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The Journal of Experimental Medicine|November 24, 2020
Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defectsAtar Lev, Yu Nee Lee, Guangping Sun, et al.Frontiers in Genetics|January 26, 2023
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disordersMaayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, et al.Journal of Medical Genetics|July 3, 2021
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defectsYoav Bolkier, Ortal Barel, Dina Marek-Yagel, et al.The Journal of Experimental Medicine|July 20, 2016
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defectsAmos J Simon, Atar Lev, Yong Zhang, et al.International Journal of Cancer|October 10, 2022
Proteomic signature for detection of high-grade ovarian cancer in germline BRCA mutation carriersKeren Bahar-Shany, Georgina D Barnabas, Lisa Deutsch, et al.The New England Journal of Medicine|June 7, 2013
A congenital neutrophil defect syndrome associated with mutations in VPS45Thierry Vilboux, Atar Lev, May Christine V Malicdan, et al.Clinical Kidney Journal|February 10, 2025
Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis populationDror Ben-Ruby, Danit Atias-Varon, Maayan Kagan, et al.Cancer Discovery|July 14, 2023
Spectrum of Response to Platinum and PARP Inhibitors in Germline BRCA-Associated Pancreatic Cancer in the Clinical and Preclinical SettingChani Stossel, Maria Raitses-Gurevich, Dikla Atias, et al.Brain : a Journal of Neurology|April 2, 2017
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathyOrtal Barel, May Christine V Malicdan, Bruria Ben-Zeev, et al.Pediatric Nephrology (Berlin, Germany)|January 7, 2022
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insightsBen Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, et al.Pageof 33