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Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality
Author / Creator:Abu Hanna, Firas ; Zehavi, Yoav ; Cohen-Barak, Eran ; Khayat, Morad ; Warwar, Nasim ; Shreter, Roni ; Rodenburg, Richard J ; Spiegel, Ronen
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.92-92, Article 92
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Homozygote loss-of-function variants in the human COCH gene underlie hearing loss
Author / Creator:Danial-Farran, Nada ; Chervinsky, Elena ; Nadar-Ponniah, Prathamesh T ; Cohen Barak, Eran ; Taiber, Shahar ; Khayat, Morad ; Avraham, Karen B ; Shalev, Stavit A
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.338-342
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Genetics of hearing loss in the Arab population of Northern Israel
Author / Creator:Danial-Farran, Nada ; Brownstein, Zippora ; Gulsuner, Suleyman ; Tammer, Luna ; Khayat, Morad ; Aleme, Ola ; Chervinsky, Elena ; Zoubi, Olfat Aboleile ; Walsh, Tom ; Ast, Gil ; King, Mary-Claire ; Avraham, Karen B ; Shalev, Stavit A
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1840-1847
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Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally
Author / Creator:Tzadikevitch Geffen, Keren ; Singer, Amihood ; Maya, Idit ; Sagi-Dain, Lena ; Khayat, Morad ; Ben-Shachar, Shay ; Daum, Hagit ; Michaelson-Cohen, Rachel ; Feingold-Zadok, Michal ; Sukenik Halevy, Rivka
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Archives of gynecology and obstetrics, 2021-01, Vol.303 (1), p.85-92
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Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome
Author / Creator:Falik‐Zaccai, Tzipora C ; Barsheshet, Yiftah ; Mandel, Hanna ; Segev, Meital ; Lorber, Avraham ; Gelberg, Shachaf ; Kalfon, Limor ; Ben Haroush, Shani ; Shalata, Adel ; Gelernter‐Yaniv, Liat ; Chaim, Sarah ; Raviv Shay, Dorith ; Khayat, Morad ; Werbner, Michal ; Levi, Inbar ; Shoval, Yishay ; Tal, Galit ; Shalev, Stavit ; Reuveni, Eli ; Avitan‐Hersh, Emily ; Vlodavsky, Eugene ; Appl‐Sarid, Liat ; Goldsher, Dorit ; Bergman, Reuven ; Segal, Zvi ; Bitterman‐Deutsch, Ora ; Avni, Orly
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2017-03, Vol.9 (3), p.319-336
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Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome
Author / Creator:Falik‐Zaccai, Tzipora C ; Barsheshet, Yiftah ; Mandel, Hanna ; Segev, Meital ; Lorber, Avraham ; Gelberg, Shachaf ; Kalfon, Limor ; Ben Haroush, Shani ; Shalata, Adel ; Gelernter‐Yaniv, Liat ; Chaim, Sarah ; Raviv Shay, Dorith ; Khayat, Morad ; Werbner, Michal ; Levi, Inbar ; Shoval, Yishay ; Tal, Galit ; Shalev, Stavit ; Reuveni, Eli ; Avitan‐Hersh, Emily ; Vlodavsky, Eugene ; Appl‐Sarid, Liat ; Goldsher, Dorit ; Bergman, Reuven ; Segal, Zvi ; Bitterman‐Deutsch, Ora ; Avni, Orly
Publisher:England: John Wiley & Sons, Inc
Journal title:EMBO molecular medicine, 2017-09, Vol.9 (9), p.1326-1326
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Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population
Author / Creator:Abu Sa'd, Judeh ; Indelman, Margarita ; Pfendner, Ellen ; Falik-Zaccai, Tzipora C. ; Mizrachi-Koren, Mordechai ; Shalev, Stavit ; Amitai, Dani Ben ; Raas-Rothshild, Annick ; Adir-Shani, Ayelet ; Borochowitz, Zvi-Uri ; Gershoni-Baruch, Ruth ; Khayat, Morad ; Landau, Daniela ; Richard, Gabriele ; Bergman, Reuven ; Uitto, Jouni ; Kanaan, Moien ; Sprecher, Eli
Publisher:Danvers, MA: Elsevier Inc
Journal title:Journal of investigative dermatology, 2006-04, Vol.126 (4), p.777-781
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Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency
Author / Creator:Khayat, Morad
Publisher:Germany
Journal title:Human genetics, 2009-04, Vol.125 (3), p.336-336
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Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
Author / Creator:Spiegel, Ronen ; Saada, Ann ; Flannery, Padraig J ; Burté, Florence ; Soiferman, Devorah ; Khayat, Morad ; Eisner, Verónica ; Vladovski, Eugene ; Taylor, Robert W ; Bindoff, Laurence A ; Shaag, Avraham ; Mandel, Hanna ; Schuler-Furman, Ora ; Shalev, Stavit A ; Elpeleg, Orly ; Yu-Wai-Man, Patrick
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2016-02, Vol.53 (2), p.127-131
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A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia
Author / Creator:Cohen-Barak, Eran ; Danial-Farran, Nada ; Chervinsky, Elana ; Alimi-Kasem, Ola ; Zagairy, Fadia ; Livneh, Ido ; Mawassi, Bannan ; Hreish, Maysa ; Khayat, Morad ; Lossos, Alexander ; Meiner, Vardiella ; Ehilevitch, Nina ; Weiss, Karin ; Shalev, Stavit
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-03, Vol.60 (3), p.233-240
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Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
Author / Creator:Spiegel, Ronen ; Saada, Ann ; Halvardson, Jonatan ; Soiferman, Devorah ; Shaag, Avraham ; Edvardson, Simon ; Horovitz, Yoseph ; Khayat, Morad ; Shalev, Stavit A ; Feuk, Lars ; Elpeleg, Orly
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.902-906
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NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
Author / Creator:Gunay-Aygun, Meral ; Falik-Zaccai, Tzipora C ; Vilboux, Thierry ; Zivony-Elboum, Yifat ; Gumruk, Fatma ; Cetin, Mualla ; Khayat, Morad ; Boerkoel, Cornelius F ; Kfir, Nehama ; Huang, Yan ; Maynard, Dawn ; Dorward, Heidi ; Berger, Katherine ; Kleta, Robert ; Anikster, Yair ; Arat, Mutlu ; Freiberg, Andrew S ; Kehrel, Beate E ; Jurk, Kerstin ; Cruz, Pedro ; Mullikin, Jim C ; White, James G ; Huizing, Marjan ; Gahl, William A
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-08, Vol.43 (8), p.732-734
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Prenatal microarray analysis in right aortic arch—a retrospective cohort study and review of the literature
Author / Creator:Maya, Idit ; Singer, Amihood ; Baris, Hagit N ; Goldberg, Yael ; Shalata, Adel ; Khayat, Morad ; Ben-Shachar, Shay ; Sagi-Dain, Lena
Publisher:New York: Nature Publishing Group US
Journal title:Journal of perinatology, 2018-05, Vol.38 (5), p.468-473
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Long-Term Outcome of Patients with TPO Mutations
Author / Creator:Tobias, Leraz ; Elias-Assad, Ghadir ; Khayat, Morad ; Admoni, Osnat ; Almashanu, Shlomo ; Tenenbaum-Rakover, Yardena
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2021-08, Vol.10 (17), p.3898
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TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
Author / Creator:Spiegel, Ronen ; Khayat, Morad ; Shalev, Stavit A ; Horovitz, Yoseph ; Mandel, Hanna ; Hershkovitz, Eli ; Barghuti, Flora ; Shaag, Avraham ; Saada, Ann ; Korman, Stanley H ; Elpeleg, Orly ; Yatsiv, Ido
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-03, Vol.48 (3), p.177-182
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Erratum To: Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome
Author / Creator:Falik‐Zaccai, Tzipora C ; Barsheshet, Yiftah ; Mandel, Hanna ; Segev, Meital ; Lorber, Avraham ; Gelberg, Shachaf ; Kalfon, Limor ; Ben Haroush, Shani ; Shalata, Adel ; Gelernter‐Yaniv, Liat ; Chaim, Sarah ; Raviv Shay, Dorith ; Khayat, Morad ; Werbner, Michal ; Levi, Inbar ; Shoval, Yishay ; Tal, Galit ; Shalev, Stavit ; Reuveni, Eli ; Avitan‐Hersh, Emily ; Vlodavsky, Eugene ; Appl‐Sarid, Liat ; Goldsher, Dorit ; Bergman, Reuven ; Segal, Zvi ; Bitterman‐Deutsch, Ora ; Avni, Orly
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2017-09, Vol.9 (9), p.1326-1326
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Sequence variation in PPP 1R13L results in a novel form of cardio‐cutaneous syndrome
Author / Creator:Falik‐Zaccai, Tzipora C ; Barsheshet, Yiftah ; Mandel, Hanna ; Segev, Meital ; Lorber, Avraham ; Gelberg, Shachaf ; Kalfon, Limor ; Ben Haroush, Shani ; Shalata, Adel ; Gelernter‐Yaniv, Liat ; Chaim, Sarah ; Raviv Shay, Dorith ; Khayat, Morad ; Werbner, Michal ; Levi, Inbar ; Shoval, Yishay ; Tal, Galit ; Shalev, Stavit ; Reuveni, Eli ; Avitan‐Hersh, Emily ; Vlodavsky, Eugene ; Appl‐Sarid, Liat ; Goldsher, Dorit ; Bergman, Reuven ; Segal, Zvi ; Bitterman‐Deutsch, Ora ; Avni, Orly
Journal title:EMBO molecular medicine, 2017-09, Vol.9 (9), p.1326-1326
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ArticlesPeer ReviewedFull Text
Sequence variation in PPP 1R13L results in a novel form of cardio‐cutaneous syndrome
Author / Creator:Falik‐Zaccai, Tzipora C ; Barsheshet, Yiftah ; Mandel, Hanna ; Segev, Meital ; Lorber, Avraham ; Gelberg, Shachaf ; Kalfon, Limor ; Ben Haroush, Shani ; Shalata, Adel ; Gelernter‐Yaniv, Liat ; Chaim, Sarah ; Raviv Shay, Dorith ; Khayat, Morad ; Werbner, Michal ; Levi, Inbar ; Shoval, Yishay ; Tal, Galit ; Shalev, Stavit ; Reuveni, Eli ; Avitan‐Hersh, Emily ; Vlodavsky, Eugene ; Appl‐Sarid, Liat ; Goldsher, Dorit ; Bergman, Reuven ; Segal, Zvi ; Bitterman‐Deutsch, Ora ; Avni, Orly
Journal title:EMBO molecular medicine, 2017-03, Vol.9 (3), p.319-336
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Prolidase deficiency: it looks like systemic lupus erythematosus but it is not
Author / Creator:Klar, Aharon ; Navon-Elkan, Paulina ; Rubinow, Alan ; Branski, David ; Hurvitz, Haggit ; Christensen, Ernst ; Khayat, Morad ; Falik-Zaccai, Tzipora C.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2010-06, Vol.169 (6), p.727-732
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A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
Author / Creator:Zivony-Elboum, Yifat ; Westbroek, Wendy ; Kfir, Nehama ; Savitzki, David ; Shoval, Yishay ; Bloom, Assnat ; Rod, Raya ; Khayat, Morad ; Gross, Bella ; Samri, Walid ; Cohen, Hector ; Sonkin, Vadim ; Freidman, Tatiana ; Geiger, Dan ; Fattal-Valevski, Aviva ; Anikster, Yair ; Waters, Aoife M ; Kleta, Robert ; Falik-Zaccai, Tzipora C
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2012-07, Vol.49 (7), p.462-472
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Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality

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Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

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Genetics of hearing loss in the Arab population of Northern Israel

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Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally

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Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

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Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

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Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population

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Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency

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Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

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A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia

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Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

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NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

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Prenatal microarray analysis in right aortic arch—a retrospective cohort study and review of the literature

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Long-Term Outcome of Patients with TPO Mutations

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TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

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Erratum To: Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

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Sequence variation in PPP 1R13L results in a novel form of cardio‐cutaneous syndrome

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Sequence variation in PPP 1R13L results in a novel form of cardio‐cutaneous syndrome

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Prolidase deficiency: it looks like systemic lupus erythematosus but it is not

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A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

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