Concepedia

Laura Davis‐Keppen

LD

6

Publications

263

Citations

6

H-Index

1994

Active since

Affiliations

University of South Dakota(Current)

Pediatrics and Genetics

Joe DiMaggio Children's Hospital

The University of Sydney

University of Toronto

Laura Davis‐Keppen is an author at University of South Dakota specializing in medicine, developmental biology, and neurodevelopmental disorders.

Top concepts

Publications per year

1994–2023

6

Publications

6

Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6

Andrea Masotti, Paolo Uva, Laura Davis‐Keppen et al. · The American Journal of Human Genetics · 2015 · 114 citations · Full text

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Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

Leslie Boghosian-Sell, Reema Mewar, Wilbur R. Harrison et al. · PubMed · 1994 · 55 citations

GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder

Christine Shieh, Natasha Jones, Brigitte Vanle et al. · Genetics in Medicine · 2020 · 33 citations · Full text

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Dmitrijs Rots, Taryn E. Jakub, Crystal Keung et al. · The American Journal of Human Genetics · 2023 · 29 citations · Full text

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221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Kristi Bentler, Shaohui Zhai, Sara A. Elsbecker et al. · Molecular Genetics and Metabolism · 2016 · 21 citations · Full text

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