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TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews

European thyroid journal, 2022-02, Vol.11 (1), p.1-6

2022

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

Npj genomic medicine, 2023-08, Vol.8 (1), p.22-22, Article 22

2023

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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, 2023-07, Vol.31 (7), p.738-743

2023

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Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway

Journal of medical genetics, 2024-07, p.jmg-2024-109928

2024

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Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice

European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.550-557

2024

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X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome

European journal of human genetics : EJHG, 2023-10, Vol.31 (10), p.1101-1107

2023

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Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone

Proceedings of the National Academy of Sciences - PNAS, 2023-02, Vol.120 (7), p.e2217831120

2023

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Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation

Immunologic research, 2022-12, Vol.70 (6), p.775-780

2022

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ZNF142 mutation causes sex-dependent neurologic disorder

Journal of medical genetics, 2024-06, Vol.61 (6), p.566-577

2024

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GeniePool: genomic database with corresponding annotated samples based on a cloud data lake architecture

Database : the journal of biological databases and curation, 2023-06, Vol.2023

2023

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De‐novo “germline second hit” loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia

Clinical genetics, 2023-11, Vol.104 (5), p.571-576

2023

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CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews

Clinical genetics, 2024-01, Vol.105 (1), p.44-51

2024

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VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19

Human genetics, 2024-05, Vol.143 (5), p.695-701

2024

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PSMC1 variant causes a novel neurological syndrome

Clinical genetics, 2022-10, Vol.102 (4), p.324-332

2022

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Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation

Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.744-755

2023

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B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

Clinical genetics, 2020-06, Vol.97 (6), p.920-926

2020

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Analyzing large-scale genomic data with cloud data lakes

Proceedings of the 16th ACM International Conference on Systems and Storage, 2023, p.142-142

2023

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Recycling of Spent Mushroom Substrate （SMS） in Avocado Orchards

农业科学与技术：B, 2012, Vol.2 (11), p.1165-1170

Ofer Danai Hadar Cohen Nirit Ezov Noam Yehieli Dan Levanon

2012

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Onset, duration and unresolved symptoms, including smell and taste changes, in mild COVID-19 infection: a cohort study in Israeli patients

Clinical microbiology and infection, 2021-05, Vol.27 (5), p.769-774

2021

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Alleviation of ADHD symptoms by non-invasive right prefrontal stimulation is correlated with EEG activity

NeuroImage clinical, 2020-01, Vol.26, p.102206-102206, Article 102206

2020

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Post-phagocytosis activation of NLRP3 inflammasome by two novel T6SS effectors

eLife, 2022-09, Vol.11

2022

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pH‐Responsive Pillar[6]arene‐based Water‐Soluble Supramolecular Hexagonal Boxes

Angewandte Chemie International Edition, 2019-04, Vol.58 (16), p.5302-5306

International ed. in English, 2019

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Small animal brain surgery with neither a brain atlas nor a stereotaxic frame

Journal of neuroscience methods, 2024-11, Vol.411, p.110272, Article 110272

2024

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Fostering positive attitudes toward food in individuals with restrained eating: the impact of flexible food-related inhibition

Journal of eating disorders, 2024-03, Vol.12 (1), p.41-41, Article 41

2024

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Uncertain prelabor rupture of membranes at term and associated delivery outcomes

International journal of gynecology and obstetrics, 2024-06

2024

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TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews

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

STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications

Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway

Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice

X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome

Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone

Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation

ZNF142 mutation causes sex-dependent neurologic disorder

GeniePool: genomic database with corresponding annotated samples based on a cloud data lake architecture

De‐novo “germline second hit” loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia

CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews

VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19

PSMC1 variant causes a novel neurological syndrome

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation

B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

Analyzing large-scale genomic data with cloud data lakes

Recycling of Spent Mushroom Substrate （SMS） in Avocado Orchards

Onset, duration and unresolved symptoms, including smell and taste changes, in mild COVID-19 infection: a cohort study in Israeli patients

Alleviation of ADHD symptoms by non-invasive right prefrontal stimulation is correlated with EEG activity

Post-phagocytosis activation of NLRP3 inflammasome by two novel T6SS effectors

pH‐Responsive Pillar[6]arene‐based Water‐Soluble Supramolecular Hexagonal Boxes

Small animal brain surgery with neither a brain atlas nor a stereotaxic frame

Fostering positive attitudes toward food in individuals with restrained eating: the impact of flexible food-related inhibition

Uncertain prelabor rupture of membranes at term and associated delivery outcomes

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