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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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VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions

Human mutation, 2018-01, Vol.39 (1), p.61-68

2018

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EMQN best practice guidelines for genetic testing in dystrophinopathies

European journal of human genetics : EJHG, 2020-09, Vol.28 (9), p.1141-1159

2020

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Dissecting the phenotypic variability of osteogenesis imperfecta

Disease models & mechanisms, 2022-05, Vol.15 (5)

2022

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Re: Long-term evaluation of anabolic and anti-resorptive agents in adults with familial osteoporosis due to pro205ala variant of the col1a1 gene

Osteoporosis international, 2022-06, Vol.33 (6), p.1403-1404

Dalgleish, Raymond

2022

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Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

Orphanet journal of rare diseases, 2024-07, Vol.19 (1), p.272-3, Article 272

2024

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Re: Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs

Human cell : official journal of Human Cell Research Society, 2024-09, Vol.37 (5), p.1610-1611

Dalgleish, Raymond

2024

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Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

Nucleic acids research, 2014-01, Vol.42 (D1), p.D873-D878

2014

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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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Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency

Fertility and sterility, 2015-02, Vol.103 (2), p.548-553.e5

2015

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LSDBs and How They Have Evolved: HUMAN MUTATION

Human mutation, 2016-06, Vol.37 (6), p.532-539

Dalgleish, Raymond

2016

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The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles

PloS one, 2017, Vol.12 (7), p.e0175582-e0175582

2017

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Mutations in COL1A1 Gene Change Dentin Nanostructure: A Response

Anatomical record (Hoboken, N.J. : 2007), 2018-08, Vol.301 (8), p.1307-1308

Dalgleish, Raymond

2018

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BRIF and Variant Databases

Nature precedings, 2011-01

Dalgleish, Raymond

2011

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VarioML framework for comprehensive variation data representation and exchange

BMC bioinformatics, 2012-10, Vol.13 (1), p.254-254, Article 254

2012

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Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA, 2011-08, Vol.19 (8), p.1403-1403

Dalgleish, Raymond

2011

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The Human Collagen Mutation Database 1998

Nucleic acids research, 1998-01, Vol.26 (1), p.253-255

Dalgleish, R

1998

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A common classification framework for histone sequence alterations in tumours: an expert consensus proposal

The Journal of pathology, 2021-06, Vol.254 (2), p.109-120

2021

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HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions

Leukemia, 2021-11, Vol.35 (11), p.3040-3043

2021

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Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access Contexts

Human mutation, 2015-10, Vol.36 (10), p.957-964

2015

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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

2010

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The human type I collagen mutation database

Nucleic acids research, 1997-01, Vol.25 (1), p.181-187

Dalgleish, R

1997

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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.11-19

2012

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Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

Nucleic acids research, 2014-01, Vol.42 (Database issue), p.D873

2014

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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions

EMQN best practice guidelines for genetic testing in dystrophinopathies

Dissecting the phenotypic variability of osteogenesis imperfecta

Re: Long-term evaluation of anabolic and anti-resorptive agents in adults with familial osteoporosis due to pro205ala variant of the col1a1 gene

Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

Re: Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

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

Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency

LSDBs and How They Have Evolved: HUMAN MUTATION

The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles

Mutations in COL1A1 Gene Change Dentin Nanostructure: A Response

BRIF and Variant Databases

VarioML framework for comprehensive variation data representation and exchange

Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene

The Human Collagen Mutation Database 1998

A common classification framework for histone sequence alterations in tumours: an expert consensus proposal

HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions

Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access Contexts

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

The human type I collagen mutation database

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

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