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Susan Schelley | Researchclopedia

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Susan Schelley

Stanford Health Care ORCID

30

Works

2,830

Citations

21

h-index

24

i10-index

Research Topics

Genomics and Rare Diseases Mitochondrial Function and Pathology Genomic variations and chromosomal abnormalities

Affiliations

Lucile Packard Children's Hospital2014–2016

Stanford Health Care2025–2025

Children's Health Council2025–2025

Stanford Medicine1993–2016

Pediatrics and Genetics2004–2005

Top Works

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)

Carol J. Gallione,Gabriela M. Repetto,et al.

2004745 citations

Genetics and Neurodevelopmental Disorders

Metabolism and Genetic Disorders

Mutations of <i>ARX</i> are associated with striking pleiotropy and consistent genotype–phenotype correlation

Mitsuhiro Kato,Soma Das,et al.

2004327 citations

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

Ruth M. Baxter,Valerie A. Arboleda,et al.

2014231 citations

Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome

Karen M. Lower,Gillian Turner,et al.

2002216 citations

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Seema R. Lalani,Pengfei Liu,et al.

2016141 citations

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Christiane Zweier,Christian T. Thiel,et al.

2005137 citations

Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families

R Hughes-Benzie,Giuseppe Pilia,et al.

1996136 citations

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Slavé Petrovski,Sébastien Küry,et al.

2016117 citations

Clinical features and management issues in Mowat–Wilson syndrome

Margaret P Adam,Susan Schelley,et al.

2006112 citations