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Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

Genetics in medicine, 2015-06, Vol.17 (6), p.444-451

2015

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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 technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

Genetics in medicine, 2014-01, Vol.16 (1), p.101-116

2014

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Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies

Annual review of genomics and human genetics, 2017-08, Vol.18 (1), p.229-256

2017

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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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Inferring the effect of genomic variation in the new era of genomics

Human mutation, 2018-06, Vol.39 (6), p.756-773

2018

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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

Annals of neurology, 2015-02, Vol.77 (2), p.206-214

2015

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College of American Pathologists' laboratory standards for next-generation sequencing clinical tests

Archives of pathology & laboratory medicine (1976), 2015-04, Vol.139 (4), p.481-493

2015

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Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-10, Vol.23 (10), p.1807-1817

2021

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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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Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

American journal of human genetics, 2012-04, Vol.90 (4), p.685-688

2012

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Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Genetics in medicine, 2016-12, Vol.18 (12), p.1282-1289

2016

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Clinical validation of a multiplex PCR-based detection assay using saliva or nasopharyngeal samples for SARS-Cov-2, influenza A and B

Scientific reports, 2022-03, Vol.12 (1), p.3480-3480, Article 3480

2022

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Exploring concordance and discordance for return of incidental findings from clinical sequencing

Genetics in medicine, 2012-04, Vol.14 (4), p.405-410

2012

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Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis: A Report of the Association for Molecular Pathology

The Journal of molecular diagnostics : JMD, 2016-05, Vol.18 (3), p.319-328

2016

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High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

Genetics in medicine, 2021-07, Vol.23 (7), p.1325-1333

2021

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DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

American journal of human genetics, 2012-02, Vol.90 (2), p.363-368

2012

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Marching Towards Personalized Genomic Medicine

The Journal of pediatrics, 2013, Vol.162 (1), p.10-11

Hegde, Madhuri R., PhD

2013

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Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Genome medicine, 2017-12, Vol.9 (1), p.111-111, Article 111

2017

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Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray

The Journal of molecular diagnostics : JMD, 2020-06, Vol.22 (6), p.823-840

2020

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Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

Brain (London, England : 1878), 2014-05, Vol.137 (5), p.1282-1303

2014

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Good laboratory practice for clinical next-generation sequencing informatics pipelines

Nature biotechnology, 2015-07, Vol.33 (7), p.689-693

2015

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Gamut of Genetic Testing for Neonatal Care

Clinics in perinatology, 2015-06, Vol.42 (2), p.217-226

2015

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Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

ACMG clinical laboratory standards for next-generation sequencing

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies

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

Inferring the effect of genomic variation in the new era of genomics

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

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

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Clinical validation of a multiplex PCR-based detection assay using saliva or nasopharyngeal samples for SARS-Cov-2, influenza A and B

Exploring concordance and discordance for return of incidental findings from clinical sequencing

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis: A Report of the Association for Molecular Pathology

High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

Marching Towards Personalized Genomic Medicine

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray

Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

Good laboratory practice for clinical next-generation sequencing informatics pipelines

Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome

Gamut of Genetic Testing for Neonatal Care

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