Libe Gradstein

Affiliations

Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben-Gurion University, Beer Sheva, Israel.

Publications (18)

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).

Human mutation

Avec: Dror Sharon , Tamar Ben-Yosef , Nitza Goldenberg-Cohen , Eran Pras , Libe Gradstein , Shiri Soudry , Eedy Mezer , Dinah Zur , Anan H Abbasi , Christina Zeitz , Frans P M Cremers , Muhammad I Khan , Jaime Levy , Ygal Rotenstreich , Ohad S Birk , Miriam Ehrenberg , Rina Leibu , Hadas Newman , Noam Shomron , Eyal Banin , Ido Perlman

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.

NPJ genomic medicine

Avec: Ohad Wormser , Yonatan Perez , Vadim Dolgin , Bahman Kamali , Jared A Tangeman , Libe Gradstein , Yuval Yogev , Noam Hadar , Ofek Freund , Max Drabkin , Daniel Halperin , Inbar Irron , Erika Grajales-Esquivel , Katia Del Rio-Tsonis , Ramon Y Birnbaum , Gidon Akler , Ohad S Birk

De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.

Clinical genetics

Avec: Maya Gombosh , Yuval Yogev , Noam Hadar , Regina Proskorovski-Ohayon , Sarit Aharoni , Libe Gradstein , Ohad S Birk

Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.

Investigative ophthalmology & visual science

Avec: Avigail Beryozkin , Ifat Sher , Miriam Ehrenberg , Dinah Zur , Hadas Newman , Libe Gradstein , Francis Simaan , Ygal Rotenstreich , Nitza Goldenberg-Cohen , Irit Bahar , Anat Blumenfeld , Antonio Rivera , Boris Rosin , Iris Deitch-Harel , Ido Perlman , Hadas Mechoulam , Itay Chowers , Rina Leibu , Tamar Ben-Yosef , Eran Pras , Eyal Banin , Dror Sharon , Samer Khateb

[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES].

Harefuah

Avec: Dror Sharon , Tamar Ben-Yosef , Eran Pras , Nitza Goldenberg-Cohen , Libe Gradstein , Noam Shomron , Ohad Birk , Miriam Ehrenberg , Jaime Levy , Eedy Mezer , Shiri Soudry , Ygal Rotenstreich , Hadas Newman , Rina Leibu , Eyal Banin , Ido Perlman

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

European journal of human genetics : EJHG

Avec: Ohad Wormser , Libe Gradstein , Yuval Yogev , Yonatan Perez , Rotem Kadir , Inna Goliand , Yair Sadka , Saad El Riati , Hagit Flusser , Dikla Nachmias , Ruth Birk , Muhamad Iraqi , Einat Kadar , Roni Gat , Max Drabkin , Daniel Halperin , Amir Horev , Sara Sivan , Uri Abdu , Natalie Elia , Ohad S Birk

PSMC1 variant causes a novel neurological syndrome.

Clinical genetics

Avec: Sarit Aharoni , Regina Proskorovski-Ohayon , Ramesh Kumar Krishnan , Yuval Yogev , Ohad Wormser , Noam Hadar , Anna Bakhrat , Ismael Alshafee , Maya Gombosh , Nadav Agam , Libe Gradstein , Zamir Shorer , Raz Zarivach , Marina Eskin-Schwartz , Uri Abdu , Ohad S Birk

Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.

JAMA ophthalmology

Avec: Sapir Shalom , Tamar Ben-Yosef , Ifat Sher , Amir Zag , Ygal Rotenstreich , Tomer Poleg , Ohad S Birk , Libe Gradstein , Miriam Ehrenberg , Iris Deitch , Eedy Mezer , Idan Hecht , Eran Pras , Dan Ramon , Samer Khateb , Dinah Zur , Hadas Newman , Rawan Kharouba , Nitza Goldenberg-Cohen , Rina Leibu , Shiri Soudry , Ido Perlman , Eyal Banin , Dror Sharon

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.

Clinical genetics

Avec: Odeya David , Marina Eskin-Schwartz , Galina Ling , Vadim Dolgin , Eyal Kristal , Ela Benkowitz , Lidia Osyntsov , Libe Gradstein , Ohad S Birk , Neta Loewenthal , Baruch Yerushalmi

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.

Investigative ophthalmology & visual science

Avec: Charlotte C Kruijt , Libe Gradstein , Arthur A Bergen , Ralph J Florijn , Benoit Arveiler , Eulalie Lasseaux , Xavier Zanlonghi , Laura Bagdonaite-Bejarano , Anne B Fulton , Claudia Yahalom , Anat Blumenfeld , Yonatan Perez , Ohad S Birk , Gerard C de Wit , Nicoline E Schalij-Delfos , Maria M van Genderen

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.

Clinical genetics

Avec: Daniel Halperin , Nadav Agam , Maher Hallak , Miora Feinstein , Max Drabkin , Yuval Yogev , Ohad Wormser , Eitan Shavit , Libe Gradstein , Ilan Shelef , Aanalia Mijalovsky , Hagit Flusser , Ohad S Birk

Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.

American journal of medical genetics. Part A

Avec: Ofek Freund , Baker Elsana , Nadav Agam , Matan M Jean , Amit Safran , Tomer Poleg , Nir Roguin , Libe Gradstein , Erez Tsumi , Ohad S Birk

Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families.

Rambam Maimonides medical journal

Avec: Anat Bahat Dinur , Ortal Buchbut , Libe Gradstein , Baker Elsana , Ofek Freund , Ohad S Birk , Erez Tsumi

Journal of medical genetics

Avec: Daniel Halperin , Rotem Kadir , Yonatan Perez , Max Drabkin , Yuval Yogev , Ohad Wormser , Erez M Berman , Ekaterina Eremenko , Barak Rotblat , Zamir Shorer , Libe Gradstein , Ilan Shelef , Ruth Birk , Uri Abdu , Hagit Flusser , Ohad S Birk

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.

American journal of medical genetics. Part A

Avec: Daniel Halperin , Max Drabkin , Ohad Wormser , Yuval Yogev , Vadim Dolgin , Zamir Shorer , Libe Gradstein , Ilan Shelef , Hagit Flusser , Ohad S Birk

Mutations in

Human genome variation

Avec: Raheela Nadeem , Firoz Kabir , Jiali Li , Libe Gradstein , Xiaodong Jiao , Bushra Rauf , Muhammad Asif Naeem , Muhammad Zaman Assir , Sheikh Riazuddin , Radha Ayyagari , J Fielding Hejtmancik , S Amer Riazuddin

Ocular manifestations of congenital insensitivity to pain: a long-term follow-up.

The British journal of ophthalmology

Avec: Baker Elsana , Libe Gradstein , Ahed Imtirat , Ronit Yagev , Chiya Barrett , Galina Ling , Muhammad Abu Tailakh , Amjad Baidousi , Erez Tsumi

Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.

American journal of medical genetics. Part A

Avec: Baker Elsana , Ahed Imtirat , Ronit Yagev , Libe Gradstein , Pierre Majdalani , Oren Iny , Ruti Parvari , Erez Tsumi

Réseau de co-auteurs

Ohad S Birk 13 collaborations

Yuval Yogev 7 collaborations

Ohad Wormser 6 collaborations

Max Drabkin 5 collaborations

Daniel Halperin 5 collaborations

Dror Sharon 4 collaborations

Tamar Ben-Yosef 4 collaborations

Nitza Goldenberg-Cohen 4 collaborations

Eran Pras 4 collaborations

Ygal Rotenstreich 4 collaborations

Miriam Ehrenberg 4 collaborations

Rina Leibu 4 collaborations

Hadas Newman 4 collaborations

Eyal Banin 4 collaborations

Ido Perlman 4 collaborations

Yonatan Perez 4 collaborations

Hagit Flusser 4 collaborations

Baker Elsana 4 collaborations

Erez Tsumi 4 collaborations

Shiri Soudry 3 collaborations

Eedy Mezer 3 collaborations

Dinah Zur 3 collaborations

Vadim Dolgin 3 collaborations

Noam Hadar 3 collaborations

Ofek Freund 3 collaborations

Uri Abdu 3 collaborations

Nadav Agam 3 collaborations

Zamir Shorer 3 collaborations

Ilan Shelef 3 collaborations

Jaime Levy 2 collaborations

Noam Shomron 2 collaborations

Maya Gombosh 2 collaborations

Regina Proskorovski-Ohayon 2 collaborations

Sarit Aharoni 2 collaborations

Ifat Sher 2 collaborations

Anat Blumenfeld 2 collaborations

Samer Khateb 2 collaborations

Rotem Kadir 2 collaborations

Ruth Birk 2 collaborations

Marina Eskin-Schwartz 2 collaborations

Tomer Poleg 2 collaborations

Galina Ling 2 collaborations

Ahed Imtirat 2 collaborations

Ronit Yagev 2 collaborations

Anan H Abbasi 1 collaboration

Christina Zeitz 1 collaboration

Frans P M Cremers 1 collaboration

Muhammad I Khan 1 collaboration

Bahman Kamali 1 collaboration

Jared A Tangeman 1 collaboration

Inbar Irron 1 collaboration

Erika Grajales-Esquivel 1 collaboration

Katia Del Rio-Tsonis 1 collaboration

Ramon Y Birnbaum 1 collaboration

Gidon Akler 1 collaboration

Avigail Beryozkin 1 collaboration

Francis Simaan 1 collaboration

Irit Bahar 1 collaboration

Antonio Rivera 1 collaboration

Boris Rosin 1 collaboration

Iris Deitch-Harel 1 collaboration

Hadas Mechoulam 1 collaboration

Itay Chowers 1 collaboration

Ohad Birk 1 collaboration

Inna Goliand 1 collaboration

Yair Sadka 1 collaboration

Saad El Riati 1 collaboration

Dikla Nachmias 1 collaboration

Muhamad Iraqi 1 collaboration

Einat Kadar 1 collaboration

Roni Gat 1 collaboration

Amir Horev 1 collaboration

Sara Sivan 1 collaboration

Natalie Elia 1 collaboration

Ramesh Kumar Krishnan 1 collaboration

Anna Bakhrat 1 collaboration

Ismael Alshafee 1 collaboration

Raz Zarivach 1 collaboration

Sapir Shalom 1 collaboration

Amir Zag 1 collaboration

Iris Deitch 1 collaboration

Idan Hecht 1 collaboration

Dan Ramon 1 collaboration

Rawan Kharouba 1 collaboration

Odeya David 1 collaboration

Eyal Kristal 1 collaboration

Ela Benkowitz 1 collaboration

Lidia Osyntsov 1 collaboration

Neta Loewenthal 1 collaboration

Baruch Yerushalmi 1 collaboration

Charlotte C Kruijt 1 collaboration

Arthur A Bergen 1 collaboration

Ralph J Florijn 1 collaboration

Benoit Arveiler 1 collaboration

Eulalie Lasseaux 1 collaboration

Xavier Zanlonghi 1 collaboration

Laura Bagdonaite-Bejarano 1 collaboration

Anne B Fulton 1 collaboration

Claudia Yahalom 1 collaboration

Gerard C de Wit 1 collaboration

Nicoline E Schalij-Delfos 1 collaboration

Maria M van Genderen 1 collaboration

Maher Hallak 1 collaboration

Miora Feinstein 1 collaboration

Eitan Shavit 1 collaboration

Aanalia Mijalovsky 1 collaboration

Matan M Jean 1 collaboration

Amit Safran 1 collaboration

Nir Roguin 1 collaboration

Anat Bahat Dinur 1 collaboration

Ortal Buchbut 1 collaboration

Erez M Berman 1 collaboration

Ekaterina Eremenko 1 collaboration

Barak Rotblat 1 collaboration

Raheela Nadeem 1 collaboration

Firoz Kabir 1 collaboration

Jiali Li 1 collaboration

Xiaodong Jiao 1 collaboration

Bushra Rauf 1 collaboration

Muhammad Asif Naeem 1 collaboration

Muhammad Zaman Assir 1 collaboration

Sheikh Riazuddin 1 collaboration

Radha Ayyagari 1 collaboration

J Fielding Hejtmancik 1 collaboration

S Amer Riazuddin 1 collaboration

Chiya Barrett 1 collaboration

Muhammad Abu Tailakh 1 collaboration

Amjad Baidousi 1 collaboration

Pierre Majdalani 1 collaboration

Oren Iny 1 collaboration

Ruti Parvari 1 collaboration