Skip to Main Content

Author Details

Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
1987
412
82
PMIDPaper TitleJournal TitlePublished Year
36356050Future-oriented Emotions and Decisions to Receive Genomic Testing Results Among U.S. Adults of African Ancestry.Ann Behav Med2023
36356050Future-oriented Emotions and Decisions to Receive Genomic Testing Results Among U.S. Adults of African Ancestry.Ann Behav Med2023
38026202Derived myeloid lineage induced pluripotent stem as a platform to study human C-C chemokine receptor type 5ο32 homozygotes.iScience2023
37435845Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.Am J Med Genet A2023
36608682Genotype first: Clinical genomics research through a reverse phenotyping approach.Am J Hum Genet2023
37544304Genetic Testing and Other Healthcare Use by Black and White Individuals in a Genomic Sequencing Study.Public Health Genomics2023
38026202Derived myeloid lineage induced pluripotent stem as a platform to study human C-C chemokine receptor type 5ο32 homozygotes.iScience2023
37544304Genetic Testing and Other Healthcare Use by Black and White Individuals in a Genomic Sequencing Study.Public Health Genomics2023
37435845Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.Am J Med Genet A2023
36608682Genotype first: Clinical genomics research through a reverse phenotyping approach.Am J Hum Genet2023
34240408A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.Clin Genet2022
35849058Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.Hum Mol Genet2022
35461279Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome.Orphanet J Rare Dis2022
35839129Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.Ann Am Thorac Soc2022
35835913Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.Nat Genet2022
35441778Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.Am J Med Genet A2022
35753512Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.J Allergy Clin Immunol2022
36062894Elements of morphology: Standard terminology for the trunk and limbs.Am J Med Genet A2022
34240408A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.Clin Genet2022
34803162Invited Commentary on "My Research Results: a program to facilitate return of clinically actionable genomic research findings" by Willis et al.Eur J Hum Genet2022
34906458The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.Genet Med2022
34955381Evaluating the impact of in silico predictors on clinical variant classification.Genet Med2022
34480685The role of future-oriented affect in engagement with genomic testing results.J Behav Med2022
35441778Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.Am J Med Genet A2022
35839129Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.Ann Am Thorac Soc2022
35835913Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.Nat Genet2022
35461279Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome.Orphanet J Rare Dis2022
35753512Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.J Allergy Clin Immunol2022
35849058Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.Hum Mol Genet2022
36062894Elements of morphology: Standard terminology for the trunk and limbs.Am J Med Genet A2022
34906458The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.Genet Med2022
34955381Evaluating the impact of in silico predictors on clinical variant classification.Genet Med2022
34803162Invited Commentary on "My Research Results: a program to facilitate return of clinically actionable genomic research findings" by Willis et al.Eur J Hum Genet2022
34480685The role of future-oriented affect in engagement with genomic testing results.J Behav Med2022
32870266Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.J Clin Endocrinol Metab2021
32035943Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.J Am Acad Dermatol2021
33812672Correspondence on: "Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features".Atherosclerosis2021
33753828Cardiothoracic imaging findings of Proteus syndrome.Sci Rep2021
34059901Ethical, legal and social implications of human genome studies in radiation research: a workshop report for studies on atomic bomb survivors at the Radiation Effects Research Foundation.J Radiat Res2021
33790423DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
33676403SomatoSim: precision simulation of somatic single nucleotide variants.BMC Bioinformatics2021
33887195Engagement and return of results preferences among a primarily African American genomic sequencing research cohort.Am J Hum Genet2021
34105192Dermatologic findings in individuals with genetically confirmed Proteus syndrome.Pediatr Dermatol2021
33567470An open-source python library for detection of known and novel Kell, Duffy and Kidd variants from exome sequencing.Vox Sang2021
33832433Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach.BMC Bioinformatics2021
34040190Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.Genet Med2021
33987754Dyadic concordance and associations of beliefs with intentions to learn carrier results from genomic sequencing.J Behav Med2021
33876469Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African-American cohort.J Genet Couns2021
33767344Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.Genet Med2021
33719903Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.Ophthalmic Genet2021
  • 1 - 50 of 824

Recommended Authors

Eleanor G Seaby
University of Southampton
Career Start Year 2014
Number of shared co-authors 20
Carolyn D Applegate
Johns Hopkins University School of Medicine
Career Start Year 2012
Number of shared co-authors 21
Jessica X Chong
Brotman Baty Institute for Precision Medicine, University of Washington
Career Start Year 2011
Number of shared co-authors 54
Saumya Shekhar Jamuar
Pediatric Academic Clinical Programme, Duke-NUS Medical School
Career Start Year 2010
Number of shared co-authors 23
Ahmet Okay Caglayan
Yale School of Medicine
Career Start Year 2007
Number of shared co-authors 9
Richard H Scott
Great Ormond Street Hospital
Career Start Year 2006
Number of shared co-authors 46
Bryn D Webb
Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison
Career Start Year 2006
Number of shared co-authors 14
Gareth Baynam
King Edward Memorial Hospital
Career Start Year 2006
Number of shared co-authors 45
Kati J Buckingham
University of Washington
Career Start Year 2005
Number of shared co-authors 31
Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
Career Start Year 2005
Number of shared co-authors 43
Julie Richer
University of Ottawa, Canada Children's Hospital of Eastern Ontario
Career Start Year 2005
Number of shared co-authors 23
Michael A Simpson
King's College London
Career Start Year 2002
Number of shared co-authors 21
Anne O'Donnell-Luria
Broad Institute of MIT and Harvard
Career Start Year 2002
Number of shared co-authors 51
Heidi Cope
GenOmics and Translational Research Center
Career Start Year 2002
Number of shared co-authors 22
Jonathan A Bernstein
Stanford University
Career Start Year 2000
Number of shared co-authors 74
Tony Roscioli
Prince of Wales Hospital
Career Start Year 2000
Number of shared co-authors 46
Christ??le du Souich
University of British Columbia
Career Start Year 1998
Number of shared co-authors 8
Linlea Armstrong
University of British Columbia
Career Start Year 1997
Number of shared co-authors 19
Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Career Start Year 1990
Number of shared co-authors 79
Nicola K Poplawski
Royal Adelaide Hospital
Career Start Year 1990
Number of shared co-authors 10
Felicity Collins
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital
Career Start Year 1990
Number of shared co-authors 16
Patrick J Morrison
Belfast City Hospital
Career Start Year 1989
Number of shared co-authors 12
Cornelius F Boerkoel
University of British Columbia
Career Start Year 1987
Number of shared co-authors 43
Han G Brunner
Maastricht University Medical Centre
Career Start Year 1987
Number of shared co-authors 91
Alessandra Renieri
University of Siena
Career Start Year 1984
Number of shared co-authors 28
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Career Start Year 1983
Number of shared co-authors 40
Thomas C Markello
National Institutes of Health
Career Start Year 1982
Number of shared co-authors 30
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Career Start Year 1982
Number of shared co-authors 73
Jack Goldblatt
King Edward Memorial Hospital for Women
Career Start Year 1978
Number of shared co-authors 16
Graeme Suthers
University of Adelaide
Career Start Year 1977
Number of shared co-authors 13

Collaborators

Jennifer J Johnston
Center for Precision Health Research, National Human Genome Research Institute
Co-authored papers 68
Julie C Sapp
Center for Precision Health Research
Co-authored papers 58
Barbara B Biesecker
and Translational Research Center
Co-authored papers 46
Katie L Lewis
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 45
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 23
William M P Klein
National Cancer Institute
Co-authored papers 20
James C Mullikin
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 20
Robert C Green
Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 18
Anne Slavotinek
Cincinnati Children's Hospital Medical Center
Co-authored papers 17
Joyce Turner
Children's National Hospital.
Co-authored papers 17
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 13
Flavia M Facio
Invitae Corporation
Co-authored papers 13
Jonathan S Berg
University of North Carolina
Co-authored papers 13
Benjamin S Wilfond
University of Washington School of Medicine.
Co-authored papers 12
Eric D Green
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 12
Alejandro A Sch??ffer
National Cancer Institute, National Institutes of Health
Co-authored papers 12
Gregory M Cooper
HudsonAlpha Institute for Biotechnology
Co-authored papers 12
Jamie K Teer
H. Lee Moffitt Cancer Center and Research Institute
Co-authored papers 11
Sharon E Plon
Baylor College of Medicine
Co-authored papers 11
Graeme C M Black
Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital
Co-authored papers 10
Teri A Manolio
National Human Genome Research Institute
Co-authored papers 10
Laura M Amendola
Illumina Inc.
Co-authored papers 10
Kevin M Bowling
Washington University School of Medicine
Co-authored papers 9
Nancy B Spinner
The Perelman School of Medicine at the University of Pennsylvania
Co-authored papers 9
Marc S Williams
University of Washington Medical Center
Co-authored papers 9
John C Carey
Co-authored papers 9
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 9
Robert K Semple
Co-authored papers 8
Amy L McGuire
Baylor College of Medicine.
Co-authored papers 8
Jeffrey Ou
University of Washington Medical Center
Co-authored papers 8
Release 1.2