|
| 36216457 | Clinical, neuroimaging and molecular characteristics of <i>PPP2R5D</i>-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis. | J Med Genet | 2023 |
| 36982425 | Transcriptomic Signatures of Single-Suture Craniosynostosis Phenotypes. | Int J Mol Sci | 2023 |
| 37194416 | Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. | Ann Clin Transl Neurol | 2023 |
| 34193976 | Activated interleukin-7 receptor signaling drives B-cell acute lymphoblastic leukemia in mice. | Leukemia | 2022 |
| 35736367 | The arginine methyltransferase Carm1 is necessary for heart development. | G3 (Bethesda) | 2022 |
| 35769015 | Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. | Brain | 2022 |
| 35435921 | Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal cis-Regulatory Elements. | Transl Vis Sci Technol | 2022 |
| 35355055 | Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care. | Brain | 2022 |
| 35948756 | Anti-tumor activity of a T-helper 1 multiantigen vaccine in a murine model of prostate cancer. | Sci Rep | 2022 |
| 35303433 | Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids. | Dev Cell | 2022 |
| 34140698 | Spatial and cell type transcriptional landscape of human cerebellar development. | Nat Neurosci | 2021 |
| 34788628 | Gene regulatory networks controlling temporal patterning, neurogenesis, and cell-fate specification in mammalian retina. | Cell Rep | 2021 |
| 34610329 | Adaptations in Hippo-Yap signaling and myofibroblast fate underlie scar-free ear appendage wound healing in spiny mice. | Dev Cell | 2021 |
| 34849462 | Spiny mice activate unique transcriptional programs after severe kidney injury regenerating organ function without fibrosis. | iScience | 2021 |
| 34740959 | The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis. | J Immunol | 2021 |
| 34347142 | Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation. | Acta Neuropathol | 2021 |
| 34345025 | Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. | Genet Med | 2021 |
| 34344887 | Haploinsufficiency of SF3B2 causes craniofacial microsomia. | Nat Commun | 2021 |
| 32265282 | Mapping the <i>cis</i>-regulatory architecture of the human retina reveals noncoding genetic variation in disease. | Proc Natl Acad Sci U S A | 2020 |
| 32871052 | MYT1 role in the microtia-craniofacial microsomia spectrum. | Mol Genet Genomic Med | 2020 |
| 32561870 | Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain. | Sci Data | 2020 |
| 31005300 | Transcriptome profiling reveals activation of inflammation and apoptosis in the neonatal striatum after deep hypothermic circulatory arrest. | J Thorac Cardiovasc Surg | 2019 |
| 31474318 | Redefining the Etiologic Landscape of Cerebellar Malformations. | Am J Hum Genet | 2019 |
| 31624095 | Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. | Science | 2019 |
| 31536475 | Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations. | JCI Insight | 2019 |
| 31101634 | The Effect of Mouse Strain, Sex, and Carcinogen Dose on Toxicity and the Development of Lung Dysplasia and Squamous Cell Carcinomas in Mice. | Cancer Prev Res (Phila) | 2019 |
| 29317443 | A mutation in <i>Ccdc39</i> causes neonatal hydrocephalus with abnormal motile cilia development in mice. | Development | 2018 |
| 30537273 | Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290-300. | Am J Med Genet A | 2018 |
| 30471716 | MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. | Am J Hum Genet | 2018 |
| 29671837 | Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. | Genet Med | 2018 |
| 29208648 | Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice. | G3 (Bethesda) | 2018 |
| 29168297 | Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. | Am J Med Genet A | 2018 |
| 29341397 | Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus. | Am J Med Genet A | 2018 |
| 28969385 | Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. | Brain | 2017 |
| 26942290 | Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. | Am J Hum Genet | 2016 |
| 27631024 | <i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. | JCI Insight | 2016 |
| 27240540 | Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. | Am J Med Genet A | 2016 |
| 27264673 | A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. | Am J Med Genet A | 2016 |
| 27261005 | Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice. | G3 (Bethesda) | 2016 |
| 27441645 | Improvement of ENU Mutagenesis Efficiency Using Serial Injection and Mismatch Repair Deficiency Mice. | PLoS One | 2016 |
| 27159400 | Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. | JAMA Neurol | 2016 |
| 25753363 | Osteoblast differentiation profiles define sex specific gene expression patterns in craniosynostosis. | Bone | 2015 |
| 26552429 | Variant mapping and mutation discovery in inbred mice using next-generation sequencing. | BMC Genomics | 2015 |
| 26520804 | Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. | Lancet Neurol | 2015 |
| 26715529 | Erratum: Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature. | J Hematol Oncol | 2015 |
| 24754962 | Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature. | J Hematol Oncol | 2014 |
| 23553203 | Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families. | JAMA Psychiatry | 2013 |
| 24013638 | A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. | Nat Genet | 2013 |
| 21811784 | Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. | Rheumatol Int | 2012 |
| 21892162 | Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. | Nat Genet | 2011 |