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Karynne Patterson | Researchclopedia

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Karynne Patterson

University of Washington ORCID

42

Works

5,503

Citations

19

h-index

21

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Cancer Genomics and Diagnostics

Affiliations

Broad Institute2023–2023

Boston Children's Hospital2023–2023

Harvard University2023–2023

University of Washington2014–2025

Massachusetts General Hospital2023–2023

Top Works

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov,Brian J. O’Roak,et al.

20142,754 citations

Genetic Associations and Epidemiology

Genetic Syndromes and Imprinting

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Jessica X. Chong,Kati J. Buckingham,et al.

2015685 citations

Genomic data in the All of Us Research Program

Manuscript Writing Group,Alexander G. Bick,et al.

2024657 citations

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller,Arvis Sulovari,et al.

2021231 citations

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong,Margaret J. McMillin,et al.

2015157 citations

Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model

Seung‐been Lee,Marsha M. Wheeler,et al.

2018143 citations

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

Jessica X. Chong,Joon‐Ho Yu,et al.

2015115 citations

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer,Juha M. Kerätär,et al.

2016103 citations

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

Jonas A. Gustafson,Sophia B Gibson,et al.

202467 citations