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Showing 1–14 of 14 results

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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 | 13 February 2020
Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
European Journal of Human Genetics 28 , 938–942

Rights & permissionsfor article Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? . 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 | 7 September 2016
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C
- Eyal Reinstein
- , Ana Gutierrez-Fernandez
- , Shay Tzur
- , Concetta Bormans
- , Shai Marcu
- , Einav Tayeb-Fligelman
- , Chana Vinkler
- , Annick Raas-Rothschild
- , Dana Irge
- , Meytal Landau
- , Mordechai Shohat
- , Xose S Puente
- , Doron M Behar
- & Carlos Lopez-Otın
European Journal of Human Genetics 24 , 1792–1796

Rights & permissionsfor article Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C . Opens in a new window.
Research | 1 February 2009
Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel
- Orit Reish
- , Zvi U Borochowitz
- , Vardit Adir
- , Mordechai Shohat
- , Mazal Karpati
- , Atalia Shtorch
- , Avi Orr-Urtreger
- , Yuval Yaron
- , Stavit Shalev
- , Fuad Fares
- , Ruth Gershoni-Baruch
- , Tzipora C Falik-Zaccai
- & Daphne Chapman-Shimshoni
Genetics in Medicine 11 , 101–103

Rights & permissionsfor article Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel . Opens in a new window.
6 December 2006
Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel
European Journal of Human Genetics 15 , 250–253

Rights & permissionsfor article Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel . Opens in a new window.
8 November 2006
Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease
European Journal of Human Genetics 15 , 242–245

Rights & permissionsfor article Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease . Opens in a new window.
28 January 1999
A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing
- Oshrat Propheta
- , Nurit Magal
- , Mordechai Shohat
- , Nurit Eyal
- , Nir Navot
- & Miri Horowitz
European Journal of Human Genetics 6 , 635–637

Rights & permissionsfor article A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing . Opens in a new window.
1 May 2009
Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel—update
- Orit Reish
- , Mordechai Shohat
- , Nurit Magal
- , Rachel Pesso
- , Zvi U Borochowitz
- , Vardit Adir
- , Mazal Karpati
- & Daphne Chapman Shimshoni
Genetics in Medicine 11 , 372–372

Rights & permissionsfor article Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel—update . Opens in a new window.
Research | 1 June 2004
The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed with Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa
- Zippora Brownstein
- , Tamar Ben-Yosef
- , Orit Dagan
- , Moshe Frydman
- , Dvorah Abeliovich
- , Michal Sagi
- , Fabian A Abraham
- , Riki Taitelbaum-Swead
- , Mordechai Shohat
- , Minka Hildesheimer
- , Thomas B Friedman
- & Karen B Avraham
Pediatric Research 55 , 995–1000

Rights & permissionsfor article The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed with Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa . Opens in a new window.
Research | 1 May 2001
Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness
- Yelena Bykhovskaya
- , Huiying Yang
- , Kent Taylor
- , Tieu Hang
- , Richard Y M Tun
- , Xavier Estivill
- , Rosaria A M S Casano
- , Kari Majamaa
- , Mordechai Shohat
- & Nathan Fischel-Ghodsian
Genetics in Medicine 3 , 177–180

Rights & permissionsfor article Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness . Opens in a new window.
Research | 9 October 2013
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing
- Zippora Brownstein
- , Amal Abu-Rayyan
- , Daphne Karfunkel-Doron
- , Serena Sirigu
- , Bella Davidov
- , Mordechai Shohat
- , Moshe Frydman
- , Anne Houdusse
- , Moien Kanaan
- & Karen B Avraham
European Journal of Human Genetics 22 , 768–775

Rights & permissionsfor article Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing . Opens in a new window.
23 February 2011
Familial Mediterranean fever—A review
- Mordechai Shohat
- & Gabrielle J Halpern
Genetics in Medicine 13 , 487–498

Rights & permissionsfor article Familial Mediterranean fever—A review . Opens in a new window.
Research | 1 July 1993
Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness
- Toni R. Prezant
- , John V. Agapian
- , M. Charlotte Bohlman
- , Xiangdong Bu
- , Sitki Öztas
- , Wei-Qin Qiu
- , Kathleen S. Arnos
- , Gino A. Cortopassi
- , Lutfi Jaber
- , Jerome I. Rotter
- , Mordechai Shohat
- & Nathan Fischel-Ghodsian
Nature Genetics 4 , 289–294

Rights & permissionsfor article Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness . Opens in a new window.

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