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Items: 3


Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.

Greenbaum L, Pode-Shakked B, Eisenberg-Barzilai S, Dicastro-Keidar M, Bar-Ziv A, Goldstein N, Reznik-Wolf H, Poran H, Rigbi A, Barel O, Bertoli-Avella AM, Bauer P, Regev M, Raas-Rothschild A, Pras E, Berkenstadt M.

Front Genet. 2019 Jun 25;10:425. doi: 10.3389/fgene.2019.00425. eCollection 2019.


Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.

Eyal O, Berkenstadt M, Reznik-Wolf H, Poran H, Ziv-Baran T, Greenbaum L, Yonath H, Pras E.

Mol Genet Genomic Med. 2019 Apr;7(4):e00573. doi: 10.1002/mgg3.573. Epub 2019 Jan 28.


Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R.

J Exp Med. 2016 Jul 25;213(8):1429-40. doi: 10.1084/jem.20151618. Epub 2016 Jul 18.

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