Judith Goodship

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

Víctor L. Ruiz‐Pérez, Susan Ide, Tim M. Strom et al. · Nature Genetics · 2000 · 350 citations

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +7

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

Masahiko Satoda, Feng Zhao, George A. Díaz et al. · Nature Genetics · 2000 · 264 citations

Mendelian Disorder, Genetic Disorder, Genetics +4

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 et al. · Nature Genetics · 1998 · 238 citations

Knockout Mouse, Cell Lineage, Inv Mouse +7

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

S. C. M. Daw, Catherine Taylor, Matthew Kraman et al. · Nature Genetics · 1996 · 219 citations

Cardiomyopathy, Cardiovascular Disease, Physiology +8

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 et al. · European Journal of Human Genetics · 2011 · 180 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +13