A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. FEBS Lett 594, 717-727 (2020).
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain 143, 55-68 (2020).
Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer. Genes (Basel) 11, (2020).
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. J Inherit Metab Dis (2020). doi:10.1002/jimd.12249
Mutations in KRT10 in epidermolytic acanthoma. J Cutan Pathol 47, 524-529 (2020).
MAGEL2-related disorders: A study and case series. Clin Genet 96, 493-505 (2019).
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell 176, 1310-1324.e10 (2019).
Mendelian Gene Discovery: Fast and Furious with No End in Sight. Am J Hum Genet 105, 448-455 (2019).
MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data. Bioinformatics 35, 529-531 (2019).
metaFARVAT: An Efficient Tool for Meta-Analysis of Family-Based, Case-Control, and Population-Based Rare Variant Association Studies. Front Genet 10, 572 (2019).
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet 104, 530-541 (2019).
Monogenic causes of chronic kidney disease in adults. Kidney Int 95, 914-928 (2019).
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol 138, 1013-1031 (2019).
Mutations in and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proc Natl Acad Sci U S A 116, 15116-15121 (2019).
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Dev Cell 51, 713-729.e6 (2019).
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Hum Mutat 40, 1813-1825 (2019).
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney Int 96, 883-889 (2019).
Mutations in PERP Cause Dominant and Recessive Keratoderma. J Invest Dermatol 139, 380-390 (2019).
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet 103, 1009-1021 (2018).
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat 39, 939-946 (2018).
matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat 39, 1827-1834 (2018).
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. Genet Med 20, 411-419 (2018).
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. Am J Hum Genet 102, 832-844 (2018).
Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees. Circ Genom Precis Med 11, e002038 (2018).
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet 14, e1007504 (2018).
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. Am J Hum Genet 103, 296-304 (2018).
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest 128, 4313-4328 (2018).
Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol 142, 605-617.e7 (2018).
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. Am J Hum Genet 102, 1143-1157 (2018).
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. Hum Mutat 39, 811-815 (2018).
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet 27, 1913-1926 (2018).
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A 176, 2460-2465 (2018).
"Matching" consent to purpose: The example of the Matchmaker Exchange. Hum Mutat 38, 1281-1285 (2017).
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MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. Am J Med Genet A 173, 2415-2421 (2017).
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. Sci Rep 7, 44185 (2017).
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. Cardiovasc Res 113, 102-111 (2017).
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet 101, 23-36 (2017).
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. Clin Genet 92, 158-165 (2017).
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet 100, 117-127 (2017).
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet 101, 815-823 (2017).
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet 101, 856-865 (2017).
Mutations in IFT-A satellite core component genes and produce short rib polydactyly syndrome with distinctive campomelia. Cilia 6, 7 (2017).
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. Am J Hum Genet 100, 978-984 (2017).
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet 49, 1529-1538 (2017).
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest 127, 912-928 (2017).
My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings. Genet Med 19, 467-475 (2017).
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Hum Mutat 37, 160-4 (2016).
Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet 17, 224-38 (2016).