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Investigative Ophthalmology & Visual Science|April 27, 2007
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataractDavid Cohen, Udy Bar-Yosef, Jaime Levy, et al.Human Molecular Genetics|October 15, 2015
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompactionEmad Muhammad, Aviva Levitas, Sonia R Singh, et al.Stem Cell Research|August 22, 2020
Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) geneDaniel Falik, Tatiana Rabinski, Dor Zlotnik, et al.American Journal of Human Genetics|October 13, 2006
PLA2G6 mutation underlies infantile neuroaxonal dystrophyShareef Khateeb, Hagit Flusser, Rivka Ofir, et al.American Journal of Medical Genetics. Part A|November 24, 2004
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)Tamar Harel, Ronen Rabinowitz, Netta Hendler, et al.Nature Genetics|June 6, 2006
Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger proteinRamon Y Birnbaum, Alex Zvulunov, Dafna Hallel-Halevy, et al.Cellular Reprogramming|February 8, 2018
Measles Virus Persistent Infection of Human Induced Pluripotent Stem CellsHila Naaman, Tatiana Rabinski, Avi Yizhak, et al.American Journal of Human Genetics|November 2, 2010
Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XIIMaya Feldshtein, Suliman Elkrinawi, Baruch Yerushalmi, et al.American Journal of Human Genetics|August 6, 2008
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9Ortal Barel, Stavit A Shalev, Rivka Ofir, et al.American Journal of Human Genetics|April 24, 2012
Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2CHila Romi, Idan Cohen, Daniella Landau, et al.Pageof 6