Tom Harel

Publications (6)

Grandparental genotyping enhances exome variant interpretation.

American journal of medical genetics. Part A

Avec: Hagit Daum , Hagar Mor-Shaked , Asaf Ta-Shma , Avraham Shaag , Shira Silverstein , Mordechai Shohat , Orly Elpeleg , Vardiella Meiner , Tamar Harel

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.

Nature communications

Avec: Paige B Martin , Yu Kigoshi-Tansho , Roger B Sher , Gianina Ravenscroft , Jennifer E Stauffer , Rajesh Kumar , Ryo Yonashiro , Tina Müller , Christopher Griffith , William Allen , Davut Pehlivan , Tamar Harel , Martin Zenker , Denise Howting , Denny Schanze , Eissa A Faqeih , Naif A M Almontashiri , Reza Maroofian , Henry Houlden , Neda Mazaheri , Hamid Galehdari , Ganka Douglas , Jennifer E Posey , Monique Ryan , James R Lupski , Nigel G Laing , Claudio A P Joazeiro , Gregory A Cox

Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.

Brain : a journal of neurology

Avec: Shlomit Ezer , Muhannad Daana , Julien H Park , Shira Yanovsky-Dagan , Ulrika Nordström , Adily Basal , Simon Edvardson , Ann Saada , Markus Otto , Vardiella Meiner , Stefan L Marklund , Peter Munch Andersen , Tamar Harel

Exome sequencing for structurally normal fetuses-yields and ethical issues.

European journal of human genetics : EJHG

Avec: Hagit Daum , Tamar Harel , Talya Millo , Avital Eilat , Duha Fahham , Shiri Gershon-Naamat , Adily Basal , Chaggai Rosenbluh , Nili Yanai , Shay Porat , Doron Kabiri , Simcha Yagel , Dan V Valsky , Orly Elpeleg , Vardiella Meiner , Hagar Mor-Shaked

New onset or relapsing neuromyelitis optica temporally associated with SARS-CoV-2 infection and COVID-19 vaccination: a systematic review.

Frontiers in neurology

Avec: Tamar Harel , Emily F Gorman , Mitchell T Wallin

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Jonathan Rips , Orli Halstuk , Adina Fuchs , Ziv Lang , Tal Sido , Shiri Gershon-Naamat , Bassam Abu-Libdeh , Simon Edvardson , Somaya Salah , Oded Breuer , Mohamad Hadhud , Sharon Eden , Itamar Simon , Mordechai Slae , Nadirah S Damseh , Abdulsalam Abu-Libdeh , Marina Eskin-Schwartz , Ohad S Birk , Julia Varga , Ora Schueler-Furman , Chaggai Rosenbluh , Orly Elpeleg , Shira Yanovsky-Dagan , Hagar Mor-Shaked , Tamar Harel

Réseau de co-auteurs

Tamar Harel 6 collaborations

Hagar Mor-Shaked 3 collaborations

Orly Elpeleg 3 collaborations

Vardiella Meiner 3 collaborations

Hagit Daum 2 collaborations

Shira Yanovsky-Dagan 2 collaborations

Adily Basal 2 collaborations

Simon Edvardson 2 collaborations

Shiri Gershon-Naamat 2 collaborations

Chaggai Rosenbluh 2 collaborations

Asaf Ta-Shma 1 collaboration

Avraham Shaag 1 collaboration

Shira Silverstein 1 collaboration

Mordechai Shohat 1 collaboration

Paige B Martin 1 collaboration

Yu Kigoshi-Tansho 1 collaboration

Roger B Sher 1 collaboration

Gianina Ravenscroft 1 collaboration

Jennifer E Stauffer 1 collaboration

Rajesh Kumar 1 collaboration

Ryo Yonashiro 1 collaboration

Tina Müller 1 collaboration

Christopher Griffith 1 collaboration

William Allen 1 collaboration

Davut Pehlivan 1 collaboration

Martin Zenker 1 collaboration

Denise Howting 1 collaboration

Denny Schanze 1 collaboration

Eissa A Faqeih 1 collaboration

Naif A M Almontashiri 1 collaboration

Reza Maroofian 1 collaboration

Henry Houlden 1 collaboration

Neda Mazaheri 1 collaboration

Hamid Galehdari 1 collaboration

Ganka Douglas 1 collaboration

Jennifer E Posey 1 collaboration

Monique Ryan 1 collaboration

James R Lupski 1 collaboration

Nigel G Laing 1 collaboration

Claudio A P Joazeiro 1 collaboration

Gregory A Cox 1 collaboration

Shlomit Ezer 1 collaboration

Muhannad Daana 1 collaboration

Julien H Park 1 collaboration

Ulrika Nordström 1 collaboration

Ann Saada 1 collaboration

Markus Otto 1 collaboration

Stefan L Marklund 1 collaboration

Peter Munch Andersen 1 collaboration

Talya Millo 1 collaboration

Avital Eilat 1 collaboration

Duha Fahham 1 collaboration

Nili Yanai 1 collaboration

Shay Porat 1 collaboration

Doron Kabiri 1 collaboration

Simcha Yagel 1 collaboration

Dan V Valsky 1 collaboration

Emily F Gorman 1 collaboration

Mitchell T Wallin 1 collaboration

Jonathan Rips 1 collaboration

Orli Halstuk 1 collaboration

Adina Fuchs 1 collaboration

Ziv Lang 1 collaboration

Tal Sido 1 collaboration

Bassam Abu-Libdeh 1 collaboration

Somaya Salah 1 collaboration

Oded Breuer 1 collaboration

Mohamad Hadhud 1 collaboration

Sharon Eden 1 collaboration

Itamar Simon 1 collaboration

Mordechai Slae 1 collaboration

Nadirah S Damseh 1 collaboration

Abdulsalam Abu-Libdeh 1 collaboration

Marina Eskin-Schwartz 1 collaboration

Ohad S Birk 1 collaboration

Julia Varga 1 collaboration

Ora Schueler-Furman 1 collaboration