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Author Details

Moriel Singer-Berk
2017
19
8
PMIDPaper TitleJournal TitlePublished Year
38057443Inferring compound heterozygosity from large-scale exome sequencing data.Nat Genet2024
36993580Inferring compound heterozygosity from large-scale exome sequencing data.bioRxiv2023
37808847Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features.medRxiv2023
37633279Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.Am J Hum Genet2023
37873196Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.medRxiv2023
37463579Phenotype and genetic analysis of data collected within the first year of NeuroDev.Neuron2023
37205491The landscape of tolerated genetic variation in humans and primates.bioRxiv2023
37262156The landscape of tolerated genetic variation in humans and primates.Science2023
36945502Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.medRxiv2023
36473599Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.Genet Med2023
35850704Recommendations for clinical interpretation of variants found in non-coding regions of the genome.Genome Med2022
34373650Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
33536625Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
34108472Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.Nat Commun2021
33276309A novel DDB2 mutation causes defective recognition of UV-induced DNA damages and prevalent equine squamous cell carcinoma.DNA Repair (Amst)2021
32461654The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2020
31637255Additional Evidence for <i>DDB2</i> T338M as a Genetic Risk Factor for Ocular Squamous Cell Carcinoma in Horses.Int J Genomics2019
29999543Genetic risk for squamous cell carcinoma of the nictitating membrane parallels that of the limbus in Haflinger horses.Animal Genetics2018
28425625A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses.International Journal of Cancer2017
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Samantha Baxter
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