Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Karen E. Wain | Researchclopedia

Back to researchers

Karen E. Wain

Geisinger Medical Center ORCID

47

Works

1,153

Citations

20

h-index

26

i10-index

Research Topics

Genomics and Rare Diseases BRCA gene mutations in cancer Genomic variations and chromosomal abnormalities

Affiliations

GenVec2023–2023

Geisinger Medical Center2018–2025

Mayo Clinic2009–2014

University of Michigan–Ann Arbor2009–2009

Autism & Developmental Medicine Institute2018–2022

Top Works

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen,Yuanyuan Liu,et al.

2021140 citations

Ethics in Clinical Research

Genetics and Neurodevelopmental Disorders

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

Andrés Moreno-De-Luca,Francisca Millan,et al.

2021119 citations

Chromosomal microarray impacts clinical management

Erin Rooney Riggs,Karen E. Wain,et al.

201390 citations

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review

Karen E. Wain,Marissa S. Ellingson,et al.

201476 citations

Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population

Alastair J. Martin,Karen E. Wain,et al.

202071 citations

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Darrel Waggoner,Karen E. Wain,et al.

201870 citations

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Kelly E. Ormond,Miranda L. G. Hallquist,et al.

201853 citations

Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the <scp>Geisinger MyCode</scp> research project

Melissa Kelly,Joseph B. Leader,et al.

202147 citations

ClinGen's GenomeConnect registry enables patient‐centered data sharing

Juliann M. Savatt,Danielle R. Azzariti,et al.

201841 citations