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Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

Human mutation, 2015-06, Vol.36 (6), p.648-655

2015

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Intrinsic Molecular Subtypes of Glioma Are Prognostic and Predict Benefit From Adjuvant Procarbazine, Lomustine, and Vincristine Chemotherapy in Combination With Other Prognostic Factors in Anaplastic Oligodendroglial Brain Tumors: A Report From EORTC Study 26951

Journal of clinical oncology, 2013-01, Vol.31 (3), p.328-336

2013

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Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Human mutation, 2000-01, Vol.15 (1), p.7-12

2000

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MGMT-STP27 Methylation Status as Predictive Marker for Response to PCV in Anaplastic Oligodendrogliomas and Oligoastrocytomas. A Report from EORTC Study 26951

Clinical cancer research, 2013-10, Vol.19 (19), p.5513-5522

2013

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Akkermansia muciniphila and Helicobacter typhlonius modulate intestinal tumor development in mice

Carcinogenesis (New York), 2015-11, Vol.36 (11), p.1388-1396

2015

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Describing Sequence Variants Using HGVS Nomenclature

Methods in molecular biology (Clifton, N.J.), 2017-01, Vol.1492, p.243

den Dunnen, Johan T

2017

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Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

American journal of human genetics, 2008-03, Vol.82 (3), p.763-771

2008

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Mutalyzer 2: next generation HGVS nomenclature checker

Bioinformatics (Oxford, England), 2021-09, Vol.37 (18), p.2811-2817

2021

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Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing

Human mutation, 2017-07, Vol.38 (7), p.870-879

2017

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New methods for next generation sequencing based microRNA expression profiling

BMC genomics, 2010-12, Vol.11 (1), p.716-716

2010

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LOVD v.2.0: the next generation in gene variant databases

Human mutation, 2011-05, Vol.32 (5), p.557-563

2011

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LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes

Human mutation, 2018-10, Vol.39 (10), p.1314-1337

2018

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Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals

Human mutation, 2021-01, Vol.42 (1), p.3-7

2021

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Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

American journal of human genetics, 2005-04, Vol.76 (4), p.572-580

2005

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Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation

Nucleic acids research, 2012-10, Vol.40 (18), p.9089-9101

2012

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Detecting authorized and unauthorized genetically modified organisms containing vip3A by real-time PCR and next-generation sequencing

Analytical and bioanalytical chemistry, 2014-04, Vol.406 (11), p.2603-2611

2014

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Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients

Human molecular genetics, 2003-04, Vol.12 (8), p.907-914

2003

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High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoli

Molecular biology of the cell, 2010-11, Vol.21 (21), p.3735-3748

2010

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Phage display screening without repetitious selection rounds

Analytical biochemistry, 2012-02, Vol.421 (2), p.622-631

2012

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Locus Reference Genomic sequences: an improved basis for describing human DNA variants

Genome medicine, 2010-04, Vol.2 (4), p.24-24, Article 24

2010

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Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

Human mutation, 2013-05, Vol.34 (5), p.706-713

2013

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Templated Insertions: A Smoking Gun for Polymerase Theta-Mediated End Joining

Trends in genetics, 2019-09, Vol.35 (9), p.632-644

2019

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LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

Human mutation, 2005-08, Vol.26 (2), p.63-68

2005

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Nature genetics, 2012-04, Vol.44 (4), p.379-380

2012

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P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

Intrinsic Molecular Subtypes of Glioma Are Prognostic and Predict Benefit From Adjuvant Procarbazine, Lomustine, and Vincristine Chemotherapy in Combination With Other Prognostic Factors in Anaplastic Oligodendroglial Brain Tumors: A Report From EORTC Study 26951

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

MGMT-STP27 Methylation Status as Predictive Marker for Response to PCV in Anaplastic Oligodendrogliomas and Oligoastrocytomas. A Report from EORTC Study 26951

Akkermansia muciniphila and Helicobacter typhlonius modulate intestinal tumor development in mice

Describing Sequence Variants Using HGVS Nomenclature

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

Mutalyzer 2: next generation HGVS nomenclature checker

Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing

New methods for next generation sequencing based microRNA expression profiling

LOVD v.2.0: the next generation in gene variant databases

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation

Detecting authorized and unauthorized genetically modified organisms containing vip3A by real-time PCR and next-generation sequencing

Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients

High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoli

Phage display screening without repetitious selection rounds

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

Templated Insertions: A Smoking Gun for Polymerase Theta-Mediated End Joining

LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

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