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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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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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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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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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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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Gamut of Genetic Testing for Neonatal Care

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

2015

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Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.78-85

2013

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Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Proceedings of the National Academy of Sciences - PNAS, 2013-09, Vol.110 (37), p.14990-14994

2013

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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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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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Empirical evaluation of oligonucleotide probe selection for DNA microarrays

PloS one, 2010-03, Vol.5 (3), p.e9921-e9921

2010

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A Homozygous Mutation in MSH6 Causes Turcot Syndrome

Clinical cancer research, 2005-07, Vol.11 (13), p.4689-4693

2005

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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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Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

Human mutation, 2016-06, Vol.37 (6), p.559-563

2016

Volltextzugriff (PDF)

The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy

Annual review of genomics and human genetics, 2021-01, Vol.22 (1), p.285-307

2021

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The role of clinical response to treatment in determining pathogenicity of genomic variants

Genetics in medicine, 2021-03, Vol.23 (3), p.581-585

2021

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Early and consistent pattern of proximal weakness in GNE myopathy

Muscle & nerve, 2021-02, Vol.63 (2), p.199-203

2021

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Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene

Genome research, 2012-01, Vol.22 (1), p.25

2012

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Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

Human mutation, 2013-09, Vol.34 (9), p.1183-1188

2013

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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

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

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

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

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

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

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

Marching Towards Personalized Genomic Medicine

Gamut of Genetic Testing for Neonatal Care

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

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

Good laboratory practice for clinical next-generation sequencing informatics pipelines

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

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

Empirical evaluation of oligonucleotide probe selection for DNA microarrays

A Homozygous Mutation in MSH6 Causes Turcot Syndrome

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

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine

The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy

The role of clinical response to treatment in determining pathogenicity of genomic variants

Early and consistent pattern of proximal weakness in GNE myopathy

Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene

Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

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