Concepedia

Author

Si Houn Hahn

University of Washington

Also Known As

Ho Joo Yoon, S H Hahn, S Hahn, S. H. Hahn, S. HAHN, S. Hahn, S.H Hahn, S.H. Hahn, Si H. Hahn, Si Hahn

104

Publications

3.2K

Citations

32

H-Index

86

Concepts

All Affiliations

University of WashingtonSeattle Children's HospitalMayo ClinicAjou UniversityNew York Medical College
SH

About

Si Houn Hahn is an author at University of Washington specializing in medicine, pathology, and genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

18

22

937

2

Natural Sciences

6

6

221

3

Public Health

2

2

86

4

Social Sciences

1

1

31

5

Anatomy

1

1

15

Si Houn Hahn

×

56

Publications

2.7K

Citations

28

H-Index

YearCitations

Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry

Jean M. Lacey, Carla Minutti, Mark J Magera,

Clinical Chemistry

2004

212

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Valeria Tiranti, Pio D’Adamo, Egill Briem,

The American Journal of Human Genetics

2004

201

Connexin26 Mutations Associated With Nonsyndromic Hearing Loss

Hong‐Joon Park, Si Houn Hahn, Young‐Myoung Chun,

The Laryngoscope

2000

200

Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

Carla Minutti, Jean M. Lacey, Mark J Magera,

The Journal of Clinical Endocrinology & Metabolism

2004

150

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

Jong‐Hee Chae, Valeria Vasta, Anna Cho,

Journal of Medical Genetics

2015

114

Next generation sequence analysis for mitochondrial disorders

Valeria Vasta, Sarah Ng, Emily H. Turner,

Genome Medicine

2009

112

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

Eun Kyung Kim, Ook Joon Yoo, Kyu Young Song,

Human Mutation

1998

105

Tryptic Peptide Analysis of Ceruloplasmin in Dried Blood Spots Using Liquid Chromatography–Tandem Mass Spectrometry: Application to Newborn Screening

Amy deWilde, Kateřina Sadílková, Martin Sadı́lek,

Clinical Chemistry

2008

94

Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease

Christopher J. Collins, Fan Yi, Remwilyn Dayuha,

Gastroenterology

2021

79

Next‐generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

Valeria Vasta, J. Lawrence Merritt, Russell P. Saneto,

Pediatrics International

2012

67

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