Christine E. Seidman

A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease

Benoit G. Bruneau, Georges Nemer, Joachim P. Schmitt et al. · Cell · 2001 · 1.1K citations · Full text

Transcriptional Regulation, Cardiomyopathy, Molecular Physiology +7

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

Nahid G. Robertson, Leonard Lu, Stefan Heller et al. · Nature Genetics · 1998 · 336 citations

Vestibular Dysfunction, Developmental Biology, Vestibular System +11

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3

Claire L. Shovlin, J. M. B. Hughes, Edward G. D. Tuddenham et al. · Nature Genetics · 1994 · 210 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

Characterization of Endoglin and Identification of Novel Mutations in Hereditary Hemorrhagic Telangiectasia

Claire L. Shovlin, Judith M. Hughes, Jenny Scott et al. · The American Journal of Human Genetics · 1997 · 168 citations · Full text

Hereditary Hemorrhagic Telangiectasia, Genetic Disorder, Genetics +6

Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the α cardiac myosin heavy chain gene

Diane Fatkin, Michael E. Christe, Orlando Aristizábal et al. · Journal of Clinical Investigation · 1999 · 109 citations · Full text