Concepedia

Shuwen Huang

SH

40

Publications

3.5K

Citations

24

H-Index

2005

Active since

Affiliations

Wessex Regional Genetics Laboratory(Current)

Salisbury District Hospital

Salisbury NHS Foundation Trust

South China Agricultural University

Princess Anne Hospital

Shuwen Huang is an author at Wessex Regional Genetics Laboratory specializing in genetics, medicine, and molecular genetics.

Top concepts

Publications per year

2005–2023

40

Publications

40

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 803 citations · Full text

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Erin B. Kaminsky, Vineith Kaul, Justin Paschall et al. · Genetics in Medicine · 2011 · 444 citations · Full text

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Bregje W.M. van Bon, Heather C. Mefford, Björn Menten et al. · Journal of Medical Genetics · 2009 · 366 citations · Full text

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Daniel Moreno‐De‐Luca, Jennifer G. Mullé, Erin B. Kaminsky et al. · The American Journal of Human Genetics · 2010 · 331 citations · Full text

SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

Daniel Kelberman, Sandra C. de Castro, Shuwen Huang et al. · The Journal of Clinical Endocrinology & Metabolism · 2008 · 179 citations · Full text

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