Author

Karin Weiss

Rambam Health Care CampusORCID 0000-0003-0998-810XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Andrea AccogliiD· 2 shared Anna ChasseventiD· 2 shared Constance L. Smith‐HicksiD· 2 shared Ingrid M. WentzenseniD· 2 shared Laurence Olivier FaivreiD· 2 shared Lynne M. BirdiD· 2 shared Marcello ScalaiD· 2 shared Rolph PfundtiD· 2 shared

Activity by Year

2021-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrea AccogliORCID

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Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedSep 1, 2026

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman…·Hans Tomas Bjornsson

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

2 citations

mousehuman

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Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedOct 24, 2024

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron, Felice D’Arco, Kimberly A. Aldinger…·Cristina Dias

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

23 citationstop 3%

humanstatistical model

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GeneticsBrainPeer-reviewedDec 16, 2021

Determining pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

Jeffrey Dennis Calhoun, Miriam C. Aziz, Hannah C. Happ…·Gemma L. Carvill

The paper identifies a founder variant in SZT2 associated with neurodevelopmental disorder and develops a method to distinguish pathogenic variants from VUSs in SZT2.

11 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintMay 31, 2021

Genomic analyses in a large clinical cohort reveal high prevalence of MECP2 variants associated with neuropsychiatric phenotypes in adulthood

Claudia G. Gonzaga-Jauregui, Alina Kurolap, Lauren Walsh…·Christa Lese Martin

The paper was withdrawn due to lack of full author consent.

DOI 10.1101/2021.05.31.21257498

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