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Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin.
Wilf-Yarkoni A, Shor O, Fellner A, Hellmann MA, Pras E, Yonath H, Shkedi-Rafid S, Basel-Salmon L, Bazak L, Eliahou R, Greenbaum L, Stiebel-Kalish H, Benninger F, Goldberg Y. Wilf-Yarkoni A, et al. Neurol Genet. 2021 Mar 19;7(2):e578. doi: 10.1212/NXG.0000000000000578. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33763535 Free PMC article.
Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.
Goldberg Y, Laitman Y, Ben David M, Bazak L, Lidzbarsky G, Salmon LB, Shkedi-Rafid S, Barshack I, Avivi C, Darawshe M, Shomron N, Bruchim R, Vinkler C, Yannoukakos D, Fostira F, Bernstein-Molho R, Friedman E. Goldberg Y, et al. Hum Mutat. 2021 May;42(5):592-599. doi: 10.1002/humu.24189. Epub 2021 Mar 3. Hum Mutat. 2021. PMID: 33600035
Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews.
Lieberman S, Chen-Shtoyerman R, Levi Z, Shkedi-Rafid S, Zuckerman S, Bernstein-Molho R, Levi GR, Shachar SS, Flugelman A, Libman V, Kedar I, Naftaly-Nathan S, Lagovsky I, Peretz T, Karminsky N, Carmi S, Levy-Lahad E, Goldberg Y. Lieberman S, et al. Among authors: shkedi rafid s. Breast Cancer Res Treat. 2022 May;193(1):217-224. doi: 10.1007/s10549-022-06557-9. Epub 2022 Mar 12. Breast Cancer Res Treat. 2022. PMID: 35278150
Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy.
Libman V, Macarov M, Friedlander Y, Goldman-Mellor S, Israel S, Hochner-Celnikier D, Sompolinsky Y, Dior UP, Osovsky M, Basel-Salmon L, Wiznitzer A, Neumark Y, Meiner V, Frumkin A, Shkedi-Rafid S, Hochner H. Libman V, et al. Among authors: shkedi rafid s. Prenat Diagn. 2022 Jul;42(8):1038-1048. doi: 10.1002/pd.6162. Epub 2022 May 4. Prenat Diagn. 2022. PMID: 35484937 Free PMC article.
Role of late amniocentesis in the era of modern genomic technologies.
Daum H, Ben David A, Nadjari M, Zenvirt S, Helman S, Yanai N, Meiner V, Yagel S, Frumkin A, Shkedi Rafid S; collaborating authors. Daum H, et al. Ultrasound Obstet Gynecol. 2019 May;53(5):676-685. doi: 10.1002/uog.20113. Epub 2019 Apr 12. Ultrasound Obstet Gynecol. 2019. PMID: 30155922 Free article.
35 results