World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
114
Citations
46387
World Ranking
470
National Ranking
241

Medicine

D-Index
114
Citations
47168
World Ranking
4745
National Ranking
2571

Research.com Recognitions

  • 2016 - Member of the National Academy of Medicine (NAM)
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians

Overview

Leslie G. Biesecker is affiliated with the National Institutes of Health in the United States. Their research primarily focuses on fields including Biochemistry, Genetics and Molecular Biology, and Medicine, with a specific emphasis on Genetics and Molecular Biology as key subfields. Their work encompasses topics such as Genomics and Rare Diseases, Vascular Malformations and Hemangiomas, Genomic variations and chromosomal abnormalities, BRCA gene mutations in cancer, Cancer Genomics and Diagnostics, Genetic factors in colorectal cancer, and Genetic Associations and Epidemiology.

They have contributed extensively to academic literature, publishing in several well-known venues. Frequent publication sources include Genetics in Medicine, The American Journal of Human Genetics, bioRxiv (Cold Spring Harbor Laboratory), UNC Libraries, and American Journal of Medical Genetics Part A.

Some of the recent papers featuring Leslie G. Biesecker are:

  • Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria (2022, The American Journal of Human Genetics)
  • Strategic vision for improving human health at The Forefront of Genomics (2020, Nature)
  • Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines (2020, Human Mutation)
  • Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup (2023, The American Journal of Human Genetics)
  • Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries (2022, Nature Genetics)

Throughout their career, Leslie G. Biesecker has collaborated frequently with notable coauthors including Jennifer J. Johnston, Katie L. Lewis, Heidi L. Rehm, Julie C. Sapp, and Jonathan S. Berg.

The scientist has been recognized with membership awards such as being a Member of the National Academy of Medicine in 2016 and a Member of the Association of American Physicians.

Best Publications

  • 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;Margaret P. Adam;Swaroop Aradhya;Leslie G. Biesecker

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

    Robert C. Green;Robert C. Green;Jonathan S. Berg;Wayne W. Grody;Sarah S. Kalia

  • Guidelines for investigating causality of sequence variants in human disease

    D G MacArthur;T A Manolio;D P Dimmock;H L Rehm

  • A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

    Marjorie J Lindhurst;Julie C Sapp;Jamie K. Teer;Jennifer J Johnston

  • Diagnostic Clinical Genome and Exome Sequencing

    Leslie G. Biesecker;Robert C. Green

  • GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.

    Seongman Kang;John M. Graham;Ann Haskins Olney;Leslie G. Biesecker

  • A genomic view of mosaicism and human disease

    Leslie G. Biesecker;Nancy B. Spinner

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

    Ahmad N. Abou Tayoun;Ahmad N. Abou Tayoun;Tina Pesaran;Marina T. DiStefano;Andrea Oza

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

    Laura M. Amendola;Gail P. Jarvik;Michael C. Leo;Heather M. McLaughlin

  • Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

    Leslie G. Biesecker;Rudolf Happle;John B. Mulliken;Rosanna Weksberg

  • PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

    Kim M. Keppler-Noreuil;Jonathan J. Rios;Victoria E.R. Parker;Robert K. Semple

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

    Sean V. Tavtigian;Marc S. Greenblatt;Steven M. Harrison;Robert L. Nussbaum

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

    Sarah E. Brnich;Ahmad N. Abou Tayoun;Fergus J. Couch;Garry R. Cutting

  • Actionable exomic incidental findings in 6503 participants: challenges of variant classification

    Laura M. Amendola;Michael O. Dorschner;Peggy D. Robertson;Joseph S. Salama

  • Ethical and practical guidelines for reporting genetic research results to study participants: Updated guidelines from a national heart, lung, and blood institute working group

    Richard R. Fabsitz;Amy McGuire;Richard R. Sharp;Mona Puggal

  • Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.

    Jonathan J Lyons;Xiaomin Yu;Jason D Hughes;Quang T Le

  • A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

    Jie Liu;Deborah Litman;Marjorie J. Rosenberg;Shuhua Yu

  • A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1

    Jennifer J. Johnston;Richard Ian Kelley;Richard Ian Kelley;Thomas O. Crawford;D. Holmes Morton

  • Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

    David Ng;Nalin Thakker;Connie M Corcoran;Dian Donnai

  • Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

    Santhosh Girirajan;Megan Y. Dennis;Carl Baker;Maika Malig

Frequent Co-Authors

Barbara B. Biesecker
Barbara B. Biesecker RTI International
Heidi L. Rehm
Heidi L. Rehm Brigham and Women's Hospital
Robert C. Green
Robert C. Green Brigham and Women's Hospital
James C. Mullikin
James C. Mullikin National Institutes of Health
Raoul C.M. Hennekam
Raoul C.M. Hennekam University of Amsterdam
John M. Graham
John M. Graham Cedars-Sinai Medical Center
William M. P. Klein
William M. P. Klein National Institutes of Health
Jonathan S. Berg
Jonathan S. Berg University of North Carolina at Chapel Hill
Alejandro A. Schäffer
Alejandro A. Schäffer National Institutes of Health
Graeme C.M. Black
Graeme C.M. Black University of Manchester

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