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Neurology|February 12, 2017
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndromeAdi Aran, Reeval Segel, Kota Kaneshige, et al.The New England Journal of Medicine|September 13, 2018
Essential Role of BRCA2 in Ovarian Development and FunctionAriella Weinberg-Shukron, Mariana Rachmiel, Paul Renbaum, et al.Stem Cells and Development|May 19, 2011
Female sex bias in human embryonic stem cell linesDalit Ben-Yosef, Ami Amit, Mira Malcov, et al.Proceedings of the National Academy of Sciences of the United States of America|September 7, 2014
Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2Efrat Gabai-Kapara, Amnon Lahad, Bella Kaufman, et al.Neurology|May 11, 2016
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infectionAdi Aran, Nuphar Rosenfeld, Ranit Jaron, et al.The Journal of Clinical Endocrinology and Metabolism|June 24, 2026
Reversible Mitochondrial Iron Toxicity in Wolfram Syndrome Type 2 Monogenic DiabetesAmitay Cohen, Ola Karmi, Ulla Najwa Abdulhag, et al.Breast Cancer Research and Treatment|August 28, 2010
The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriersBella Kaufman, Yael Laitman, Elad Ziv, et al.Journal of Medical Genetics|May 17, 2018
Mitochondrial <i>PITRM1</i> peptidase loss-of-function in childhood cerebellar atrophyYeshaya Langer, Adi Aran, Suleyman Gulsuner, et al.Journal of Medical Genetics|July 29, 2021
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsyMichal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, et al.Gastroenterology|June 21, 2011
Single nucleotide polymorphisms that increase expression of the guanosine triphosphatase RAC1 are associated with ulcerative colitisAleixo M Muise, Thomas Walters, Wei Xu, et al.Pageof 8