Stavit A. Shalev

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 281 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

Zippora Brownstein, Lilach M. Friedman, Hashem Shahin et al. · Genome biology · 2011 · 201 citations · Full text

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

Christian T. Thiel, Kristin Kessler, Arno Dimmler et al. · The American Journal of Human Genetics · 2011 · 182 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +5

Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

Ortal Barel, Stavit A. Shalev, Rivka Ofir et al. · The American Journal of Human Genetics · 2008 · 180 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +5

Mutations in HPSE2 Cause Urofacial Syndrome

Sarah B. Daly, Jill Urquhart, Emma Hilton et al. · The American Journal of Human Genetics · 2010 · 108 citations · Full text

Urology, Genetic Disorder, Inherited Metabolic Disease +4