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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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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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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

American journal of human genetics, 2022-12, Vol.109 (12), p.2163-2177

2022

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

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.287-295

2015

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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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Genomic screening for monogenic forms of diabetes

BMC medicine, 2018-02, Vol.16 (1), p.25-25, Article 25

Biesecker, Leslie G

2018

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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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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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Engagement and return of results preferences among a primarily African American genomic sequencing research cohort

American journal of human genetics, 2021-05, Vol.108 (5), p.894-902

2021

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The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

American journal of human genetics, 2012-02, Vol.90 (2), p.295-300

2012

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SomatoSim: precision simulation of somatic single nucleotide variants

BMC bioinformatics, 2021-03, Vol.22 (1), p.109-109, Article 109

2021

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Genetics in medicine, 2016-01, Vol.18 (1), p.41-48

2016

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Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility

Genetics in medicine, 2021-07, Vol.23 (7), p.1288-1295

2021

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VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

Bioinformatics, 2012-02, Vol.28 (4), p.599-600

2012

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A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

American journal of human genetics, 2015-09, Vol.97 (3), p.465-474

2015

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Participant use and communication of findings from exome sequencing: a mixed-methods study

Genetics in medicine, 2016-06, Vol.18 (6), p.577-583

2016

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A genomic view of mosaicism and human disease

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

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

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

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

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

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

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

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

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

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism

Genomic screening for monogenic forms of diabetes

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

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

Engagement and return of results preferences among a primarily African American genomic sequencing research cohort

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

SomatoSim: precision simulation of somatic single nucleotide variants

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

Participant use and communication of findings from exome sequencing: a mixed-methods study

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