Author

Karen E. Wain

Autism & Developmental Medicine InstituteORCID 0000-0002-3711-7670Unclaimed 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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Approach:statistical model· 4 Research Focus:benchmarking· 2 Research Focus:differential expression· 2 Organism:human· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Adam H. BuchananiD· 2 shared Curtis R. CoughliniD· 2 shared Eric P. TricouiD· 2 shared Holly Landrum PeayiD· 2 shared Kelly E. OrmondiD· 2 shared Maia J. Borensztein· 2 shared Maureen E. SmithiD· 2 shared Miranda L. G. HallquistiD· 2 shared

Activity by Year

2021-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Adam H. BuchananORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedJun 12, 2023

Defining the Critical Educational Components of Informed Consent for Genetic Testing: Views of US-Based Genetic Counselors and Medical Geneticists

Miranda L. G. Hallquist, Maia J. Borensztein, Curtis R. Coughlin…·Kelly E. Ormond

The paper surveys genetic professionals on the sufficiency of core informed consent concepts for genetic testing, finding high agreement on their adequacy for informed decision-making.

7 citations

statistical modelbenchmark study

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Genetic & Genomic MedicinemedRxivPreprintAug 11, 2022

Race- and sex-specific disease trajectory in individuals with rare variants in seven cerebrovascular small vessel disease genes: a genotype-first population study

Jiang Li, Vida Abedi, Durgesh Prasad Chaudhary…·Ramin Zand

This study identifies race- and sex-specific increased risks of cerebrovascular and circulatory diseases in carriers of seven monogenic CSVD risk genes using a genotype-first approach in a large biobank cohort.

DOI 10.1101/2022.08.11.22278284

humanwhole-exome sequencing

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GeneticsJournal of Medical GeneticsPeer-reviewedDec 15, 2021

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Audrey Schalk, Margot A. Cousin, Thomas D. Challman…·Bénédicte Gérard

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

32 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineJournal of Personalized MedicinePeer-reviewedDec 5, 2021

Defining the Critical Components of Informed Consent for Genetic Testing: A Delphi Study

Kelly E. Ormond, Maia J. Borensztein, Miranda L. G. Hallquist…·Curtis R. Coughlin

This study identifies core concepts essential for informed consent in genetic testing through a Delphi process involving experts in genetics and bioethics.

45 citations

statistical modelbenchmarking

𝕏 PostBluesky