Concepedia

Sihoun Hahn

SH

Statistics

Publications

26

Citations

1.3K

H-Index

18

Active since

2000

Affiliations

Baylor College of Medicine(Current)

Harvard University

Boston Children's Hospital

University of Washington

Seattle Children's Hospital

Sihoun Hahn is an author at Baylor College of Medicine specializing in life sciences, genetics, and molecular genetics.

Publications per year

2000–2024

26

Publications

26

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

, , +12

A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

Regina Ensenauer, Jerry Vockley, Jan-Marie Willard et al. · The American Journal of Human Genetics · 2004 · 167 citations · Full text

, , +13

Novel mutations in <i>ATP1A3</i> associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

Alex R. Paciorkowski, Sharon S. McDaniel, Laura A. Jansen et al. · Epilepsia · 2015 · 121 citations · Full text

, , +16

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Alban Ziegler, Carrie Koval‐Burt, Denise M. Kay et al. · JAMA · 2024 · 103 citations · Full text

, , +17

Prevalence of <i>ALDH7A1</i> mutations in 18 North American pyridoxine‐dependent seizure (PDS) patients

Craig L. Bennett, Yingzhang Chen, Sihoun Hahn et al. · Epilepsia · 2008 · 77 citations

, , +13

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