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Molecular Genetics and Metabolism|December 15, 2015
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian originEyal Reinstein, Pola Smirin-Yosef, Irina Lagovsky, et al.
Pediatric Dermatology|October 15, 2011
New syndrome of congenital circumferential skin folds associated with multiple congenital anomaliesLina Basel-Vanagaite, Eli Sprecher, Andrea Gat, et al.
American Journal of Human Genetics|December 17, 2009
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyGaneshwaran H Mochida, Muhammad Mahajnah, Anthony D Hill, et al.
Journal of Child Neurology|November 22, 2013
Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plusHadassa Goldberg-Stern, Sharon Aharoni, Zaid Afawi, et al.
American Journal of Human Genetics|February 15, 2002
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21Xianhua Piao, Lina Basel-Vanagaite, Rachel Straussberg, et al.
The Journal of Clinical Endocrinology and Metabolism|December 15, 2016
A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal DysgenesisPola Smirin-Yosef, Nehama Zuckerman-Levin, Shay Tzur, et al.
Arthritis and Rheumatism|January 31, 2002
An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndromeEbun Aganna, Avraham Zeharia, Graham A Hitman, et al.
Journal of Lipid Research|November 23, 2013
Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiencyDoron M Behar, Lina Basel-Vanagaite, Fabian Glaser, et al.
Pediatric Neurology|May 29, 2012
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12Ayelet Halevy, Lina Basel-Vanagaite, Avinoam Shuper, et al.
American Journal of Human Genetics|January 27, 2015
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6Andrea Masotti, Paolo Uva, Laura Davis-Keppen, et al.
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