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A genomic view of mosaicism and human disease

Nature reviews. Genetics, 2013-05, Vol.14 (5), p.307-320

2013

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Diagnostic Clinical Genome and Exome Sequencing

The New England journal of medicine, 2014-06, Vol.370 (25), p.2418-2425

2014

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The ACMG/AMP reputable source criteria for the interpretation of sequence variants

Genetics in medicine, 2018-12, Vol.20 (12), p.1687-1688

2018

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

Human mutation, 2018-11, Vol.39 (11), p.1517-1524

2018

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

Genetics in medicine, 2018-09, Vol.20 (9), p.1054-1060

2018

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Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants

Clinical chemistry (Baltimore, Md.), 2016-04, Vol.62 (4), p.647-654

2016

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Correspondence on: “Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features”

Atherosclerosis, 2021-06, Vol.326, p.63-64

Biesecker, Leslie G.

2021

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Invited Commentary on "My Research Results: a program to facilitate return of clinically actionable genomic research findings" by Willis et al

European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.256-257

Biesecker, Leslie G

2022

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Exome sequencing makes medical genomics a reality

Nature genetics, 2010-01, Vol.42 (1), p.13-14

Biesecker, Leslie G

2010

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Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

Genetics in medicine, 2012-04, Vol.14 (4), p.393-398

Biesecker, Leslie G

2012

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Characterizing Participants in the ClinSeq Genome Sequencing Cohort as Early Adopters of a New Health Technology

PloS one, 2015-07, Vol.10 (7), p.e0132690-e0132690

2015

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Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

Human mutation, 2020-10, Vol.41 (10), p.1734-1737

2020

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Secondary findings in exome slices, virtual panels, and anticipatory sequencing

Genetics in medicine, 2019-01, Vol.21 (1), p.41-43

Biesecker, Leslie G.

2019

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Hypothesis-generating research and predictive medicine

Genome research, 2013-07, Vol.23 (7), p.1051-1053

Biesecker, Leslie G

2013

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Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

American journal of human genetics, 2012-07, Vol.91 (1), p.97-108

2012

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Incidental Variants Are Critical for Genomics

American journal of human genetics, 2013-05, Vol.92 (5), p.648-651

Biesecker, Leslie G.

2013

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Polydactyly: How many disorders and how many genes? 2010 update

Developmental dynamics, 2011-05, Vol.240 (5), p.931-942

Biesecker, Leslie G.

2011

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Genomic screening and genomic diagnostic testing-two very different kettles of fish

Genome medicine, 2019-11, Vol.11 (1), p.75-75, Article 75

Biesecker, Leslie G

2019

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Updated recommendation for the benign stand‐alone ACMG/AMP criterion

Human mutation, 2018-11, Vol.39 (11), p.1525-1530

2018

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Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome

PloS one, 2015-10, Vol.10 (10), p.e0140705-e0140705

2015

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

Genetics in medicine, 2013-07, Vol.15 (7), p.565-574

2013

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

American journal of human genetics, 2013-02, Vol.92 (2), p.221-237

2013

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GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

American journal of human genetics, 2016-11, Vol.99 (5), p.1034-1044

2016

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Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1213-1217

2011

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A genomic view of mosaicism and human disease

Diagnostic Clinical Genome and Exome Sequencing

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

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

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

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants

Correspondence on: “Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features”

Invited Commentary on "My Research Results: a program to facilitate return of clinically actionable genomic research findings" by Willis et al

Exome sequencing makes medical genomics a reality

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

Characterizing Participants in the ClinSeq Genome Sequencing Cohort as Early Adopters of a New Health Technology

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

Secondary findings in exome slices, virtual panels, and anticipatory sequencing

Hypothesis-generating research and predictive medicine

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Incidental Variants Are Critical for Genomics

Polydactyly: How many disorders and how many genes? 2010 update

Genomic screening and genomic diagnostic testing-two very different kettles of fish

Updated recommendation for the benign stand‐alone ACMG/AMP criterion

Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome

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

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

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

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

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