Phenotypic compatibility and specificity in genomic variant classification.

Autor: Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, 4941492, Israel. basel@tauex.tau.ac.il.; Faculty of Medicine, Tel Aviv University, Tel Aviv, 6997801, Israel. basel@tauex.tau.ac.il.; Felsenstein Medical Research Center, Petach Tikva, 4920235, Israel. basel@tauex.tau.ac.il.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 May; Vol. 32 (5), pp. 471-473. Date of Electronic Publication: 2024 Feb 13.

Regions of Homozygocity size patterns among diverse ethnic groups in Israel: Toward tailored diagnostic reporting thresholds.

Autor: Maya I; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.; School of Medicine, Faculty of Medical and Health sciences, Tel Aviv University, Tel Aviv, Israel., Levy M; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel., Matar R; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel., Kahana S; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel., Agmon-Fishman I; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel., Klein C; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel., Gurevitch M; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel., Basel-Salmon L; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.; School of Medicine, Faculty of Medical and Health sciences, Tel Aviv University, Tel Aviv, Israel.; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel., Sagi-Dain L; Genetics Institute, Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63839. Date of Electronic Publication: 2024 Aug 15.

A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrum.

Autor: Regev M; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer 5262000, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel. Electronic address: miriam.regev@sheba.gov.il., Dori A; Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva 4941492, Israel. Electronic address: amir.dori@sheba.gov.il., Altarescu G; Medical Genetics Institute, Zohar PGD Unit, Shaare Zedek Medical Center, Jerusalem 9103102, Israel; Faculty of Medicine, Hebrew University, Jerusalem 9112102, Israel. Electronic address: gheona@szmc.org.il., Barel O; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer 5262000, Israel. Electronic address: ortal.barel@sheba.gov.il., Basel-Salmon L; Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva 4941492, Israel. Electronic address: linab@clalit.org.il., Greenbaum L; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer 5262000, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer 5262000, Israel. Electronic address: lior.greenbaum@sheba.gov.il., Fellner A; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva 4941492, Israel. Electronic address: avi.fellner@gmail.com., Pras E; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer 5262000, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel. Electronic address: elon.prasprof@sheba.gov.il., Shamash J; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer 5262000, Israel. Electronic address: jana.shamash@sheba.gov.il., Meiner V; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel. Electronic address: vmeiner@hadassah.org.il., Bazak L; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva 4941492, Israel. Electronic address: lilybazak@clalit.org.il., Goldberg Y; Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva 4941492, Israel. Electronic address: yaelgo43@gmail.com.

Publikováno v: Gene [Gene] 2024 Nov 15; Vol. 927, pp. 148725. Date of Electronic Publication: 2024 Jun 22.

Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort.

Autor: Brabbing-Goldstein D; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.; Ultrasound Unit, Helen Schneider Women's Hospital, Rabin Medical Center, Petah Tikva, Israel., Bazak L; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel., Ruhrman-Shahar N; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel., Lidzbarsky GA; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel., Orenstein N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel., Lifshiz-Kalis M; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel., Asia-Batzir N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel., Goldberg Y; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel., Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2024 Sep 05. Date of Electronic Publication: 2024 Sep 05.

Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.

Autor: Sukenik-Halevy R; Genetic Institute, Meir Medical Center, Kfar Saba, Israel. Riki.sukenik@gmail.com.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel. Riki.sukenik@gmail.com., Mevorach N; Genetic Institute, Meir Medical Center, Kfar Saba, Israel., Basel-Salmon L; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel.; Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel.; Pediatric Genetics Unit, Schneider Children's Medical Center, Petah Tikva, Israel., Matar RT; Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel., Kahana S; Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel., Klein K; Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel., Agmon-Fishman I; Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel., Levy M; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel., Maya I; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel.

Publikováno v: Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2024 Sep; Vol. 310 (3), pp. 1547-1554. Date of Electronic Publication: 2024 Mar 18.