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Database : the Journal of Biological Databases and Curation
|
December 27, 2024
GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries
Grisha Weintraub, Noam Hadar, Ehud Gudes, et al.
Database : the Journal of Biological Databases and Curation
|
June 13, 2023
GeniePool: genomic database with corresponding annotated samples based on a cloud data lake architecture
Noam Hadar, Grisha Weintraub, Ehud Gudes, et al.
Clinical Genetics
|
June 12, 2023
De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia
Maya Gombosh, Yuval Yogev, Noam Hadar, et al.
European Journal of Human Genetics : EJHG
|
April 13, 2023
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications
Noam Hadar, Ginat Narkis, Shirly Amar, et al.
Immunologic Research
|
July 1, 2022
Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation
Eyal Kristal, Amit Nahum, Galina Ling, et al.
European Thyroid Journal
|
January 4, 2022
TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews
David Shaki, Marina Eskin-Schwartz, Noam Hadar, et al.
Journal of Medical Genetics
|
July 25, 2024
Developmental dysplasia of the hip caused by homozygous <i>TRIM33</i> pathogenic variant affecting downstream BMP pathway
Maya Gombosh, Regina Proskorovski-Ohayon, Yuval Yogev, et al.
European Journal of Human Genetics : EJHG
|
January 4, 2023
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome
Noam Hadar, Ruth Schreiber, Marina Eskin-Schwartz, et al.
Clinical Genetics
|
October 10, 2023
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews
Marina Eskin-Schwartz, Vadim Dolgin, Elena Didkovsky, et al.
European Journal of Human Genetics : EJHG
|
March 3, 2024
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice
Noam Hadar, Omri Porgador, Idan Cohen, et al.
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Search research articles
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Showing results (1-10 of 26) with videos related to
Sort By:
Page
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Database : the Journal of Biological Databases and Curation
|
December 27, 2024
GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries
Grisha Weintraub, Noam Hadar, Ehud Gudes, et al.
Database : the Journal of Biological Databases and Curation
|
June 13, 2023
GeniePool: genomic database with corresponding annotated samples based on a cloud data lake architecture
Noam Hadar, Grisha Weintraub, Ehud Gudes, et al.
Clinical Genetics
|
June 12, 2023
De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia
Maya Gombosh, Yuval Yogev, Noam Hadar, et al.
European Journal of Human Genetics : EJHG
|
April 13, 2023
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications
Noam Hadar, Ginat Narkis, Shirly Amar, et al.
Immunologic Research
|
July 1, 2022
Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation
Eyal Kristal, Amit Nahum, Galina Ling, et al.
European Thyroid Journal
|
January 4, 2022
TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews
David Shaki, Marina Eskin-Schwartz, Noam Hadar, et al.
Journal of Medical Genetics
|
July 25, 2024
Developmental dysplasia of the hip caused by homozygous <i>TRIM33</i> pathogenic variant affecting downstream BMP pathway
Maya Gombosh, Regina Proskorovski-Ohayon, Yuval Yogev, et al.
European Journal of Human Genetics : EJHG
|
January 4, 2023
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome
Noam Hadar, Ruth Schreiber, Marina Eskin-Schwartz, et al.
Clinical Genetics
|
October 10, 2023
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews
Marina Eskin-Schwartz, Vadim Dolgin, Elena Didkovsky, et al.
European Journal of Human Genetics : EJHG
|
March 3, 2024
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice
Noam Hadar, Omri Porgador, Idan Cohen, et al.
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