Elisheva Javasky

Affiliations

The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.
Cancer Research Center, Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Israel.

Publications (10)

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.

The Journal of experimental medicine

Avec: Atar Lev , Yu Nee Lee , Guangping Sun , Enas Hallumi , Amos J Simon , Keren S Zrihen , Shiran Levy , Tal Beit Halevi , Maria Papazian , Neta Shwartz , Ido Somekh , Sarina Levy-Mendelovich , Baruch Wolach , Ronit Gavrieli , Helly Vernitsky , Ortal Barel , Elisheva Javasky , Tali Stauber , Chi A Ma , Yuan Zhang , Ninette Amariglio , Gideon Rechavi , Ayal Hendel , Deborah Yablonski , Joshua D Milner , Raz Somech

Refining the Phenotypic Spectrum of

Frontiers in pediatrics

Avec: Aviva Eliyahu , Ortal Barel , Lior Greenbaum , Gal Zaks Hoffer , Yael Goldberg , Annick Raas-Rothschild , Amihood Singer , Ifat Bar-Joseph , Vered Kunik , Elisheva Javasky , Orna Staretz-Chacham , Naomi Pode-Shakked , Lily Bazak , Noa Ruhrman-Shahar , Elon Pras , Moshe Frydman , Mordechai Shohat , Ben Pode-Shakked

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.

Journal of medical genetics

Avec: Yoav Bolkier , Ortal Barel , Dina Marek-Yagel , Danit Atias-Varon , Maayan Kagan , Amir Vardi , David Mishali , Uriel Katz , Yishay Salem , Tal Tirosh-Wagner , Jeffrey M Jacobson , Annick Raas-Rothschild , Odelia Chorin , Aviva Eliyahu , Yarden Sarouf , Omer Shlomovitz , Alvit Veber , Nechama Shalva , Elisheva Javasky , Yishay Ben Moshe , Orna Staretz-Chacham , Gideon Rechavi , Shrikant Mane , Yair Anikster , Asaf Vivante , Ben Pode-Shakked

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

Pediatric nephrology (Berlin, Germany)

Avec: Ben Pode-Shakked , Yishay Ben-Moshe , Ortal Barel , Lilach C Regev , Maayan Kagan , Aviva Eliyahu , Dina Marek-Yagel , Danit Atias-Varon , Einat Lahav , Naomi Issler , Omer Shlomovitz , Rotem Semo Oz , Nitzan Kol , Nofar Mor , Ifat Bar-Joseph , Yulia Khavkin , Elisheva Javasky , Pazit Beckerman , Meidad Greenberg , Oded Volovelsky , Yael Borovitz , Miriam Davidovits , Orly Haskin , Hadas Alfandary , Shely Levi , Maital Kaidar , Ze'ev Katzir , Avital Angel-Korman , Rachel Becker-Cohen , Efrat Ben-Shalom , Adi Leiba , Eytan Mor , Amit Dagan , Itai M Pessach , Danny Lotan , Moshe Shashar , Yair Anikster , Annick Raas-Rothschild , Gideon Rechavi , Benjamin Dekel , Asaf Vivante

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

The Journal of clinical investigation

Avec: Sarah L Stenton , Natalia L Sheremet , Claudia B Catarino , Natalia A Andreeva , Zahra Assouline , Piero Barboni , Ortal Barel , Riccardo Berutti , Igor Bychkov , Leonardo Caporali , Mariantonietta Capristo , Michele Carbonelli , Maria L Cascavilla , Peter Charbel Issa , Peter Freisinger , Sylvie Gerber , Daniele Ghezzi , Elisabeth Graf , Juliana Heidler , Maja Hempel , Elise Heon , Yulya S Itkis , Elisheva Javasky , Josseline Kaplan , Robert Kopajtich , Cornelia Kornblum , Reka Kovacs-Nagy , Tatiana D Krylova , Wolfram S Kunz , Chiara La Morgia , Costanza Lamperti , Christina Ludwig , Pedro F Malacarne , Alessandra Maresca , Johannes A Mayr , Jana Meisterknecht , Tatiana A Nevinitsyna , Flavia Palombo , Ben Pode-Shakked , Maria S Shmelkova , Tim M Strom , Francesca Tagliavini , Michal Tzadok , Amelie T van der Ven , Catherine Vignal-Clermont , Matias Wagner , Ekaterina Y Zakharova , Nino V Zhorzholadze , Jean-Michel Rozet , Valerio Carelli , Polina G Tsygankova , Thomas Klopstock , Ilka Wittig , Holger Prokisch

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).

American journal of medical genetics. Part A

Avec: Dina Marek-Yagel , Aviva Eliyahu , Alvit Veber , Nechama Shalva , Amit Mary Philosoph , Ortal Barel , Elisheva Javasky , Ben Pode-Shakked , Neta Loewenthal , Yair Anikster , Orna Staretz-Chacham

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.

Scientific reports

Avec: Ben Pode-Shakked , Ortal Barel , Amihood Singer , Miriam Regev , Hana Poran , Aviva Eliyahu , Yael Finezilber , Meirav Segev , Michal Berkenstadt , Hagith Yonath , Haike Reznik-Wolf , Yael Gazit , Odelia Chorin , Gali Heimer , Lidia V Gabis , Michal Tzadok , Andreea Nissenkorn , Omer Bar-Yosef , Efrat Zohar-Dayan , Bruria Ben-Zeev , Nofar Mor , Nitzan Kol , Omri Nayshool , Noam Shimshoviz , Ifat Bar-Joseph , Dina Marek-Yagel , Elisheva Javasky , Reviva Einy , Moran Gal , Julia Grinshpun-Cohen , Mordechai Shohat , Dan Dominissini , Annick Raas-Rothschild , Gideon Rechavi , Elon Pras , Lior Greenbaum

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.

Molecular genetics and metabolism reports

Avec: Yuval E Landau , Gali Heimer , Ortal Barel , Nechama Shalva , Dina Marek-Yagel , Alvit Veber , Elisheva Javasky , Aya Shilon , Andreea Nissenkorn , Bruria Ben-Zeev , Yair Anikster

Neonatal osteoma cutis due to a mutation in GNAS.

Pediatric dermatology

Avec: Yael Levy-Shraga , Ortal Barel , Elisheva Javasky , Aviv Barzilai , Shoshana Greenberger

Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain-of-function.

Clinical and experimental immunology

Avec: Oded Shamriz , Atar Lev , Amos J Simon , Ortal Barel , Elisheva Javasky , Sigal Matza-Porges , Adir Shaulov , Zev Davidovics , Ori Toker , Raz Somech , Abraham Zlotogorski , Vered Molho-Pessach , Yuval Tal

Réseau de co-auteurs

Ortal Barel 10 collaborations

Ben Pode-Shakked 6 collaborations

Aviva Eliyahu 5 collaborations

Dina Marek-Yagel 5 collaborations

Gideon Rechavi 4 collaborations

Annick Raas-Rothschild 4 collaborations

Yair Anikster 4 collaborations

Ifat Bar-Joseph 3 collaborations

Orna Staretz-Chacham 3 collaborations

Alvit Veber 3 collaborations

Nechama Shalva 3 collaborations

Atar Lev 2 collaborations

Amos J Simon 2 collaborations

Raz Somech 2 collaborations

Lior Greenbaum 2 collaborations

Amihood Singer 2 collaborations

Elon Pras 2 collaborations

Mordechai Shohat 2 collaborations

Danit Atias-Varon 2 collaborations

Maayan Kagan 2 collaborations

Odelia Chorin 2 collaborations

Omer Shlomovitz 2 collaborations

Asaf Vivante 2 collaborations

Nitzan Kol 2 collaborations

Nofar Mor 2 collaborations

Michal Tzadok 2 collaborations

Gali Heimer 2 collaborations

Andreea Nissenkorn 2 collaborations

Bruria Ben-Zeev 2 collaborations

Yu Nee Lee 1 collaboration

Guangping Sun 1 collaboration

Enas Hallumi 1 collaboration

Keren S Zrihen 1 collaboration

Shiran Levy 1 collaboration

Tal Beit Halevi 1 collaboration

Maria Papazian 1 collaboration

Neta Shwartz 1 collaboration

Ido Somekh 1 collaboration

Sarina Levy-Mendelovich 1 collaboration

Baruch Wolach 1 collaboration

Ronit Gavrieli 1 collaboration

Helly Vernitsky 1 collaboration

Tali Stauber 1 collaboration

Chi A Ma 1 collaboration

Yuan Zhang 1 collaboration

Ninette Amariglio 1 collaboration

Ayal Hendel 1 collaboration

Deborah Yablonski 1 collaboration

Joshua D Milner 1 collaboration

Gal Zaks Hoffer 1 collaboration

Yael Goldberg 1 collaboration

Vered Kunik 1 collaboration

Naomi Pode-Shakked 1 collaboration

Lily Bazak 1 collaboration

Noa Ruhrman-Shahar 1 collaboration

Moshe Frydman 1 collaboration

Yoav Bolkier 1 collaboration

Amir Vardi 1 collaboration

David Mishali 1 collaboration

Uriel Katz 1 collaboration

Yishay Salem 1 collaboration

Tal Tirosh-Wagner 1 collaboration

Jeffrey M Jacobson 1 collaboration

Yarden Sarouf 1 collaboration

Yishay Ben Moshe 1 collaboration

Shrikant Mane 1 collaboration

Yishay Ben-Moshe 1 collaboration

Lilach C Regev 1 collaboration

Einat Lahav 1 collaboration

Naomi Issler 1 collaboration

Rotem Semo Oz 1 collaboration

Yulia Khavkin 1 collaboration

Pazit Beckerman 1 collaboration

Meidad Greenberg 1 collaboration

Oded Volovelsky 1 collaboration

Yael Borovitz 1 collaboration

Miriam Davidovits 1 collaboration

Orly Haskin 1 collaboration

Hadas Alfandary 1 collaboration

Shely Levi 1 collaboration

Maital Kaidar 1 collaboration

Ze'ev Katzir 1 collaboration

Avital Angel-Korman 1 collaboration

Rachel Becker-Cohen 1 collaboration

Efrat Ben-Shalom 1 collaboration

Adi Leiba 1 collaboration

Eytan Mor 1 collaboration

Amit Dagan 1 collaboration

Itai M Pessach 1 collaboration

Danny Lotan 1 collaboration

Moshe Shashar 1 collaboration

Benjamin Dekel 1 collaboration

Sarah L Stenton 1 collaboration

Natalia L Sheremet 1 collaboration

Claudia B Catarino 1 collaboration

Natalia A Andreeva 1 collaboration

Zahra Assouline 1 collaboration

Piero Barboni 1 collaboration

Riccardo Berutti 1 collaboration

Igor Bychkov 1 collaboration

Leonardo Caporali 1 collaboration

Mariantonietta Capristo 1 collaboration

Michele Carbonelli 1 collaboration

Maria L Cascavilla 1 collaboration

Peter Charbel Issa 1 collaboration

Peter Freisinger 1 collaboration

Sylvie Gerber 1 collaboration

Daniele Ghezzi 1 collaboration

Elisabeth Graf 1 collaboration

Juliana Heidler 1 collaboration

Maja Hempel 1 collaboration

Elise Heon 1 collaboration

Yulya S Itkis 1 collaboration

Josseline Kaplan 1 collaboration

Robert Kopajtich 1 collaboration

Cornelia Kornblum 1 collaboration

Reka Kovacs-Nagy 1 collaboration

Tatiana D Krylova 1 collaboration

Wolfram S Kunz 1 collaboration

Chiara La Morgia 1 collaboration

Costanza Lamperti 1 collaboration

Christina Ludwig 1 collaboration

Pedro F Malacarne 1 collaboration

Alessandra Maresca 1 collaboration

Johannes A Mayr 1 collaboration

Jana Meisterknecht 1 collaboration

Tatiana A Nevinitsyna 1 collaboration

Flavia Palombo 1 collaboration

Maria S Shmelkova 1 collaboration

Tim M Strom 1 collaboration

Francesca Tagliavini 1 collaboration

Amelie T van der Ven 1 collaboration

Catherine Vignal-Clermont 1 collaboration

Matias Wagner 1 collaboration

Ekaterina Y Zakharova 1 collaboration

Nino V Zhorzholadze 1 collaboration

Jean-Michel Rozet 1 collaboration

Valerio Carelli 1 collaboration

Polina G Tsygankova 1 collaboration

Thomas Klopstock 1 collaboration

Ilka Wittig 1 collaboration

Holger Prokisch 1 collaboration

Amit Mary Philosoph 1 collaboration

Neta Loewenthal 1 collaboration

Miriam Regev 1 collaboration

Hana Poran 1 collaboration

Yael Finezilber 1 collaboration

Meirav Segev 1 collaboration

Michal Berkenstadt 1 collaboration

Hagith Yonath 1 collaboration

Haike Reznik-Wolf 1 collaboration

Yael Gazit 1 collaboration

Lidia V Gabis 1 collaboration

Omer Bar-Yosef 1 collaboration

Efrat Zohar-Dayan 1 collaboration

Omri Nayshool 1 collaboration

Noam Shimshoviz 1 collaboration

Reviva Einy 1 collaboration

Moran Gal 1 collaboration

Julia Grinshpun-Cohen 1 collaboration

Dan Dominissini 1 collaboration

Yuval E Landau 1 collaboration

Aya Shilon 1 collaboration

Yael Levy-Shraga 1 collaboration

Aviv Barzilai 1 collaboration

Shoshana Greenberger 1 collaboration

Oded Shamriz 1 collaboration

Sigal Matza-Porges 1 collaboration

Adir Shaulov 1 collaboration

Zev Davidovics 1 collaboration

Ori Toker 1 collaboration

Abraham Zlotogorski 1 collaboration

Vered Molho-Pessach 1 collaboration

Yuval Tal 1 collaboration