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Leslie G. Biesecker | Researchclopedia

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Leslie G. Biesecker

National Institutes of Health

556

Works

39,273

Citations

103

h-index

328

i10-index

Research Topics

Genomics and Rare Diseases Vascular Malformations and Hemangiomas Genomic variations and chromosomal abnormalities

Affiliations

Broad Institute2020–2020

Henry M. Jackson Foundation2018–2018

Dalhousie University2001–2001

National Institutes of Health1994–2025

University of Leeds2020–2020

Top Works

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

David T. Miller,Margaret P Adam,et al.

20102,855 citations

BRCA gene mutations in cancer

Hedgehog Signaling Pathway Studies

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Robert C. Green,Jonathan S. Berg,et al.

20132,501 citations

Guidelines for investigating causality of sequence variants in human disease

Daniel G. MacArthur,Teri A. Manolio,et al.

20141,268 citations

A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome

Marjorie J. Lindhurst,Julie C. Sapp,et al.

2011880 citations

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Ahmad Abou Tayoun,Tina Pesaran,et al.

2018846 citations

A genomic view of mosaicism and human disease

Leslie G. Biesecker,Nancy B. Spinner

2013615 citations

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Sarah E. Brnich,Ahmad Abou Tayoun,et al.

2019595 citations

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Sean V. Tavtigian,Marc S. Greenblatt,et al.

2018585 citations

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Laura M. Amendola,Gail P. Jarvik,et al.

2016574 citations