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Arthur L. Beaudet | Researchclopedia

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Arthur L. Beaudet

531

Works

58,023

Citations

123

h-index

379

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Genetic Syndromes and Imprinting

Affiliations

Boston Children's Hospital1978–1978

National Institutes of Health1970–1996

Cleveland Clinic1985–1985

Royal Children's Hospital1993–1993

Hudson Institute2018–2018

Top Works

The NIH Roadmap Epigenomics Mapping Consortium

B Bernstein,J Stamatoyannopoulos,et al.

20102,034 citations

Metabolism and Genetic Disorders

Genomics and Rare Diseases

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang,Donna M. Muzny,et al.

20131,960 citations

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Harry T. Orr,Ming‐Yi Chung,et al.

19931,651 citations

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

Stephan Sanders,Xin He,et al.

20151,527 citations

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Ronald J. Wapner,Alastair J. Martin,et al.

20121,411 citations

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang,Donna M. Muzny,et al.

20141,387 citations

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Stephan Sanders,A. Gulhan Ercan‐Sencicek,et al.

20111,287 citations

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson,Ann M. Flenniken,et al.

20161,279 citations

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Toshinobu Matsuura,James S. Sutcliffe,et al.

1997871 citations