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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Genetics in medicine, 2015-05, Vol.17 (5), p.405-424

2015

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ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

Genetics in medicine, 2013-07, Vol.15 (7), p.575-586

2013

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ACMG clinical laboratory standards for next-generation sequencing

Genetics in medicine, 2013-09, Vol.15 (9), p.733-747

2013

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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

Genetics in medicine, 2008-04, Vol.10 (4), p.294-300

2008

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Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine

Expert review of molecular diagnostics, 2018-05, Vol.18 (5), p.411-421

2018

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Genotyping of Single-Nucleotide Polymorphisms by High-Resolution Melting of Small Amplicons

Clinical chemistry (Baltimore, Md.), 2004-07, Vol.50 (7), p.1156-1164

2004

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LightCycler Technology in Molecular Diagnostics

The Journal of molecular diagnostics : JMD, 2009-03, Vol.11 (2), p.93-101

2009

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Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine

PloS one, 2015-07, Vol.10 (7), p.e0133890-e0133890

2015

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Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin

Genetics in medicine, 2008-02, Vol.10 (2), p.139-150

2008

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Understanding the Genome: Professional Guidelines in Clinical Genomic Testing and Interpretation

Blood, 2017-12, Vol.130 (Suppl_1), p.SCI-5-SCI-5

Lyon, Elaine

2017

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Mutation detection using fluorescent hybridization probes and melting curve analysis

Expert review of molecular diagnostics, 2001-05, Vol.1 (1), p.92-101

Lyon, Elaine

2001

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Alport syndrome COL4A5 variant database

Human mutation, 2010-08, Vol.31 (8), p.E1652-E1657

2010

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Distinguishing different DNA heterozygotes by high-resolution melting

Clinical chemistry (Baltimore, Md.), 2005-07, Vol.51 (7), p.1295-1298

2005

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Characterizing genetic variants for clinical action

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-03, Vol.166C (1), p.93-104

2014

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Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene

PloS one, 2011-03, Vol.6 (3), p.e18380-e18380

2011

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The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer

The Journal of molecular diagnostics : JMD, 2016-09, Vol.18 (5), p.605-619

2016

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α1 -Antitrypsin Deficiency in Fraternal Twins Born With Familial Spontaneous Pneumothorax

Chest, 2012, Vol.141 (1), p.239-241

2012

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Hereditary Hemochromatosis Since Discovery of the HFE Gene

Clinical chemistry (Baltimore, Md.), 2001-07, Vol.47 (7), p.1147-1156

2001

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Noncontinuously Binding Loop-Out Primers for Avoiding Problematic DNA Sequences in PCR and Sanger Sequencing

The Journal of molecular diagnostics : JMD, 2014-09, Vol.16 (5), p.477-480

2014

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Unlabeled oligonucleotide probes modified with locked nucleic acids for improved mismatch discrimination in genotyping by melting analysis

BioTechniques, 2005-11, Vol.39 (5), p.644-650

2005

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Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-05, Vol.23 (5), p.799-812

2021

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Clinical and Analytical Sensitivities in Hereditary Hemorrhagic Telangiectasia Testing and a Report of de Novo Mutations

The Journal of molecular diagnostics : JMD, 2007-04, Vol.9 (2), p.258-265

2007

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Revisiting Oversight and Regulation of Molecular-Based Laboratory-Developed Tests

The Journal of molecular diagnostics : JMD, 2014, Vol.16 (1), p.3-6

2014

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The Case for Laboratory Developed Procedures

Academic pathology, 2017-01, Vol.4, p.2374289517708309, Article 2374289517708309

2017

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ClinGen — The Clinical Genome Resource

The New England journal of medicine, 2015-06, Vol.372 (23), p.2235-2242

2015

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

ACMG clinical laboratory standards for next-generation sequencing

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine

Genotyping of Single-Nucleotide Polymorphisms by High-Resolution Melting of Small Amplicons

LightCycler Technology in Molecular Diagnostics

Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine

Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin

Understanding the Genome: Professional Guidelines in Clinical Genomic Testing and Interpretation

Mutation detection using fluorescent hybridization probes and melting curve analysis

Alport syndrome COL4A5 variant database

Distinguishing different DNA heterozygotes by high-resolution melting

Characterizing genetic variants for clinical action

Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene

The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer

α1 -Antitrypsin Deficiency in Fraternal Twins Born With Familial Spontaneous Pneumothorax

Hereditary Hemochromatosis Since Discovery of the HFE Gene

Noncontinuously Binding Loop-Out Primers for Avoiding Problematic DNA Sequences in PCR and Sanger Sequencing

Unlabeled oligonucleotide probes modified with locked nucleic acids for improved mismatch discrimination in genotyping by melting analysis

Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Clinical and Analytical Sensitivities in Hereditary Hemorrhagic Telangiectasia Testing and a Report of de Novo Mutations

Revisiting Oversight and Regulation of Molecular-Based Laboratory-Developed Tests

The Case for Laboratory Developed Procedures

ClinGen — The Clinical Genome Resource

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