Yoav Zehavi

Affiliations

Department of Pediatrics B, Emek Medical Center, Afula, Israel; Genetic Institute, Emek Medical Center, Afula, Israel.

Publications (16)

The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis.

European journal of medical genetics

Avec: Yael Ben-David , Rephael Halevy , Waheeb Sakran , Ronen Spiegel

A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.

Metabolic brain disease

Avec: Ann Saada , Haneen Jabaly-Habib , Moshe Dessau , Avraham Shaag , Orly Elpeleg , Ronen Spiegel

A Novel Homozygous Missense Variant in the

Frontiers in pediatrics

Avec: Zufit Hexner-Erlichman , Boris Fichtman , Morad Khayat , Haneen Jabaly-Habib , Lee S Izhaki-Tavor , Moshe Dessau , Orly Elpeleg , Ronen Spiegel

Apparent Mineralocorticoid Excess in Israel: A Case Series and Literature Review.

European journal of endocrinology

Avec: Asaf Lebel , Efrat Ben Shalom , Rozan Mokatern , Raphael Halevy , Daniela Magen

Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C.

Molecular genetics and metabolism reports

Avec: Shiri Curelaru , Tal Almagor , Ronen Spiegel

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.

Orphanet journal of rare diseases

Avec: Eyal Kristal , Ben Pode-Shakked , Guy Hazan , Ehud Banne , Galina Ling , Odeya David , Eilon Shany , Annick Raas-Rothschild , Yair Anikster , Katya Kneller , Eli Hershkovitz , Yuval E Landau , Ronen Spiegel , Orna Staretz-Chacham

Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients.

Frontiers in pediatrics

Avec: Zufit Hexner-Erlichman , Maria Veiga-da-Cunha , Zahava Vadasz , Adi D Sabag , Sameh Tatour , Ronen Spiegel

Multiplex HDR for disease and correction modeling of SCID by CRISPR genome editing in human HSPCs.

Molecular therapy. Nucleic acids

Avec: Ortal Iancu , Daniel Allen , Orli Knop , Yonathan Zehavi , Dor Breier , Adaya Arbiv , Atar Lev , Yu Nee Lee , Katia Beider , Arnon Nagler , Raz Somech , Ayal Hendel

Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.

Metabolic brain disease

Avec: Hanna Mandel , Ayelet Eran , Sarit Ravid , Muhammad Abu Rashid , Erwin E W Jansen , Mirjam M C Wamelink , Ann Saada , Avraham Shaag , Orly Elpeleg , Ronen Spiegel

High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism.

European thyroid journal

Avec: Tal Almagor , Shoshana Rath , Dan Nachtigal , Zohara Sharroni , Ghadir Elias-Assad , Ora Hess , Gilad Havazelet , Ronen Spiegel , Dani Bercovich , Shlomo Almashanu , Yardena Tenenbaum-Rakover

A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation.

Molecular genetics and metabolism reports

Avec: Shiri Curelaru , Ankit K Desai , Daniel Fink , Priya S Kishnani , Ronen Spiegel

The evolving role of whole-exome sequencing in the management of disorders of sex development.

Endocrine connections

Avec: Yardena Tenenbaum-Rakover , Osnat Admoni , Ghadir Elias-Assad , Shira London , Marie Noufi-Barhoum , Hanna Ludar , Tal Almagor , Charles Sultan , Rita Bertalan , Anu Bashamboo , Kenneth McElreavey

Identification of evolutionarily conserved downstream core promoter elements required for the transcriptional regulation of Fushi tarazu target genes.

PloS one

Avec: Hila Shir-Shapira , Anna Sloutskin , Orit Adato , Avital Ovadia-Shochat , Diana Ideses , Yonathan Zehavi , George Kassavetis , James T Kadonaga , Ron Unger , Tamar Juven-Gershon

The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.

Clinical genetics

Avec: Morad Khayat , Nada Danial-Farran , Elena Chervinsky , Lilach Peled-Peretz , Chen Gafni-Amsalem , Shadia Hakrosh , Olfat Abu-Leil Zouabi , Liron Tamir , Efrat Mamlouk , Joël Zlotogora , Stavit A Shalev

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.

Orphanet journal of rare diseases

Avec: Firas Abu Hanna , Eran Cohen-Barak , Morad Khayat , Nasim Warwar , Roni Shreter , Richard J Rodenburg , Ronen Spiegel

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

American journal of human genetics

Avec: Mauro Lecca , Davut Pehlivan , Damià Heine Suñer , Karin Weiss , Thibault Coste , Markus Zweier , Yavuz Oktay , Nada Danial-Farran , Vittorio Rosti , Maria Paola Bonasoni , Alessandro Malara , Gianluca Contrò , Roberta Zuntini , Marzia Pollazzon , Rosario Pascarella , Alberto Neri , Carlo Fusco , Dana Marafi , Tadahiro Mitani , Jennifer Ellen Posey , Sadik Etka Bayramoglu , Alper Gezdirici , Jessica Hernandez-Rodriguez , Emilia Amengual Cladera , Elena Miravet , Jorge Roldan-Busto , María Angeles Ruiz , Cristofol Vives Bauzá , Liat Ben-Sira , Sabine Sigaudy , Anaïs Begemann , Sheila Unger , Serdal Güngör , Semra Hiz , Ece Sonmezler , Michael Jerdev , Alessandra Balduini , Orsetta Zuffardi , Rita Horvath , Hanns Lochmüller , Anita Rauch , Livia Garavelli , Elisabeth Tournier-Lasserve , Ronen Spiegel , James R Lupski , Edoardo Errichiello

Réseau de co-auteurs

Ronen Spiegel 11 collaborations

Orly Elpeleg 3 collaborations

Morad Khayat 3 collaborations

Tal Almagor 3 collaborations

Ann Saada 2 collaborations

Haneen Jabaly-Habib 2 collaborations

Moshe Dessau 2 collaborations

Avraham Shaag 2 collaborations

Zufit Hexner-Erlichman 2 collaborations

Shiri Curelaru 2 collaborations

Yonathan Zehavi 2 collaborations

Ghadir Elias-Assad 2 collaborations

Yardena Tenenbaum-Rakover 2 collaborations

Nada Danial-Farran 2 collaborations

Yael Ben-David 1 collaboration

Rephael Halevy 1 collaboration

Waheeb Sakran 1 collaboration

Boris Fichtman 1 collaboration

Lee S Izhaki-Tavor 1 collaboration

Asaf Lebel 1 collaboration

Efrat Ben Shalom 1 collaboration

Rozan Mokatern 1 collaboration

Raphael Halevy 1 collaboration

Daniela Magen 1 collaboration

Eyal Kristal 1 collaboration

Ben Pode-Shakked 1 collaboration

Guy Hazan 1 collaboration

Ehud Banne 1 collaboration

Galina Ling 1 collaboration

Odeya David 1 collaboration

Eilon Shany 1 collaboration

Annick Raas-Rothschild 1 collaboration

Yair Anikster 1 collaboration

Katya Kneller 1 collaboration

Eli Hershkovitz 1 collaboration

Yuval E Landau 1 collaboration

Orna Staretz-Chacham 1 collaboration

Maria Veiga-da-Cunha 1 collaboration

Zahava Vadasz 1 collaboration

Adi D Sabag 1 collaboration

Sameh Tatour 1 collaboration

Ortal Iancu 1 collaboration

Daniel Allen 1 collaboration

Orli Knop 1 collaboration

Dor Breier 1 collaboration

Adaya Arbiv 1 collaboration

Atar Lev 1 collaboration

Yu Nee Lee 1 collaboration

Katia Beider 1 collaboration

Arnon Nagler 1 collaboration

Raz Somech 1 collaboration

Ayal Hendel 1 collaboration

Hanna Mandel 1 collaboration

Ayelet Eran 1 collaboration

Sarit Ravid 1 collaboration

Muhammad Abu Rashid 1 collaboration

Erwin E W Jansen 1 collaboration

Mirjam M C Wamelink 1 collaboration

Shoshana Rath 1 collaboration

Dan Nachtigal 1 collaboration

Zohara Sharroni 1 collaboration

Ora Hess 1 collaboration

Gilad Havazelet 1 collaboration

Dani Bercovich 1 collaboration

Shlomo Almashanu 1 collaboration

Ankit K Desai 1 collaboration

Daniel Fink 1 collaboration

Priya S Kishnani 1 collaboration

Osnat Admoni 1 collaboration

Shira London 1 collaboration

Marie Noufi-Barhoum 1 collaboration

Hanna Ludar 1 collaboration

Charles Sultan 1 collaboration

Rita Bertalan 1 collaboration

Anu Bashamboo 1 collaboration

Kenneth McElreavey 1 collaboration

Hila Shir-Shapira 1 collaboration

Anna Sloutskin 1 collaboration

Orit Adato 1 collaboration

Avital Ovadia-Shochat 1 collaboration

Diana Ideses 1 collaboration

George Kassavetis 1 collaboration

James T Kadonaga 1 collaboration

Ron Unger 1 collaboration

Tamar Juven-Gershon 1 collaboration

Elena Chervinsky 1 collaboration

Lilach Peled-Peretz 1 collaboration

Chen Gafni-Amsalem 1 collaboration

Shadia Hakrosh 1 collaboration

Olfat Abu-Leil Zouabi 1 collaboration

Liron Tamir 1 collaboration

Efrat Mamlouk 1 collaboration

Joël Zlotogora 1 collaboration

Stavit A Shalev 1 collaboration

Firas Abu Hanna 1 collaboration

Eran Cohen-Barak 1 collaboration

Nasim Warwar 1 collaboration

Roni Shreter 1 collaboration

Richard J Rodenburg 1 collaboration

Mauro Lecca 1 collaboration

Davut Pehlivan 1 collaboration

Damià Heine Suñer 1 collaboration

Karin Weiss 1 collaboration

Thibault Coste 1 collaboration

Markus Zweier 1 collaboration

Yavuz Oktay 1 collaboration

Vittorio Rosti 1 collaboration

Maria Paola Bonasoni 1 collaboration

Alessandro Malara 1 collaboration

Gianluca Contrò 1 collaboration

Roberta Zuntini 1 collaboration

Marzia Pollazzon 1 collaboration

Rosario Pascarella 1 collaboration

Alberto Neri 1 collaboration

Carlo Fusco 1 collaboration

Dana Marafi 1 collaboration

Tadahiro Mitani 1 collaboration

Jennifer Ellen Posey 1 collaboration

Sadik Etka Bayramoglu 1 collaboration

Alper Gezdirici 1 collaboration

Jessica Hernandez-Rodriguez 1 collaboration

Emilia Amengual Cladera 1 collaboration

Elena Miravet 1 collaboration

Jorge Roldan-Busto 1 collaboration

María Angeles Ruiz 1 collaboration

Cristofol Vives Bauzá 1 collaboration

Liat Ben-Sira 1 collaboration

Sabine Sigaudy 1 collaboration

Anaïs Begemann 1 collaboration

Sheila Unger 1 collaboration

Serdal Güngör 1 collaboration

Semra Hiz 1 collaboration

Ece Sonmezler 1 collaboration

Michael Jerdev 1 collaboration

Alessandra Balduini 1 collaboration

Orsetta Zuffardi 1 collaboration

Rita Horvath 1 collaboration

Hanns Lochmüller 1 collaboration

Anita Rauch 1 collaboration

Livia Garavelli 1 collaboration

Elisabeth Tournier-Lasserve 1 collaboration

James R Lupski 1 collaboration

Edoardo Errichiello 1 collaboration