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Correspondence | 28 April 2020
High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines?
- Idit Maya
- , Lina Basel-Salmon
- , Ami Singer
- & Lena Sagi-Dain
Genetics in Medicine 22 , 1276–1277

Rights & permissionsfor article High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines? . Opens in a new window.
Research | 17 August 2020
When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation
- Lina Basel-Salmon
- , Noa Ruhrman-Shahar
- , Naama Orenstein
- , Yael Goldberg
- , Claudia Gonzaga-Jauregui
- , Alan R. Shuldiner
- , Rivka Sukenik-Halevy
- , Idit Maya
- , Nurit Magal
- , Ofir Hagari
- , Noy Azulay
- , Gabriel Arie Lidzbarsky
- & Lily Bazak
Genetics in Medicine 23 , 215–221

Rights & permissionsfor article When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation . Opens in a new window.
Research | 3 July 2020
Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
- Rachel Michaelson-Cohen
- , Liat Salzer-Sheelo
- , Rivka Sukenik-Halevy
- , Arie Koifman
- , Avi Fellner
- , Adi Reches
- , Daphna Marom
- , Doron M. Behar
- , Efrat Sofrin-Drucker
- , Gal Zaks-Hoffer
- , Monika Weiss-Hubshmann
- , Naama Oresntein
- , Nesia Kropach-Gilad
- , Noa Rhurman-Shahar
- , Noa Shefer Averbuch
- , Nurit Magal
- , Lily Bazak
- , Sagi Josefberg
- , Reut Matar
- , Yael Goldberg
- , Mordechai Shohat
- , Lina Basel-Salmon
- & Idit Maya
Genetics in Medicine 22 , 1703–1709

Rights & permissionsfor article Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center . Opens in a new window.
Research | 24 May 2019
Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies
- Lena Sagi-Dain
- , Lital Cohen Vig
- , Sarit Kahana
- , Shiri Yacobson
- , Tamar Tenne
- , Ifat Agmon-Fishman
- , Cochava Klein
- , Reut Matar
- , Lina Basel-Salmon
- & Idit Maya
Genetics in Medicine 21 , 2462–2467

Rights & permissionsfor article Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies . Opens in a new window.
Research | 7 January 2019
Identifying facial phenotypes of genetic disorders using deep learning
- Yaron Gurovich
- , Yair Hanani
- , Omri Bar
- , Guy Nadav
- , Nicole Fleischer
- , Dekel Gelbman
- , Lina Basel-Salmon
- , Peter M. Krawitz
- , Susanne B. Kamphausen
- , Martin Zenker
- , Lynne M. Bird
- & Karen W. Gripp
Nature Medicine 25 , 60–64

Rights & permissionsfor article Identifying facial phenotypes of genetic disorders using deep learning . Opens in a new window.
Research | 31 October 2018
Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested
Genetics in Medicine 21 , 1443–1451

Rights & permissionsfor article Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested . Opens in a new window.
Research | 26 September 2018
Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation
- Adi Shohet
- , Lior Cohen
- , Danielle Haguel
- , Yael Mozer
- , Noam Shomron
- , Shay Tzur
- , Lily Bazak
- , Lina Basel Salmon
- & Irit Krause
European Journal of Human Genetics 27 , 263–268

Rights & permissionsfor article Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation . Opens in a new window.
20 July 2017
When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations
- Idit Maya
- , Reuven Sharony
- , Shiri Yacobson
- , Sarit Kahana
- , Josepha Yeshaya
- , Tamar Tenne
- , Ifaat Agmon-Fishman
- , Lital Cohen-Vig
- , Yael Goldberg
- , Racheli Berger
- , Lina Basel-Salmon
- & Mordechai Shohat
Genetics in Medicine 20 , 128–131

Rights & permissionsfor article When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations . Opens in a new window.
Research | 8 August 2019 | Open
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities
- Renee Bend
- , Lior Cohen
- , Melissa T. Carter
- , Michael J. Lyons
- , Dmitriy Niyazov
- , Mohamad A. Mikati
- , Samantha K. Rojas
- , Richard E. Person
- , Yue Si
- , Ingrid M. Wentzensen
- , Erin Torti
- , Jennifer A. Lee
- , Kym M. Boycott
- , Lina Basel-Salmon
- , Carlos R. Ferreira
- & Claudia Gonzaga-Jauregui
European Journal of Human Genetics 28 , 76–87

Rights & permissionsfor article Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities . Opens in a new window.
Research | 4 June 2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
- Jun Shen
- , Andrea M. Oza
- , Ignacio del Castillo
- , Hatice Duzkale
- , Tatsuo Matsunaga
- , Arti Pandya
- , Hyunseok P. Kang
- , Rebecca Mar-Heyming
- , Saurav Guha
- , Krista Moyer
- , Christine Lo
- , Margaret Kenna
- , John J. Alexander
- , Yan Zhang
- , Yoel Hirsch
- , Minjie Luo
- , Ye Cao
- , Kwong Wai Choy
- , Yen-Fu Cheng
- , Karen B. Avraham
- , Xinhua Hu
- , Gema Garrido
- , Miguel A. Moreno-Pelayo
- , John Greinwald
- , Kejian Zhang
- , Yukun Zeng
- , Zippora Brownstein
- , Lina Basel-Salmon
- , Bella Davidov
- , Moshe Frydman
- , Tzvi Weiden
- , Narasimhan Nagan
- , Alecia Willis
- , Sarah E. Hemphill
- , Andrew R. Grant
- , Rebecca K. Siegert
- , Marina T. DiStefano
- , Sami S. Amr
- , Heidi L. Rehm
- , Ahmad N. Abou Tayoun
- , Hela Azaiez
- , Kevin T. Booth
- , Richard J. Smith
- , Anne B. Giersch
- , Cynthia C. Morton
- , Xue Z. Liu
- , Mustafa Tekin
- , Yu Lu
- , Huijun Yuan
- , Hideki Mutai
- & Lisa Schimmenti
Genetics in Medicine 21 , 2442–2452

Rights & permissionsfor article Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel . Opens in a new window.

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