Zvi Borochowitz

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

Roxanne Y. Walder, Daniel Landau, Peter Meyer et al. · Nature Genetics · 2002 · 561 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

Hannah Mandel, Revital Shemer, Zvi Borochowitz et al. · The American Journal of Human Genetics · 2008 · 277 citations · Full text

Developmental Anomaly, Clinical Disorders, Loss-of-function Mutation +9

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Peter Nürnberg, Hölger Thiele, David Chandler et al. · Nature Genetics · 2001 · 240 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +10

Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations

William A. Paznekas, Michael L. Cunningham, Timothy D. Howard et al. · The American Journal of Human Genetics · 1998 · 218 citations · Full text

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Belinda Campos‐Xavier, Danielle Martinet, John F. Bateman et al. · The American Journal of Human Genetics · 2009 · 112 citations · Full text

Impair Endochondral Ossification, Genetics, Pathology +4