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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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Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

American journal of human genetics, 2006-09, Vol.79 (3), p.562-566

2006

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Antisense-Induced Multiexon Skipping for Duchenne Muscular Dystrophy Makes More Sense

American journal of human genetics, 2004-01, Vol.74 (1), p.83-92

2004

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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Human mutation, 2016-06, Vol.37 (6), p.564-569

2016

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Stepwise ABC system for classification of any type of genetic variant

European journal of human genetics : EJHG, 2022-02, Vol.30 (2), p.150-159

2022

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The LOVD3 platform: efficient genome-wide sharing of genetic variants

European journal of human genetics : EJHG, 2021-12, Vol.29 (12), p.1796-1803

2021

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A dystrophic Duchenne mouse model for testing human antisense oligonucleotides

PloS one, 2018-02, Vol.13 (2), p.e0193289-e0193289

2018

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OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Orphanet journal of rare diseases, 2019-09, Vol.14 (1), p.214-214, Article 214

2019

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Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

Scientific reports, 2021-02, Vol.11 (1), p.3011-9, Article 3011

2021

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Efficient and sensitive identification and quantification of airborne pollen using next-generation DNA sequencing

Molecular ecology resources, 2015-01, Vol.15 (1), p.8-16

2015

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The effects of low levels of dystrophin on mouse muscle function and pathology

PloS one, 2012-02, Vol.7 (2), p.e31937-e31937

2012

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NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

Human mutation, 2022-02, Vol.43 (2), p.128-142

2022

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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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Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

Human molecular genetics, 2001-07, Vol.10 (15), p.1547-1554

2001

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

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

2015

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Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

Human mutation, 2009-03, Vol.30 (3), p.293-299

2009

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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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High-Resolution Melting Analysis (HRMA)--More than just sequence variant screening

Human mutation, 2009-06, Vol.30 (6), p.860-866

2009

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Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing

Genome Biology, 2018-03, Vol.19 (1), p.46-18, Article 46

2018

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The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

Journal of medical genetics, 2017-04, Vol.54 (4), p.217-223

2017

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Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

European journal of human genetics : EJHG, 2000-10, Vol.8 (10), p.793-796

2000

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Targeting several CAG expansion diseases by a single antisense oligonucleotide

PloS one, 2011-09, Vol.6 (9), p.e24308

2011

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

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

Antisense-Induced Multiexon Skipping for Duchenne Muscular Dystrophy Makes More Sense

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Stepwise ABC system for classification of any type of genetic variant

The LOVD3 platform: efficient genome-wide sharing of genetic variants

A dystrophic Duchenne mouse model for testing human antisense oligonucleotides

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

Efficient and sensitive identification and quantification of airborne pollen using next-generation DNA sequencing

The effects of low levels of dystrophin on mouse muscle function and pathology

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

Describing Sequence Variants Using HGVS Nomenclature

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

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

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

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

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

New methods for next generation sequencing based microRNA expression profiling

High-Resolution Melting Analysis (HRMA)--More than just sequence variant screening

Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

Targeting several CAG expansion diseases by a single antisense oligonucleotide

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