Joël Zlotogora

The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.

Dvorah Abeliovich, Luna Kaduri, Israela Lerer et al. · PubMed · 1997 · 359 citations

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza et al. · Genetics in Medicine · 2011 · 333 citations · Full text

Intimate Relationship, Gender Studies, Sociology +8

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

Koji Suzuki, Diane Hu, Tania Bustos et al. · Nature Genetics · 2000 · 329 citations

Cleft Lip/palate-ectodermal Dysplasia, Molecular Virology, Pathogenesis +8

Polyglandular autoimmune syndrome type I among Iranian Jews.

Joël Zlotogora, Mia Shapiro · Journal of Medical Genetics · 1992 · 315 citations · Full text

Immunodeficiencies, Immunology, Pathology +18

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Susanna Annunen, Jarmo Körkkö, Malwina Czarny‐Ratajczak et al. · The American Journal of Human Genetics · 1999 · 258 citations · Full text

Systems Biology, Mendelian Disorder, Genetic Disorder +8