Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Víctor L. Ruiz‐Pérez, Susan Ide, Tim M. Strom, +13

Nature Genetics

Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsNew Gene +5

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

Masahiko Satoda, Feng Zhao, George A. Díaz, +5

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsPathologyMedicine +2

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse

David O. Morgan, Lee Turnpenny, Judith Goodship, +11

Nature Genetics

Knockout MouseCell LineageInv MouseDevelopmental BiologyNovel Gene +5

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

S. C. M. Daw, Catherine Taylor, Matthew Kraman, +7

Nature Genetics

CardiomyopathyCardiovascular DiseasePhysiologyVelocardiofacial SyndromesCongenital Heart Defect +6

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Siddharth Banka, Ratna Veeramachaneni, William Reardon, +49

European Journal of Human Genetics

Mendelian DisorderAutoimmune DiseaseGenetic DisorderMedicineGenetics +11

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, +384

The American Journal of Human Genetics

Neurodevelopmental DisordersDevelopmental BiologyHeterozygous VariantsKmt2e CauseGenetics +6

A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.

David Bourn, S. A. Carter, D. Gareth Evans, +3

PubMed

Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome

Roy Wadey, S. C. M. Daw, Catherine Taylor, +8

Human Molecular Genetics

X-inactivation patterns in monozygotic and dizygotic female twins

Judith Goodship, Joan Carter, John Burn

American Journal of Medical Genetics

Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome

Stephanie Halford, David I. Wilson, S. C. M. Daw, +9

Human Molecular Genetics