrative methylome-transcriptome analysis unravels cancer cell vulnerabilities in infant MLL-rearranged B cell acute lymphoblastic leukemia The Journal of Clinical Investigation https://doi.org/10.1172/JCI138833
S. M. McGlacken-Byrne et. al. 2021 ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency The Journal of Clinical Endocrinology & Metabolism https://doi.org/10.1210/clinem/dgab597
T. Rayon et. al. 2021 Single-cell transcriptome profiling of the human developing spinal cord reveals a conserved genetic programme with human-specific features Development https://doi.org/10.1242/dev.199711
L. C. Gregory et. al. 2021 The phenotypic spectrum associated with OTX2 mutations in humans Eur J Endocrinol https://doi.org/10.1530/eje-20-1453
T. R. Jackson et. al. 2021 The Origin of B-cells: Human Fetal B Cell Development and Implications for the Pathogenesis of Childhood Acute Lymphoblastic Leukemia Front Immunol https://doi.org/10.3389/fimmu.2021.637975
M. Rincic et. al. 2021 7p21.3 Together With a 12p13.32 Deletion in a Patient With Microcephaly-Does 12p13.32 Locus Possibly Comprises a Candidate Gene Region for Microcephaly? Front Mol Neurosci https://doi.org/10.3389/fnmol.2021.613091
S. L. Lindsay and S. C. Barnett 2021 Therapeutic Potential of Niche-Specific Mesenchymal Stromal Cells for Spinal Cord Injury Repair Cells https://doi.org/10.3390/cells10040901
L. Johnson Chacko et. al. 2021 Transcriptome-Wide Analysis Reveals a Role for Extracellular Matrix and Integrin Receptor Genes in Otic Neurosensory Differentiation from Human iPSCs International Journal of Molecular Sciences https://doi.org/10.3390/ijms221910849
M. W. Mather et. al. 2021 Development of a physiological model of human middle ear epithelium Laryngoscope Investigative Otolaryngology https://doi.org/10.1002/lio2.661
D. Eigel et. al. 2021 Sulfonated cryogel scaffolds for focal delivery in ex-vivo brain tissue cultures Biomaterials https://doi.org/10.1016/j.biomaterials.2021.120712
J. Collin et. al. 2021 A single cell atlas of human cornea that defines its development, limbal progenitor cells and their interactions with the immune cells The Ocular Surface https://doi.org/10.1016/j.jtos.2021.03.010
L. S. Hall et. al. 2020 Cis-effects on gene expression in the human prenatal brain associated with genetic risk for neuropsychiatric disorders Molecular Psychiatry https://doi.org/10.1038/s41380-020-0743-3
A. B. Palmos et. al. 2020 Telomere length and human hippocampal neurogenesis Neuropsychopharmacology https://doi.org/10.1038/s41386-020-00863-w
S. Campinoti et. al. 2020 Reconstitution of a functional human thymus by postnatal stromal progenitor cells and natural whole-organ scaffolds Nature Communications https://doi.org/10.1038/s41467-020-20082-7
S. L. Lindsay et. al. 2020 Multi-target approaches to CNS repair: olfactory mucosa-derived cells and heparan sulfates Nat Rev Neurol https://doi.org/10.1038/s41582-020-0311-0
A. Bhaduri et. al. 2020 Cell stress in cortical organoids impairs molecular subtype specification Nature https://doi.org/10.1038/s41586-020-1962-0
B. B. Cummings et. al. 2020 Transcript expression-aware annotation improves rare variant interpretation Nature https://doi.org/10.1038/s41586-020-2329-2
W. Sungnak et. al. 2020 SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes Nature Medicine https://doi.org/10.1038/s41591-020-0868-6
C. Muus et. al.r 2020 Integrated analyses of single-cell atlases reveal age, gender, and smoking status associations with cell type-specific expression of mediators of SARS-CoV-2 viral entry and highlights inflammatory programs in putative target cells bioRxiv https://doi.org/10.1101/2020.04.19.049254
J. R. Harman et. al. 2020 Phenotypic analysis of an MLL-AF4 gene regulatory network reveals indirect CASP9 repression as a mode of inducing apoptosis resistance bioRxiv https://doi.org/10.1101/2020.06.30.179796
P. A. Patkee et. al. 2020 Neurometabolite Mapping Highlights Elevated Myo-inositol Profiles within the Developing Brain in Down Syndrome bioRxiv https://doi.org/10.1101/2020.07.20.211805
G. Reynolds et. al. 2020 Poised cell circuits in human skin are activated in disease bioRxiv https://doi.org/10.1101/2020.11.05.369363
S. Rice et. al. 2020 A novel human fetal liver-derived model reveals that MLL-AF4 drives a distinct fetal gene expression program in infant ALL bioRxiv https://doi.org/10.1101/2020.11.15.379990
J.-E. Park et. al. 2020 A cell atlas of human thymic development defines T cell repertoire formation Science https://doi.org/10.1126/science.aay3224
T. Rayon et. al. 2020 Species-specific pace of development is associated with differences in protein stability Science https://doi.org/10.1126/science.aba7667
M. Heide et. al. 2020 Human-specific ARHGAP11B increases size and folding of primate neocortex in the fetal marmoset Science https://doi.org/10.1126/science.abb2401
E. M. Feneck et. al. 2020 Identification of a Primary Stroma and Novel Endothelial Cell Projections in the Developing Human Cornea Investigative ophthalmology & visual science https://doi.org/10.1167/iovs.61.6.5
P. Hua et. al. 2020 The BET inhibitor CPI203 promotes ex vivo expansion of cord blood long-term repopulating HSCs and megakaryocytes Blood https://doi.org/10.1182/blood.2020005357
A. Roy 2020 A "gut feeling" about precursor B-ALL Blood https://doi.org/10.1182/blood.2020008907
P. Winer et. al. 2020 Germline variants in predisposition genes in children with Down syndrome and acute lymphoblastic leukemia Blood Advances https://doi.org/10.1182/bloodadvances.2019001216
M. D. Tharmalingam et. al. 2020 Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer BMC Med https://doi.org/10.1186/s12916-020-01844-y
M. Nakatomi et. al. 2020 Msx1 deficiency interacts with hypoxia and induces a morphogenetic regulation during mouse lip development Development https://doi.org/10.1242/dev.189175
J. M. Fons et. al. 2020 Epithelial dynamics shed light on the mechanisms underlying ear canal defects Development https://doi.org/10.1242/dev.194654
L. A. Devlin et. al. 2020 Embryonic and foetal expression patterns of the ciliopathy gene CEP164 PLoS One https://doi.org/10.1371/journal.pone.0221914
J. M. Rieke et. al. 2020 SLC20A1 Is Involved in Urinary Tract and Urorectal Development Front Cell Dev Biol https://doi.org/10.3389/fcell.2020.00567
A. Alzu'bi et. al. 2020 Selective Expression of Nicotinic Receptor Sub-unit mRNA in Early Human Fetal Forebrain Front Mol Neurosci https://doi.org/10.3389/fnmol.2020.00072
T. Qiu et. al. 2020 Development of the Vestibular Lamina in Human Embryos: Morphogenesis and Vestibule Formation Front Physiol https://doi.org/10.3389/fphys.2020.00753
A. Güven et. al. 2020 Extracellular matrix-inducing Sox9 promotes both basal progenitor proliferation and gliogenesis in developing neocortex eLife https://doi.org/10.7554/eLife.49808
C. G. K. Ziegler et. al. 2020 SARS-CoV-2 Receptor ACE2 Is an Interferon-Stimulated Gene in Human Airway Epithelial Cells and Is Detected in Specific Cell Subsets across Tissues Cell https://doi.org/10.1016/j.cell.2020.04.035
L. Xing et. al. 2020 Serotonin Receptor 2A Activation Promotes Evolutionarily Relevant Basal Progenitor Proliferation in the Developing Neocortex Neuron https://doi.org/10.1016/j.neuron.2020.09.034
F. M. Lopes et. al. 2019 Overactivity or blockade of transforming growth factor-beta each generate a specific ureter malformation J Pathol https://doi.org/10.1002/path.5335 
C. B. Mellough et. al. 2019 Systematic Comparison of Retinal Organoid Differentiation from Human Pluripotent Stem Cells Reveals Stage Specific, Cell Line, and Methodological Differences Stem Cells Transl Med https://doi.org/10.1002/sctm.18-0267 
R. J. Holt et. al. 2019 De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies Am J Hum Genet https://doi.org/10.1016/j.ajhg.2019.07.005
K. A. Aldinger et. al. 2019 Redefining the Etiologic Landscape of Cerebellar Malformations Am J Hum Genet https://doi.org/10.1016/j.ajhg.2019.07.019
S. Desiderio et. al. 2019 Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA Cell Rep https://doi.org/10.1016/j.celrep.2019.02.097
M. Kostic et. al. 2019 YAP Activity Is Necessary and Sufficient for Basal Progenitor Abundance and Proliferation in the Developing Neocortex Cell Rep https://doi.org/10.1016/j.celrep.2019.03.091
L. C. Gregory et. al. 2019 Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation EBioMedicine https://doi.org/10.1016/j.ebiom.2019.03.013
R. Alharatani et. al. 2019 Expression of the guanine nucleotide exchange factor, RAPGEF5, during mouse and human embryogenesis Gene Expr Patterns https://doi.org/10.1016/j.gep.2019.119057
N. Kalebic, et. al. 2019 Neocortical Expansion Due to Increased Proliferation of Basal Progenitors Is Linked to Changes in Their Morphology Cell Stem Cell https://doi.org/10.1016/j.stem.2019.02.017
J. M. Segal et. al. 2019 Single cell analysis of human foetal liver captures the transcriptional profile of hepatobiliary hybrid progenitors Nat Commun https://doi.org/10.1038/s41467-019-11266-x
M. Cardoso-Moreira et. al. 2019 Gene expression across mammalian organ development Nature https://doi.org/10.1038/s41586-019-1338-5
I. Sarropoulos et. al. 2019 Developmental dynamics of lncRNAs across mammalian organs and species Nature https://doi.org/10.1038/s41586-019-1341-x
D.-M. Popescu et. al. 2019 Decoding human fetal liver haematopoiesis Nature https://doi.org/10.1038/s41586-019-1652-y
R. N. Doan et. al. 2019 Recessive gene disruptions in autism spectrum disorder Nat Genet https://doi.org/10.1038/s41588-019-0433-8
C. J. McCann et. al. 2019 Neuronal Development and Onset of Electrical Activity in the Human Enteric Nervous System Gastroenterology https://doi.org/10.1053/j.gastro.2018.12.020
J. M. Tilghman et. al. 2019 Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease N Engl J Med https://doi.org/10.1056/NEJMoa1706594
A. Alzu'bi, et. al. 2019 Thalamocortical Afferents Innervate the Cortical Subplate much Earlier in Development in Primate than in Rodent Cereb Cortex https://doi.org/10.1093/cercor/bhy327
C. H. Spurrell et. al. 2019 Genome-Wide Fetalization of Enhancer Architecture in Heart Disease bioRxiv https://doi.org/10.1101/591362
I. Kostovic et. al. 2019 Sublaminar organization of the human subplate: developmental changes in the distribution of neurons, glia, growing axons and extracellular matrix J Anat https://doi.org/10.1111/joa.12920
A. Alzu'bi and G. J. Clowry 2019 Expression of ventral telencephalon transcription factors ASCL1 and DLX2 in the early fetal human cerebral cortex J Anat https://doi.org/10.1111/joa.12971
B. J. Stewart et. al. 2019 Spatiotemporal immune zonation of the human kidney Science https://doi.org/10.1126/science.aat5031
P. Haldipur et. al. 2019 Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum Science https://doi.org/10.1126/science.aax7526
L. J. Ewans et. al. 2019 Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications J Med Genet https://doi.org/10.1136/jmedgenet-2019-106019
A. C. Houweling et. al. 2019 Loss-of-function variants in myocardin cause congenital megabladder in humans and mice J Clin Invest https://doi.org/10.1172/jci128545
R. Seselgyte et. al. 2019 Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family J Dent Res https://doi.org/10.1177/0022034519837245
T. H. N. Teshima et. al. 2019 Dual Sympathetic Input into Developing Salivary Glands J Dent Res https://doi.org/10.1177/0022034519865222
C. Bueno et. al. 2019 Natural history and cell of origin of TCF3-ZNF384 and PTPN11 mutations in monozygotic twins with concordant BCP-ALL Blood https://doi.org/10.1182/blood.2019000893
S. O'Byrne et. al. 2019 Discovery of a CD10-negative B-progenitor in human fetal life identifies unique ontogeny-related developmental programs Blood https://doi.org/10.1182/blood.2019001289
P. Hua et. al. 2019 Single-cell analysis of bone marrow–derived CD34+ cells from children with sickle cell disease and thalassemia Blood https://doi.org/10.1182/blood.2019002301
D. Sánchez-Martínez et. al. 2019 Fratricide-resistant CD1a-specific CAR T cells for the treatment of cortical T-cell acute lymphoblastic leukemia Blood https://doi.org/10.1182/blood-2018-10-882944
C. Melau et. al. 2019 Characterization of Human Adrenal Steroidogenesis During Fetal Development J Clin Endocrinol Metab https://doi.org/10.1210/jc.2018-01759
L. C. Gregory et. al. 2019 Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis J Clin Endocrinol Metab https://doi.org/10.1210/jc.2019-00631
C. B. Mellough et. al. 2019 An integrated transcriptional analysis of the developing human retina Development https://doi.org/10.1242/dev.169474
M. Ahmed et. al. 2019 Laminin alpha2 controls mouse and human stem cell behaviour during midbrain dopaminergic neuron development Development https://doi.org/10.1242/dev.172668
P. J. O'Shaughnessy et. al. 2019 Alternative (backdoor) androgen production and masculinization in the human fetus PLoS Biol https://doi.org/10.1371/journal.pbio.3000002
H. Hardy et. al. 2019 Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion eLife https://doi.org/10.7554/eLife.43877
C. M. Kolvenbach et. al. 2019 Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction The American Journal of Human Genetics https://doi.org/10.1016/j.ajhg.2019.03.023
S. Mayer et. al. 2019 Multimodal Single-Cell Analysis Reveals Physiological Maturation in the Developing Human Neocortex Neuron https://doi.org/10.1016/j.neuron.2019.01.027
T. Namba et. al. 2019 Human-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical Progenitors by Glutaminolysis Neuron https://doi.org/10.1016/j.neuron.2019.11.027
A. C. Thomas et. al. 2018 Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development Birth Defects Res https://doi.org/10.1002/bdr2.1183 
J. Liu et. al. 2018 Nestin-expressing cell types in the temporal lobe and hippocampus: Morphology, differentiation, and proliferative capacity Glia https://doi.org/10.1002/glia.23211 
F. Memi et. al. 2018 Multiple roles of Sonic Hedgehog in the developing human cortex are suggested by its widespread distribution Brain Struct Funct https://doi.org/10.1007/s00429-018-1621-5 
M. Felemban et. al. 2018 Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix Acta Biomater https://doi.org/10.1016/j.actbio.2018.05.023 
A. Wilderman et. al. 2018 High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development Cell Rep https://doi.org/10.1016/j.celrep.2018.03.129
A. Jorgensen et. al. 2018 Nodal Signaling Regulates Germ Cell Development and Establishment of Seminiferous Cords in the Human Fetal Testis Cell Rep https://doi.org/10.1016/j.celrep.2018.10.064
C. Boiers et. al. 2018 A Human IPS Model Implicates Embryonic B-Myeloid Fate Restriction as Developmental Susceptibility to B Acute Lymphoblastic Leukemia-Associated ETV6-RUNX1 Dev Cell https://doi.org/10.1016/j.devcel.2017.12.005
K. R. Long et. al. 2018 Extracellular Matrix Components HAPLN1, Lumican, and Collagen I Cause Hyaluronic Acid-Dependent Folding of the Developing Human Neocortex Neuron https://doi.org/10.1016/j.neuron.2018.07.013
G. J. Clowry et. al. 2018 Charting the protomap of the human telencephalon Semin Cell Dev Biol https://doi.org/10.1016/j.semcdb.2017.08.033
M. Z. Ozair et. al. 2018 hPSC Modeling Reveals that Fate Selection of Cortical Deep Projection Neurons Occurs in the Subplate Cell Stem Cell https://doi.org/10.1016/j.stem.2018.05.024
B. Dorgau et. al. 2018 Laminin gamma3 plays an important role in retinal lamination, photoreceptor organisation and ganglion cell differentiation Cell Death Dis https://doi.org/10.1038/s41419-018-0648-0
M. T. Dell’Anno et. al. 2018 Human neuroepithelial stem cell regional specificity enables spinal cord repair through a relay circuit Nature Communications https://doi.org/10.1038/s41467-018-05844-8
V. I. Floros et. al. 2018 Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos Nat Cell Biol https://doi.org/10.1038/s41556-017-0017-8
R. Vento-Tormo et. al. 2018 Single-cell reconstruction of the early maternal-fetal interface in humans Nature https://doi.org/10.1038/s41586-018-0698-6
C. G. F. de Kovel et. al. 2018 Subtle left-right asymmetry of gene expression profiles in embryonic and foetal human brains Sci Rep https://doi.org/10.1038/s41598-018-29496-2
C. G. F. de Kovel et. al. 2018 Transcriptomic analysis of left-right differences in human embryonic forebrain and midbrain Sci Data https://doi.org/10.1038/sdata.2018.164
M. F. Portnoi et. al. 2018 Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies Hum Mol Genet https://doi.org/10.1093/hmg/ddy037
J. MacDonald et. al. 2018 DMRT1 repression using a novel approach to genetic manipulation induces testicular dysgenesis in human fetal gonads Hum Reprod https://doi.org/10.1093/humrep/dey289
M. D. Young et. al. 2018 Single-cell transcriptomes from human kidneys reveal the cellular identity of renal tumors Science https://doi.org/10.1126/science.aat1699
M. Li et. al. 2018 Integrative functional genomic analysis of human brain development and neuropsychiatric risks Science https://doi.org/10.1126/science.aat7615
H. E. O'Brien et. al. 2018 Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders Genome Biol https://doi.org/10.1186/s13059-018-1567-1
J. Y. W. Liu et. al. 2018 Doublecortin-expressing cell types in temporal lobe epilepsy Acta Neuropathol Commun https://doi.org/10.1186/s40478-018-0566-5
S. Behjati et. al. 2018 Mapping human development at single-cell resolution Development https://doi.org/10.1242/dev.152561
P. Hurtado-Gonzalez et. al. 2018 Effects of Exposure to Acetaminophen and Ibuprofen on Fetal Germ Cell Development in Both Sexes in Rodent and Human Using Multiple Experimental Systems Environ Health Perspect https://doi.org/10.1289/ehp2307
R. Wilson et. al. 2018 Human peptidergic nociceptive sensory neurons generated from human epidermal neural crest stem cells (hEPI-NCSC) PLoS One https://doi.org/10.1371/journal.pone.0199996
N. O. Lindstrom et. al. 2018 Conserved and Divergent Features of Human and Mouse Kidney Organogenesis J Am Soc Nephrol https://doi.org/10.1681/asn.2017080887
L. Eley et. al. 2018 A novel source of arterial valve cells linked to bicuspid aortic valve without raphe in mice Elife https://doi.org/10.7554/eLife.34110
K. Oprych et. al. 2017 Common olfactory ensheathing glial markers in the developing human olfactory system Brain Struct Funct https://doi.org/10.1007/s00429-016-1313-y
A. Alzu'bi et. al. 2017 Distinct cortical and sub-cortical neurogenic domains for GABAergic interneuron precursor transcription factors NKX2.1, OLIG2 and COUP-TFII in early fetal human telencephalon Brain Struct Funct https://doi.org/10.1007/s00429-016-1343-5 
R. Holt et. al. 2017 Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders Hum Genet https://doi.org/10.1007/s00439-016-1745-8 
C. G. de Kovel et. al. 2017 Left-Right Asymmetry of Maturation Rates in Human Embryonic Neural Development Biol Psychiatry https://doi.org/10.1016/j.biopsych.2017.01.016
J. Kerry et. al. 2017 MLL-AF4 Spreading Identifies Binding Sites that Are Distinct from Super-Enhancers and that Govern Sensitivity to DOT1L Inhibition in Leukemia Cell Rep https://doi.org/10.1016/j.celrep.2016.12.054
A. Roy et. al. 2017 High resolution IgH repertoire analysis reveals fetal liver as the likely origin of life-long, innate B lymphopoiesis in humans Clin Immunol https://doi.org/10.1016/j.clim.2017.06.005
S. da Silva and C. L. Cepko 2017 Fgf8 Expression and Degradation of Retinoic Acid Are Required for Patterning a High-Acuity Area in the Retina Dev Cell https://doi.org/10.1016/j.devcel.2017.05.024
A. Gonzalez-Cordero et. al. 2017 Recapitulation of Human Retinal Development from Human Pluripotent Stem Cells Generates Transplantable Populations of Cone Photoreceptors Stem Cell Reports https://doi.org/10.1016/j.stemcr.2017.07.022
G. Walko et. al. 2017 A genome-wide screen identifies YAP/WBP2 interplay conferring growth advantage on human epidermal stem cells Nature Communications https://doi.org/10.1038/ncomms14744
R. Holt et. al. 2017 New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders Sci Rep https://doi.org/10.1038/s41598-017-08397-w
M. Ben Maamar et. al. 2017 Ibuprofen results in alterations of human fetal testis development Sci Rep https://doi.org/10.1038/srep44184
S. M. Laidlaw et. al. 2017 Tumor Necrosis Factor Inhibits Spread of Hepatitis C Virus Among Liver Cells, Independent from Interferons Gastroenterology https://doi.org/10.1053/j.gastro.2017.04.021
I. Bagasrawala et. al. 2017 N-Methyl d-Aspartate Receptor Expression Patterns in the Human Fetal Cerebral Cortex Cereb Cortex https://doi.org/10.1093/cercor/bhw289
L. F. Harkin et. al. 2017 Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex Cereb Cortex https://doi.org/10.1093/cercor/bhw394
A. Alzu'bi et. al. 2017 The Transcription Factors COUP-TFI and COUP-TFII have Distinct Roles in Arealisation and GABAergic Interneuron Specification in the Early Human Fetal Telencephalon Cereb Cortex https://doi.org/10.1093/cercor/bhx185
G. D. Evrony et. al. 2017 Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome Genome Res https://doi.org/10.1101/gr.219899.116
J. E. Cooper et. al. 2017 In vivo transplantation of fetal human gut-derived enteric neural crest cells Neurogastroenterol Motil https://doi.org/10.1111/nmo.12900
P. L. Chavali et. al. 2017 Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication Science https://doi.org/10.1126/science.aam9243
R. Prasad et. al. 2017 Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome J Clin Invest https://doi.org/10.1172/JCI90171
F. Buonocore et. al. 2017 Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans J Clin Invest https://doi.org/10.1172/jci91913
H. Spiers et. al. 2017 5-hydroxymethylcytosine is highly dynamic across human fetal brain development BMC Genomics https://doi.org/10.1186/s12864-017-4091-x
H. Katugampola et. al. 2017 Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit The Journal of clinical endocrinology and metabolism https://doi.org/10.1210/jc.2017-00763
S. Haston et. al. 2017 MAPK pathway control of stem cell proliferation and differentiation in the embryonic pituitary provides insights into the pathogenesis of papillary craniopharyngioma Development https://doi.org/10.1242/dev.150490
G. Carreno et. al. 2017 Hypothalamic sonic hedgehog is required for cell specification and proliferation of LHX3/LHX4 pituitary embryonic precursors Development https://doi.org/10.1242/dev.153387
T. Poobalasingam et. al. 2017 Heterozygous Vangl2Looptail mice reveal novel roles for the planar cell polarity pathway in adult lung homeostasis and repair Dis Model Mech https://doi.org/10.1242/dmm.028175
I. Del Valle et. al. 2017 A genomic atlas of human adrenal and gonad development Wellcome Open Res https://doi.org/10.12688/wellcomeopenres.11253.1
D. B. Alves et. al. 2017 BPI-fold (BPIF) containing/plunc protein expression in human fetal major and minor salivary glands Braz Oral Res https://doi.org/10.1590/1807-3107BOR-2017.vol31.0006
M. Z. Nikolic et. al. 2017 Human embryonic lung epithelial tips are multipotent progenitors that can be expanded in vitro as long-term self-renewing organoids Elife https://doi.org/10.7554/eLife.26575
R. R. Duarte et. al. 2016 Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain Am J Med Genet B Neuropsychiatr Genet https://doi.org/10.1002/ajmg.b.32445 
J. Collin et. al. 2016 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 Stem Cells https://doi.org/10.1002/stem.2240 
A. K. Kheirallah et. al. 2016 Translating Lung Function Genome-Wide Association Study (GWAS) Findings: New Insights for Lung Biology Adv Genet https://doi.org/10.1016/bs.adgen.2015.12.002 
S. S. Cheong et. al. 2016 Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis Am J Hum Genet https://doi.org/10.1016/j.ajhg.2016.09.022
S. Chatterjee, et. al. 2016 Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease Cell https://doi.org/10.1016/j.cell.2016.09.005
M. Onorati et. al. 2016 Zika Virus Disrupts Phospho-TBK1 Localization and Mitosis in Human Neuroepithelial Stem Cells and Radial Glia Cell Rep https://doi.org/10.1016/j.celrep.2016.08.038
P. N. Lewis et. al. 2016 Three-dimensional arrangement of elastic fibers in the human corneal stroma Exp Eye Res https://doi.org/10.1016/j.exer.2015.12.006
J. O. Mason and D. J. Price 2016 Building brains in a dish: Prospects for growing cerebral organoids from stem cells Neuroscience https://doi.org/10.1016/j.neuroscience.2016.07.048
E. Hannon et. al. 2016 Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci Nat Neurosci https://doi.org/10.1038/nn.4182
B. Vagaska et. al. 2016 MHC-class-II are expressed in a subpopulation of human neural stem cells in vitro in an IFNγ–independent fashion and during development Scientific Reports https://doi.org/10.1038/srep24251
G. Captur et. al. 2016 The embryological basis of subclinical hypertrophic cardiomyopathy. Sci Rep https://doi.org/10.1038/srep27714
D. A. Carter et. al. 2016 Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC) Sci Rep https://doi.org/10.1038/srep33792
P. Viswanathan et. al. 2016 Mimicking the topography of the epidermal-dermal interface with elastomer substrates Integr Biol (Camb) https://doi.org/10.1039/c5ib00238a
D. Emera et. al. 2016 Origin and evolution of developmental enhancers in the mammalian neocortex Proc Natl Acad Sci U S A https://doi.org/10.1073/pnas.1603718113
R. Feederle et. al. 2016 Generation of Pax1/PAX1-Specific Monoclonal Antibodies Monoclonal Antibodies in Immunodiagnosis and Immunotherapy https://doi.org/10.1089/mab.2016.0029
D. Halim et. al. 2016 ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Hum Mol Genet https://doi.org/10.1093/hmg/ddv497
A. Bashamboo et. al. 2016 A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development Hum Mol Genet https://doi.org/10.1093/hmg/ddw390
L. F. Harkin et. al. 2016 Distinct expression patterns for type II topoisomerases IIA and IIB in the early foetal human telencephalon J Anat https://doi.org/10.1111/joa.12416
S. Miller et. al. 2016 Genes associated with polymorphic variants predicting lung function are differentially expressed during human lung development Respir Res https://doi.org/10.1186/s12931-016-0410-z
U. Laresgoiti et. al. 2016 Lung epithelial tip progenitors integrate glucocorticoid- and STAT3-mediated signals to control progeny fate Development https://doi.org/10.1242/dev.134023
S. Miller et. al. 2016 The Ser82 RAGE Variant Affects Lung Function and Serum RAGE in Smokers and sRAGE Production In Vitro PLoS One https://doi.org/10.1371/journal.pone.0164041
S. J. Lindsay et. al. 2016 HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development Front Neuroanat https://doi.org/10.3389/fnana.2016.00086
I. Bagasrawala et. al. 2016 N-Methyl D-Aspartate Receptor Antagonist Kynurenic Acid Affects Human Cortical Development Front Neurosci https://doi.org/10.3389/fnins.2016.00435
A. Ishaq et. al. 2016 Telomerase Activity is Downregulated Early During Human Brain Development Genes (Basel) https://doi.org/10.3390/genes7060027
L. Islam et. al. 2015 Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease Hum Mutat https://doi.org/10.1002/humu.22741 
C. B. Mellough et. al. 2015 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 Stem Cells https://doi.org/10.1002/stem.2023 
J. Lakowski et. al. 2015 Transplantation of Photoreceptor Precursors Isolated via a Cell Surface Biomarker Panel From Embryonic Stem Cell-Derived Self-Forming Retina Stem Cells https://doi.org/10.1002/stem.2051 
T. Nakayama et. al. 2015 Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination Am J Hum Genet https://doi.org/10.1016/j.ajhg.2015.03.003
S. E. New et. al. 2015 A matter of identity - Phenotype and differentiation potential of human somatic stem cells Stem Cell Res https://doi.org/10.1016/j.scr.2015.04.003
S. Thomas et. al. 2015 Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity Eur J Hum Genet https://doi.org/10.1038/ejhg.2014.156
A. J. Copp et. al. 2015 Spina bifida Nature Reviews Disease Primers https://doi.org/10.1038/nrdp.2015.7
H. Pearson et. al. 2015 Fetal human airway smooth muscle cell production of leukocyte chemoattractants is differentially regulated by fluticasone Pediatr Res https://doi.org/10.1038/pr.2015.168
N. Al-Jaberi et. al. 2015 The early fetal development of human neocortical GABAergic interneurons Cereb Cortex https://doi.org/10.1093/cercor/bht254
C. L. Relton et. al. 2015 Data Resource Profile: Accessible Resource for Integrated Epigenomic Studies (ARIES) Int J Epidemiol https://doi.org/10.1093/ije/dyv072
H. Spiers et. al. 2015 Methylomic trajectories across human fetal brain development Genome Res https://doi.org/10.1101/gr.180273.114
L. C. Gregory et. al. 2015 The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism Clin Endocrinol (Oxf) https://doi.org/10.1111/cen.12637
G. J. Clowry 2015 An enhanced role and expanded developmental origins for gamma-aminobutyric acidergic interneurons in the human cerebral cortex J Anat https://doi.org/10.1111/joa.12198
S. K. Reilly et. al. 2015 Evolutionary genomics. Evolutionary changes in promoter and enhancer activity during human corticogenesis Science https://doi.org/10.1126/science.1260943
R. B. Hufnagel et. al. 2015 Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes J Med Genet https://doi.org/10.1136/jmedgenet-2014-102856
J. Charlton et. al. 2015 Comparative methylome analysis identifies new tumour subtypes and biomarkers for transformation of nephrogenic rests into Wilms tumour Genome Medicine https://doi.org/10.1186/s13073-015-0136-4
K. Probert et. al. 2015 Developmental genetics of the COPD lung COPD Research and Practice https://doi.org/10.1186/s40749-015-0014-x
M. Y. Ahmed et. al. 2015 Loss of PCLO function underlies pontocerebellar hypoplasia type III Neurology https://doi.org/10.1212/WNL.0000000000001523
D. Gerrelli et. al. 2015 Enabling research with human embryonic and fetal tissue resources Development https://doi.org/10.1242/dev.122820
C. A. Risebro et. al. 2015 Characterisation of the human embryonic and foetal epicardium during heart development Development https://doi.org/10.1242/dev.127621
A. W. Mould et. al. 2015 Blimp1/Prdm1 Functions in Opposition to Irf1 to Maintain Neonatal Tolerance during Postnatal Intestinal Maturation PLoS Genet https://doi.org/10.1371/journal.pgen.1005375
M. N. Manuel et. al. 2015 Regulation of cerebral cortical neurogenesis by the Pax6 transcription factor Front Cell Neurosci https://doi.org/10.3389/fncel.2015.00070
K. P. U, V. Subramanian et. al. 2014 Modulation of calcium-induced cell death in human neural stem cells by the novel peptidylarginine deiminase-AIF pathway Biochim Biophys Acta https://doi.org/10.1016/j.bbamcr.2014.02.018
N. V. Radonjic et. al. 2014 Diversity of cortical interneurons in primates: the role of the dorsal proliferative niche Cell Rep https://doi.org/10.1016/j.celrep.2014.11.026
S. F. de Sousa et. al. 2014 PKA regulatory subunit expression in tooth development Gene Expr Patterns https://doi.org/10.1016/j.gep.2014.04.002
K. A. Rygiel et. al. 2014 Respiratory chain deficiency in aged spinal motor neurons Neurobiol Aging https://doi.org/10.1016/j.neurobiolaging.2014.02.027
A. Necsulea et. al. 2014 The evolution of lncRNA repertoires and expression patterns in tetrapods Nature https://doi.org/10.1038/nature12943
D. Kelberman et. al. 2014 Mutation of SALL2 causes recessive ocular coloboma in humans and mice Hum Mol Genet https://doi.org/10.1093/hmg/ddt643
M. G. Thomas et. al. 2014 Abnormal retinal development associated with FRMD7 mutations Hum Mol Genet https://doi.org/10.1093/hmg/ddu122
B. I. Bae et. al. 2014 Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning Science https://doi.org/10.1126/science.1244392
J. Charlton et. al. 2014 Methylome analysis identifies a Wilms tumor epigenetic biomarker detectable in blood Genome Biology https://doi.org/10.1186/s13059-014-0434-y
R. Pidsley et. al. 2014 Methylomic profiling of human brain tissue supports a neurodevelopmental origin for schizophrenia. Genome Biology https://doi.org/10.1186/s13059-014-0483-2
D. M. Feliciano et. al. 2014 Embryonic cerebrospinal fluid nanovesicles carry evolutionarily conserved molecules and promote neural stem cell amplification PLoS One https://doi.org/10.1371/journal.pone.0088810
S. D. Bamforth et. al. 2013 Clarification of the identity of the mammalian fifth pharyngeal arch artery Clin Anat https://doi.org/10.1002/ca.22101 
K. Y. Leung et. al. 2013 Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain Mol Cell Biochem https://doi.org/10.1007/s11010-013-1613-y 
J. Cotney et. al. 2013 The evolution of lineage-specific regulatory activities in the human embryonic limb Cell https://doi.org/10.1016/j.cell.2013.05.056
S. Cappello et. al. 2013 Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development Nat Genet https://doi.org/10.1038/ng.2765
E. A. Webb et. al. 2013 ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies Brain https://doi.org/10.1093/brain/awt218
Y. Song and J. J. Pillow 2013 Developmental regulation of molecular signalling in fetal and neonatal diaphragm protein metabolism Exp Biol Med (Maywood) https://doi.org/10.1177/1535370213494562
E. Hodge et. al. 2013 HTR4 gene structure and altered expression in the developing lung Respir Res https://doi.org/10.1186/1465-9921-14-77
I. Ehrmann et. al. 2013 The tissue-specific RNA binding protein T-STAR controls regional splicing patterns of neurexin pre-mRNAs in the brain PLoS Genet https://doi.org/10.1371/journal.pgen.1003474
L. Stappert et. al. 2013 MicroRNA-based promotion of human neuronal differentiation and subtype specification PloS One https://doi.org/10.1371/journal.pone.0059011
M. Obeidat et. al. 2013 GSTCD and INTS12 regulation and expression in the human lung PLoS One https://doi.org/10.1371/journal.pone.0074630
K. J. Denny et. al. 2013 C5a receptor signaling prevents folate deficiency-induced neural tube defects in mice J Immunol https://doi.org/10.4049/jimmunol.1203072
C. R. Morris et. al. 2012 Origin of trisomy: no evidence to support the ovarian mosaicism theory Prenat Diagn https://doi.org/10.1002/pd.3885 
A. Leone et. al. 2012 In-vitro regulation of odontogenic gene expression in human embryonic tooth cells and SHED cells Cell Tissue Res https://doi.org/10.1007/s00441-012-1379-7 
H. Ali et. al. 2012 In vitro modelling of cortical neurogenesis by sequential induction of human umbilical cord blood stem cells Stem Cell Rev https://doi.org/10.1007/s12015-011-9287-x 
R. B. Gill et. al. 2012 Mammalian Sulf1 RNA alternative splicing and its significance to tumour growth regulation Tumour Biol https://doi.org/10.1007/s13277-012-0423-2 
J. Desai et. al. 2012 Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) Gene Expr Patterns https://doi.org/10.1016/j.gep.2012.03.003
M. Alfakir et. al. 2012 The temporal and spatial expression patterns of ABCG2 in the developing human heart Int J Cardiol https://doi.org/10.1016/j.ijcard.2010.10.025
R. El-Khairi et. al. 2012 Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency Mol Cell Endocrinol https://doi.org/10.1016/j.mce.2011.12.016
L. S. Nguyen et. al. 2012 Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability Mol Psychiatry https://doi.org/10.1038/mp.2011.163
V. A. Arboleda et. al. 2012 Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome Nat Genet https://doi.org/10.1038/ng.2275
C. Hammer et. al. 2012 Replication of functional serotonin receptor type 3A and B variants in bipolar affective disorder: a European multicenter study Transl Psychiatry https://doi.org/10.1038/tp.2012.30
R. H. Anderson et. al. 2012 Normal and abnormal development of the intrapericardial arterial trunks in humans and mice Cardiovasc Res https://doi.org/10.1093/cvr/cvs147
A. Brockschmidt et. al. 2012 CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT) Nephrol Dial Transplant https://doi.org/10.1093/ndt/gfr649
W. R. Hartman et. al. 2012 Oxygen dose responsiveness of human fetal airway smooth muscle cells Am J Physiol Lung Cell Mol Physiol https://doi.org/10.1152/ajplung.00037.2012
P. G. Hysi et. al. 2012 Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort Invest Ophthalmol Vis Sci https://doi.org/10.1167/iovs.10-5640
M. J. Hill and N. J. Bray 2012 Evidence that schizophrenia risk variation in the ZNF804A gene exerts its effects during fetal brain development Am J Psychiatry https://doi.org/10.1176/appi.ajp.2012.11121845
I. Olivera-Martinez et. al. 2012 Loss of FGF-dependent mesoderm identity and rise of endogenous retinoid signalling determine cessation of body axis elongation PLoS Biol https://doi.org/10.1371/journal.pbio.1001415
Y. Z. Cheng et. al. 2012 Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome PloS One https://doi.org/10.1371/journal.pone.0044975
D. Kelberman et. al. 2011 Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity Hum Mutat https://doi.org/10.1002/humu.21550 
J. Lakowski et. al. 2011 Effective transplantation of photoreceptor precursor cells selected via cell surface antigen expression Stem Cells https://doi.org/10.1002/stem.694 
M. Bakircioglu et. al. 2011 The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis Am J Hum Genet https://doi.org/10.1016/j.ajhg.2011.03.019 
R. B. Gill et. al. 2011 Sulf2 gene is alternatively spliced in mammalian developing and tumour tissues with functional implications Biochem Biophys Res Commun https://doi.org/10.1016/j.bbrc.2011.09.088
D. Kelberman et. al. 2011 CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited Ophthalmology https://doi.org/10.1016/j.ophtha.2011.01.044
H. J. Kang et. al. 2011 Spatio-temporal transcriptome of the human brain Nature https://doi.org/10.1038/nature10523
P. L. Martinez-Morales et. al. 2011 FGF and retinoic acid activity gradients control the timing of neural crest cell emigration in the trunk J Cell Biol https://doi.org/10.1083/jcb.201011077
M. G. Thomas et. al. 2011 The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus Brain https://doi.org/10.1093/brain/awq373
B. K. Ip et. al. 2011 The corticofugal neuron-associated genes ROBO1, SRGAP1, and CTIP2 exhibit an anterior to posterior gradient of expression in early fetal human neocortex development Cereb Cortex https://doi.org/10.1093/cercor/bhq219
B. Ferraz-de-Souza et. al. 2011 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 FASEB J https://doi.org/10.1096/fj.10-170522
H. H. Al-Balool et. al. 2011 Post-transcriptional exon shuffling events in humans can be evolutionarily conserved and abundant Genome Res https://doi.org/10.1101/gr.116442.110
E. Stergiakouli et. al. 2011 Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder Genes Brain Behav https://doi.org/10.1111/j.1601-183X.2010.00672.x
S. Y. Chan et. al. 2011 The expression of thyroid hormone transporters in the human fetal cerebral cortex during early development and in N-Tera-2 neurodifferentiation J Physiol https://doi.org/10.1113/jphysiol.2011.207290
A. T. Pagnamenta et. al. 2011 Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability J Med Genet https://doi.org/10.1136/jmg.2010.079426
A. Sizarov et. al. 2011 Molecular analysis of patterning of conduction tissues in the developing human heart Circ Arrhythm Electrophysiol https://doi.org/10.1161/CIRCEP.111.963421
B. Ferraz-de-Souza et. al. 2011 Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal J Clin Endocrinol Metab https://doi.org/10.1210/jc.2010-2021
M. J. McCabe et. al. 2011 Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction J Clin Endocrinol Metab https://doi.org/10.1210/jc.2011-0454
C. S. Rutland et. al. 2011 Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart Development https://doi.org/10.1242/dev.059063
S. Tomaselli et. al. 2011 Human RSPO1/R-spondin1 is expressed during early ovary development and augments beta-catenin signaling PloS One https://doi.org/10.1371/journal.pone.0016366
C. Durand et. al. 2011 Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression PloS One https://doi.org/10.1371/journal.pone.0018115
A. W. Wyatt et. al. 2010 Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies Hum Mutat https://doi.org/10.1002/humu.21280 
B. Polster et. al. 2010 Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy Brain Res Bull https://doi.org/10.1016/j.brainresbull.2010.08.011
M. A. Tischfield et. al. 2010 Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance Cell https://doi.org/10.1016/j.cell.2009.12.011
X. Wang et. al. 2010 From spatial-data to 3D models of the developing human brain Methods https://doi.org/10.1016/j.ymeth.2009.09.006
J. Shen et. al. 2010 Mutations in PNKP cause microcephaly, seizures and defects in DNA repair Nat Genet https://doi.org/10.1038/ng.526
A. K. Nicholas et. al. 2010 WDR62 is associated with the spindle pole and is mutated in human microcephaly Nat Genet https://doi.org/10.1038/ng.682
J. Betts-Henderson et. al. 2010 The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development Hum Mol Genet https://doi.org/10.1093/hmg/ddp500
D. Jenkins et. al. 2010 Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction Nephrol Dial Transplant https://doi.org/10.1093/ndt/gfp453
L. A. McDonald et. al. 2010 Comparison of Iroquois gene expression in limbs/fins of vertebrate embryos J Anat https://doi.org/10.1111/j.1469-7580.2010.01233.x
B. K. Ip et. al. 2010 Investigating gradients of gene expression involved in early human cortical development J Anat https://doi.org/10.1111/j.1469-7580.2010.01259.x
W. Z. Wang et. al. 2010 Subplate in the developing cortex of mouse and human J Anat https://doi.org/10.1111/j.1469-7580.2010.01274.x
G. Clowry et. al. 2010 Renewed focus on the developing human neocortex J Anat https://doi.org/10.1111/j.1469-7580.2010.01281.x
J. Kerwin et. al. 2010 The HUDSEN Atlas: a three-dimensional (3D) spatial framework for studying gene expression in the developing human brain J Anat https://doi.org/10.1111/j.1469-7580.2010.01290.x
H. Vega et. al. 2010 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 J Med Genet https://doi.org/10.1136/jmg.2009.068395
R. D. Palmer et. al. 2010 Malignant germ cell tumors display common microRNA profiles resulting in global changes in expression of messenger RNA targets Cancer Res https://doi.org/10.1158/0008-5472.CAN-09-3301
S. U. Iseri et. al. 2009 Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies Hum Mutat https://doi.org/10.1002/humu.21079 
G. Gestri et. al. 2009 Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators Hum Genet https://doi.org/10.1007/s00439-009-0730-x 
S. R. Twigg et. al. 2009 Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene Am J Hum Genet https://doi.org/10.1016/j.ajhg.2009.04.009 
G. H. Mochida et. al. 2009 A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly Am J Hum Genet https://doi.org/10.1016/j.ajhg.2009.10.027 
M. Metzger et. al. 2009 Enteric nervous system stem cells derived from human gut mucosa for the treatment of aganglionic gut disorders Gastroenterology https://doi.org/10.1053/j.gastro.2009.02.048
R. Schulz et. al. 2009 Transcript- and tissue-specific imprinting of a tumour suppressor gene Hum Mol Genet https://doi.org/10.1093/hmg/ddn322
D. Kelberman et. al. 2009 Genetic regulation of pituitary gland development in human and mouse Endocr Rev https://doi.org/10.1210/er.2009-0008
B. Ferraz-de-Souza et. al. 2009 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 J Clin Endocrinol Metab https://doi.org/10.1210/jc.2008-1064
A. Duggan et. al. 2008 Transient expression of the conserved zinc finger gene INSM1 in progenitors and nascent neurons throughout embryonic and adult neurogenesis J Comp Neurol https://doi.org/10.1002/cne.21629 
M. Southwood et. al. 2008 Regulation of bone morphogenetic protein signalling in human pulmonary vascular development J Pathol https://doi.org/10.1002/path.2261 
P. Bakrania et. al. 2008 Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways Am J Hum Genet https://doi.org/10.1016/j.ajhg.2007.09.023 
V. Cantagrel et. al. 2008 Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome Am J Hum Genet https://doi.org/10.1016/j.ajhg.2008.06.023 
M. H. Ledran et. al. 2008 Efficient hematopoietic differentiation of human embryonic stem cells on stromal cells derived from hematopoietic niches Cell Stem Cell https://doi.org/10.1016/j.stem.2008.06.001
R. Pocock et. al. 2008 Neuronal function of Tbx20 conserved from nematodes to vertebrates Dev Biol https://doi.org/10.1016/j.ydbio.2008.02.015
N. Bayatti et. al. 2008 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 Cereb Cortex https://doi.org/10.1093/cercor/bhm184
A. Rajab et. al. 2008 Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss Hum Mol Genet https://doi.org/10.1093/hmg/ddn114
N. Bayatti et. al. 2008 Progressive loss of PAX6, TBR2, NEUROD and TBR1 mRNA gradients correlates with translocation of EMX2 to the cortical plate during human cortical development Eur J Neurosci https://doi.org/10.1111/j.1460-9568.2008.06475.x
N. Miyake et. al. 2008 Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome Science https://doi.org/10.1126/science.1156121
T. R. Menheniott et. al. 2008 Genomic imprinting of Dopa decarboxylase in heart and reciprocal allelic expression with neighboring Grb10 Mol Cell Biol https://doi.org/10.1128/mcb.00862-07
A. J. Burns et. al. 2008 Development of the neural crest-derived intrinsic innervation of the human lung Am J Respir Cell Mol Biol https://doi.org/10.1165/rcmb.2007-0246OC
S. Greenwood et. al. 2008 Fgf2 is expressed in human and murine embryonic choroid plexus and affects choroid plexus epithelial cell behaviour Cerebrospinal Fluid Res https://doi.org/10.1186/1743-8454-5-20
D. Kelberman et. al. 2008 SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development J Clin Endocrinol Metab https://doi.org/10.1210/jc.2007-2337
E. Sajedi et. al. 2008 Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism Dis Model Mech https://doi.org/10.1242/dmm.000711
Y. Cui et. al. 2008 OPCML is a broad tumor suppressor for multiple carcinomas and lymphomas with frequently epigenetic inactivation PloS One https://doi.org/10.1371/journal.pone.0002990
V. Cantagrel et. al. 2007 Truncation of NHEJ1 in a patient with polymicrogyria Hum Mutat https://doi.org/10.1002/humu.20450 
C. Selden et. al. 2007 Growth factors improve gene expression after lentiviral transduction in human adult and fetal hepatocytes J Gene Med https://doi.org/10.1002/jgm.1000 
C. C. Richardson et. al. 2007 Low levels of glucose transporters and K+ATP channels in human pancreatic beta cells early in development Diabetologia https://doi.org/10.1007/s00125-007-0644-x 
M. D. Zappaterra et. al. 2007 A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid J Proteome Res https://doi.org/10.1021/pr070247w
C. Francks et. al. 2007 LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia Mol Psychiatry https://doi.org/10.1038/sj.mp.4002053
H. R. Dawe et. al. 2007 The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation Hum Mol Genet https://doi.org/10.1093/hmg/ddl459
D. Jenkins et. al. 2007 Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development J Anat https://doi.org/10.1111/j.1469-7580.2007.00808.x
S. M. Sisodiya et. al. 2007 Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation J Med Genet https://doi.org/10.1136/jmg.2006.047407
K. L. Price et. al. 2007 Microarray interrogation of human metanephric mesenchymal cells highlights potentially important molecules in vivo Physiol Genomics https://doi.org/10.1152/physiolgenomics.00147.2006
S. M. Cadman et. al. 2007 Molecular pathogenesis of Kallmann's syndrome Horm Res https://doi.org/10.1159/000098156
J. Chan et. al. 2007 Glucocorticoid-induced apoptosis in human decidua: a novel role for 11beta-hydroxysteroid dehydrogenase in late gestation J Endocrinol https://doi.org/10.1677/JOE-07-0289
P. Tarpey et. al. 2006 Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus Nat Genet https://doi.org/10.1038/ng1893
S. Paracchini et. al. 2006 The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration Hum Mol Genet https://doi.org/10.1093/hmg/ddl089
D. Jenkins et. al. 2006 Mutation analyses of Uroplakin II in children with renal tract malformations Nephrol Dial Transplant https://doi.org/10.1093/ndt/gfl465
P. Ferretti et. al. 2006 The developing human spinal cord contains distinct populations of neural precursors Neurodegener Dis https://doi.org/10.1159/000092091
A. S. Wallace and A. J. Burns 2005 Development of the enteric nervous system, smooth muscle and interstitial cells of Cajal in the human gastrointestinal tract Cell Tissue Res https://doi.org/10.1007/s00441-004-1023-2 
S. Sarma et. al. 2005 3D modelling, gene expression mapping and post-mapping image analysis in the developing human brain Brain Res Bull https://doi.org/10.1016/j.brainresbull.2005.05.022
S. Lindsay et. al. 2005 Anatomical and gene expression mapping of the ventral pallium in a three-dimensional model of developing human brain Neuroscience https://doi.org/10.1016/j.neuroscience.2005.06.093
S. Lindsay and A. J. Copp 2005 MRC-Wellcome Trust Human Developmental Biology Resource: enabling studies of human developmental gene expression Trends Genet https://doi.org/10.1016/j.tig.2005.08.011
S. Aijaz et. al. 2005 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 Genomics https://doi.org/10.1016/j.ygeno.2005.03.002
N. K. Ragge et. al. 2005 Heterozygous mutations of OTX2 cause severe ocular malformations Am J Hum Genet https://doi.org/10.1086/430721
M. Mackay and P. Ferretti 2005 FGFR1 down-regulation in differentiating human brain and spinal cord neurospheres Neuroreport https://doi.org/10.1097/00001756-200501190-00009
G. J. Clowry et. al. 2005 An immunohistochemical study of the development of sensorimotor components of the early fetal human spinal cord J Anat https://doi.org/10.1111/j.1469-7580.2005.00468.x
G. Feng et. al. 2005 JAtlasView: a Java atlas-viewer for browsing biomedical 3D images and atlases BMC Bioinformatics https://doi.org/10.1186/1471-2105-6-47
A. Swetloff and P. Ferretti 2005 Changes in E2F5 intracellular localization in mouse and human choroid plexus epithelium with development Int J Dev Biol https://doi.org/10.1387/ijdb.051996as
D. Jenkins et. al. 2005 De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure J Am Soc Nephrol https://doi.org/10.1681/ASN.2004090776
T. Hearn et. al. 2005 Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes Diabetes https://doi.org/10.2337/diabetes.54.5.1581
A. J. Copp and E. M. C. Fisher 2004 Abstracts of papers presented at the fourteenth Genetics Society's Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 3 and 4 December 2003 Genetical Research https://doi.org/10.1017/S0016672304007104 
P. O'Neill et. al. 2004 Nogo and Nogo-66 receptor in human and chick: implications for development and regeneration Dev Dyn https://doi.org/10.1002/dvdy.20116 
E. T. Tonkin et. al. 2004 A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3 Hum Genet https://doi.org/10.1007/s00439-004-1134-6 
C. G. Woods 2004 Human microcephaly Curr Opin Neurobiol https://doi.org/10.1016/j.conb.2004.01.003
D. Gonzalez-Martinez et. al. 2004 Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome Front Neuroendocrinol https://doi.org/10.1016/j.yfrne.2004.06.001
E. T. Tonkin et. al. 2004 NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome Nat Genet https://doi.org/10.1038/ng1363
L. Lefievre et. al. 2004 Four zona pellucida glycoproteins are expressed in the human Hum Reprod https://doi.org/10.1093/humrep/deh301
L. Romio et. al. 2004 OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis J Am Soc Nephrol https://doi.org/10.1097/01.asn.0000140220.46477.5c
S. Jiang et. al. 2004 Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity Kidney Int https://doi.org/10.1111/j.1523-1755.2004.00703.x
J. Kerwin et. al. 2004 3 dimensional modelling of early human brain development using optical projection tomography BMC Neurosci https://doi.org/10.1186/1471-2202-5-27
S. Walder and P. Ferretti 2004 Distinct neural precursors in the developing human spinal cord Int J Dev Biol https://doi.org/10.1387/ijdb.041853sw
D. Gonzalez-Martinez et. al. 2004 Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism J Neurosci https://doi.org/10.1523/JNEUROSCI.3400-04.2004
K. Piper et. al. 2004 Beta cell differentiation during early human pancreas development J Endocrinol https://doi.org/10.1677/joe.0.1810011
P. J. R. Barton et. al. 2004 The slow skeletal muscle troponin T gene is expressed in developing and diseased human heart Mol Cell Biochem https://doi.org/10.1023/B:Mcbi.0000041851.53074.72
S. Walder et. al. 2003 Up-regulation of neural stem cell markers suggests the occurrence of dedifferentiation in regenerating spinal cord Dev Genes Evol https://doi.org/10.1007/s00427-003-0364-2 
C. S. Lai et. al. 2003 FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder Brain https://doi.org/10.1093/brain/awg247
J. Liang et. al. 2003 Immunohistochemical characterization of the epidermoid formation in the middle ear Laryngoscope https://doi.org/10.1097/00005537-200306000-00017
L. Romio et. al. 2003 OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells J Am Soc Nephrol https://doi.org/10.1097/01.asn.0000054497.48394.d2
H. M. Phillips et. al. 2002 Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis Genomics https://doi.org/10.1006/geno.2002.6742 
E. Tonkin et. al. 2002 Identification and characterisation of novel mammalian homologues of Drosophila polyhomeoticpermits new insights into relationships between members of the polyhomeotic family Hum Genet https://doi.org/10.1007/s00439-002-0814-3 
A. S. Woolf and P. J. Winyard 2002 Molecular mechanisms of human embryogenesis: developmental pathogenesis of renal tract malformations Pediatr Dev Pathol https://doi.org/10.1007/s10024-001-0141-z 
D. Zehnder et. al. 2002 The ontogeny of 25-hydroxyvitamin D(3) 1alpha-hydroxylase expression in human placenta and decidua Am J Pathol https://doi.org/10.1016/s0002-9440(10)64162-4
K. Piper et. al. 2002 Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia Mech Dev https://doi.org/10.1016/s0925-4773(02)00145-4
M. Goto et. al. 2002 Steroidogenic enzyme expression within the adrenal cortex during early human gestation Endocr Res https://doi.org/10.1081/erc-120016979
C. Braybrook et. al. 2002 Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients Hum Mol Genet https://doi.org/10.1093/hmg/11.22.2793
S. M. Hall et. al. 2002 Origin, differentiation, and maturation of human pulmonary veins Am J Respir Cell Mol Biol https://doi.org/10.1165/ajrcmb.26.3.4698
M. Monk and A. Salpekar 2001 Expression of imprinted genes in human preimplantation development Mol Cell Endocrinol https://doi.org/10.1016/s0303-7207(01)00575-5
A. E. Lehesjoki et. al. 2001 Expression of MUL, a gene encoding a novel RBCC family ring-finger protein, in human and mouse embryogenesis Mech Dev https://doi.org/10.1016/s0925-4773(01)00491-9
M. Monk and C. Holding 2001 Human embryonic genes re-expressed in cancer cells Oncogene https://doi.org/10.1038/sj.onc.1205088
E. A. Jones et. al. 2001 Differences between human and mouse alpha-fetoprotein expression during early development J Anat https://doi.org/10.1046/j.1469-7580.2001.19850555.x
M. Monk et. al. 2001 Isolation of novel developmental genes from human germ cell, oocyte and embryo cDNA by differential display Reprod Fertil Dev https://doi.org/10.1071/rd00073
L. C. Bibb et. al. 2001 Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development Hum Mol Genet https://doi.org/10.1093/hmg/10.15.1571
T. Goto et. al. 2001 Expression of a testis-specific member of the olfactory receptor gene family in human primordial germ cells Mol Hum Reprod https://doi.org/10.1093/molehr/7.6.553
A. Salpekar et. al. 2001 The use of amplified cDNA to investigate the expression of seven imprinted genes in human oocytes and preimplantation embryos Mol Hum Reprod https://doi.org/10.1093/molehr/7.9.839
N. A. Hanley et. al. 2001 Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland: potential interactions in gene regulation Mol Endocrinol https://doi.org/10.1210/mend.15.1.0585
M. Kolatsi-Joannou et. al. 2001 Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development J Am Soc Nephrol https://doi.org/10.1681/ASN.V12102175
N. A. Hanley et. al. 2000 SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development Mech Dev https://doi.org/10.1016/s0925-4773(99)00307-x
D. M. Hagan et. al. 2000 Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene Am J Hum Genet https://doi.org/10.1086/302899
F. Fougerousse et. al. 2000 Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes Hum Mol Genet https://doi.org/10.1093/hmg/9.2.165
M. Clement-Jones et. al. 2000 The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome Hum Mol Genet https://doi.org/10.1093/hmg/9.5.695
C. Holding et. al. 2000 Detection of human novel developmental genes in cDNA derived from replicate individual preimplantation embryos Mol Hum Reprod https://doi.org/10.1093/molehr/6.9.801
C. M. Cale et. al. 2000 Inflammatory mediators in human renal dysplasia Nephrol Dial Transplant https://doi.org/10.1093/ndt/15.2.173
E. A. Jones et. al. 2000 JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype J Med Genet https://doi.org/10.1136/jmg.37.9.658
S. M. Hall et. al. 2000 Prenatal origins of human intrapulmonary arteries: formation and smooth muscle maturation Am J Respir Cell Mol Biol https://doi.org/10.1165/ajrcmb.23.2.3975
C. J. Marshall et. al. 1999 Detailed characterization of the human aorta-gonad-mesonephros region reveals morphological polarity resembling a hematopoietic stromal layer Dev Dyn https://doi.org/10.1002/(SICI)1097-0177(199906)215:2<139::AID-DVDY6>3.0.CO;2-%23
J. Adjaye et. al. 1999 Developmental expression of specific genes detected in high-quality cDNA libraries from single human preimplantation embryos Gene https://doi.org/10.1016/s0378-1119(99)00329-7
N. A. Hanley et. al. 1999 Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination Mech Dev https://doi.org/10.1016/s0925-4773(99)00123-9
T. Goto et. al. 1999 Identification of genes expressed in human primordial germ cells at the time of entry of the female germ line into meiosis Mol Hum Reprod https://doi.org/10.1093/molehr/5.9.851
C. T. Chan and P. Thorogood 1999 Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development Pediatr Res https://doi.org/10.1203/00006450-199901000-00008
K. M. David et. al. 1998 Cartilaginous development of the human craniovertebral junction as visualised by a new three-dimensional computer reconstruction technique J Anat https://doi.org/10.1046/j.1469-7580.1998.19220269.x
I. Vieille-Grosjean et. al. 1997 Branchial HOX gene expression and human craniofacial development Dev Biol https://doi.org/10.1006/dbio.1996.8450 
M. Kolatsi-Joannou et. al. 1997 Expression of hepatocyte growth factor/scatter factor and its receptor, MET, suggests roles in human embryonic organogenesis Pediatr Res https://doi.org/10.1203/00006450-199705000-00010
J. M. Frangiskakis et. al. 1996 LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition Cell https://doi.org/10.1016/S0092-8674(00)80077-X
V. M. Duke et. al. 1995 KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development Mol Cell Endocrinol https://doi.org/10.1016/0303-7207(95)03518-c 
 

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