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Ohad S Birk (O S Birk)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 29

Top Venues

Proceedings of the National Academy of Sciences of the United States of America

American journal of medical genetics. Part A

European journal of human genetics : EJHG

Journal of inherited metabolic disease

Ben-Gurion University of the Negev

Tel Aviv University (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Ben-Gurion University of the Negev

Israel

Head, National Research Center for Rare / Orphan Diseases

Education History

Tel Aviv University

Israel

PHD

Publications

Yuval Yogev, Zamir Shorer, Arie Koifman, Ohad Wormser, Max Drabkin, Daniel Halperin, Vadim Dolgin, Regina Proskorovski-Ohayon, Noam Hadar, Geula Davidov, Hila Nudelman, Raz Zarivach, Ilan Shelef, Yonatan Perez, Ohad S Birk
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. Proceedings of the National Academy of Sciences of the United States of America 120 (7) (2023)
Tomer Poleg, Marina Eskin-Schwartz, Regina Proskorovski-Ohayon, Ilana Aminov, Vadim Dolgin, Nadav Agam, Matan Jean, Amit Safran, Ofek Freund, Aviva Levitas, Yuval Konstantino, Ohad S Birk, Roi Westreich, Moti Haim
Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy. Journal of cardiovascular translational research (2023)
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
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma. NPJ genomic medicine 8 (1) (2023)
Noam Hadar, Ginat Narkis, Shirly Amar, Marina Varnavsky, Glenda Calniquer Palti, Amit Safran, Ohad S Birk
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications. European journal of human genetics : EJHG (2023)
Yuval Yogev, Zamir Shorer, Arie Koifman, Ohad Wormser, Max Drabkin, Daniel Halperin, Vadim Dolgin, Regina Proskorovski-Ohayon, Noam Hadar, Geula Davidov, Hila Nudelman, Raz Zarivach, Ilan Shelef, Yonatan Perez, Ohad S Birk
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. Proceedings of the National Academy of Sciences of the United States of America 120 (7) (2023)
Noam Hadar, Ruth Schreiber, Marina Eskin-Schwartz, Eyal Kristal, George Shubinsky, Galina Ling, Elena Ezhkova, Michael Geylis, Amit Nahum, Yuval Yogev, Ohad S Birk
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome. European journal of human genetics : EJHG (2023)
Yuval Yogev, Zamir Shorer, Arie Koifman, Ohad Wormser, Max Drabkin, Daniel Halperin, Vadim Dolgin, Regina Proskorovski-Ohayon, Noam Hadar, Geula Davidov, Hila Nudelman, Raz Zarivach, Ilan Shelef, Yonatan Perez, Ohad S Birk
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. Proceedings of the National Academy of Sciences of the United States of America 120 (7) (2023)
Yuval Yogev, Zamir Shorer, Arie Koifman, Ohad Wormser, Max Drabkin, Daniel Halperin, Vadim Dolgin, Regina Proskorovski-Ohayon, Noam Hadar, Geula Davidov, Hila Nudelman, Raz Zarivach, Ilan Shelef, Yonatan Perez, Ohad S Birk
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. Proceedings of the National Academy of Sciences of the United States of America 120 (7) (2023)
Yuval Yogev, Zamir Shorer, Arie Koifman, Ohad Wormser, Max Drabkin, Daniel Halperin, Vadim Dolgin, Regina Proskorovski-Ohayon, Noam Hadar, Geula Davidov, Hila Nudelman, Raz Zarivach, Ilan Shelef, Yonatan Perez, Ohad S Birk
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. Proceedings of the National Academy of Sciences of the United States of America 120 (7) (2023)
Amit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Yuval Yogev, Max Drabkin, Ekaterina Eremenko, Sarit Aharoni, Ofek Freund, Matan M Jean, Nadav Agam, Noam Hadar, Neta Loewenthal, Orna Staretz-Chacham, Ohad S Birk
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation. Journal of inherited metabolic disease (2023)
Yuval Yogev, Zamir Shorer, Arie Koifman, Ohad Wormser, Max Drabkin, Daniel Halperin, Vadim Dolgin, Regina Proskorovski-Ohayon, Noam Hadar, Geula Davidov, Hila Nudelman, Raz Zarivach, Ilan Shelef, Yonatan Perez, Ohad S Birk
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. Proceedings of the National Academy of Sciences of the United States of America 120 (7) (2023)
Amit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Yuval Yogev, Max Drabkin, Ekaterina Eremenko, Sarit Aharoni, Ofek Freund, Matan M Jean, Nadav Agam, Noam Hadar, Neta Loewenthal, Orna Staretz-Chacham, Ohad S Birk
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation. Journal of inherited metabolic disease (2023)
Noam Hadar, Ruth Schreiber, Marina Eskin-Schwartz, Eyal Kristal, George Shubinsky, Galina Ling, Elena Ezhkova, Michael Geylis, Amit Nahum, Yuval Yogev, Ohad S Birk
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome. European journal of human genetics : EJHG (2023)
Yuval Yogev, Zamir Shorer, Arie Koifman, Ohad Wormser, Max Drabkin, Daniel Halperin, Vadim Dolgin, Regina Proskorovski-Ohayon, Noam Hadar, Geula Davidov, Hila Nudelman, Raz Zarivach, Ilan Shelef, Yonatan Perez, Ohad S Birk
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. Proceedings of the National Academy of Sciences of the United States of America 120 (7) (2023)
Amit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Yuval Yogev, Max Drabkin, Ekaterina Eremenko, Sarit Aharoni, Ofek Freund, Matan M Jean, Nadav Agam, Noam Hadar, Neta Loewenthal, Orna Staretz-Chacham, Ohad S Birk
Hyperinsulinism / hyperammonemia syndrome caused by biallelic SLC25A36 mutation. Journal of inherited metabolic disease (2023)
Ofek Freund, Baker Elsana, Nadav Agam, Matan M Jean, Amit Safran, Tomer Poleg, Nir Roguin, Libe Gradstein, Erez Tsumi, 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 (2023)
Yuval Yogev, Jacob Bistritzer, Yair Sadaka, Analia Michaelovsky, Yuval Cavari, Yael Feinstein, Munir Abu-Madegem, Yakov Fellig, Ohad Wormser, Max Drabkin, Daniel Halperin, Ohad S Birk
Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy. Molecular diagnosis & therapy 26 (5) (2022)
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
PSMC1 variant causes a novel neurological syndrome. Clinical genetics 102 (4) (2022)
Avivit Brener, Leonid Zeitlin, Yael Wilnai, Ohad S Birk, Talya Rosenfeld, Efrat Chorna, Yael Lebenthal
Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations. Acta diabetologica 59 (5) (2022)
Daniel Halperin, Alexandra Stavsky, R Kadir, Max Drabkin, Ohad Wormser, Yuval Yogev, V Dolgin, Regina Proskorovski-Ohayon, Yonatan Perez, H Nudelman, O Stoler, Barak Rotblat, T Lifschytz, Amit Lotan, G Meiri, Daniel Gitler, Ohad S Birk
CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice. Nature communications 12 (1) (2021)
Daniel Halperin, Max Drabkin, Ohad Wormser, Yuval Yogev, Vadim Dolgin, Zamir Shorer, Libe Gradstein, Ilan Shelef, Hagit Flusser, Ohad S Birk
Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome. American journal of medical genetics. Part A 182 (6) (2020)
Orna Staretz-Chacham, Ohad Wormser, Esther Manor, Ohad S Birk, Carlos R Ferreira
TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation. American journal of medical genetics. Part A 179 (7) (2019)
Vadim Dolgin, Rachel Straussberg, Ruijuan Xu, Izolda Mileva, Yuval Yogev, Raed Khoury, Osnat Konen, Yael Barhum, Alex Zvulunov, Cungui Mao, Ohad S Birk
DEGS1 variant causes neurological disorder. European journal of human genetics : EJHG 27 (11) (2019)
Dror Sharon, Tamar Ben-Yosef, Gokhan Gurelik, Eran Pras, Libe Gradstein, Shiri Soudry, Mezer Eedy, 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
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). Human mutation 41 (1) (2019)
Max Drabkin, Ohad S Birk, Ruth Birk
Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred. BMC medical genetics 19 (1) (2018)
Ohad Wormser, Libe Gradstein, Einat Kadar, Yuval Yogev, Yonatan Perez, Elena Mashkit, Khalil Elbedour, Max Drabkin, Barak Markus, Rotem Kadir, Daniel Halperin, Soltan Khalaila, Jaime Levy, Tova Lifshitz, Esther Manor, Ohad S Birk
Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe. American journal of medical genetics. Part A 176 (12) (2018)
Idan Cohen, Orna Staretz-Chacham, Ohad Wormser, Yonatan Perez, Ann Saada, Rotem Kadir, Ohad S Birk
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. American journal of medical genetics. Part A 176 (2) (2017)
Yonatan Perez, Ohad Wormser, Yair Sadaka, Ruth Birk, Ginat Narkis, Ohad S Birk
A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers. BioMed research international 2017 (2017)
Regina Proskorovski-Ohayon, Rotem Kadir, Analia Michalowski, Hagit Flusser, Yonatan Perez, Eli Hershkovitz, Sara Sivan, Ohad S Birk
PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay. Human mutation 38 (12) (2017)

Ohad S Birk.css-eqlu8i{font-size:small;padding-left:4px;} (O S Birk)

Publication Activity (10 Years)

Top Topics

Top Venues

Ohad S Birk (O S Birk)