Noam Hadar

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 22

Top Topics

High Fat Diet Induced

Autism Spectrum Disorder

Induced Pluripotent Stem Cells

Top Venues

European journal of human genetics : EJHG

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

Journal of inherited metabolic disease

NPJ genomic medicine

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

Publications

Noam Hadar, Omri Porgador, Elena Ezhkova, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. European journal of human genetics : EJHG (2024)
Noam Hadar, Omri Porgador, Elena Ezhkova, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. European journal of human genetics : EJHG (2024)
Maya Gombosh, Regina Proskorovski-Ohayon, Yuval Yogev, Marina Eskin-Schwartz, Noam Hadar, Sarit Aharoni, Vadim Dolgin, Eugen Cohen, Ohad S Birk
Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway. Journal of medical genetics (2024)
Noam Hadar, Omri Porgador, Elena Ezhkova, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. European journal of human genetics : EJHG 32 (5) (2024)
Noam Hadar, Omri Porgador, Elena Ezhkova, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. European journal of human genetics : EJHG 32 (5) (2024)
Noam Hadar, Omri Porgador, Elena Ezhkova, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. European journal of human genetics : EJHG 32 (5) (2024)
Noam Hadar, Omri Porgador, Elena Ezhkova, Hilla Levi, Vadim Dolgin, Yuval Yogev, Sufa Sued-Hendrickson, Ilan Shelef, Elena Didkovsky, Marina Eskin-Schwartz, Ohad S Birk
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice. European journal of human genetics : EJHG 32 (5) (2024)
Noam Hadar, Grisha Weintraub, Ehud Gudes, Shlomi Dolev, Ohad S Birk
GeniePool: genomic database with corresponding annotated samples based on a cloud data lake architecture. Database : the journal of biological databases and curation 2023 (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)
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)