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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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Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma

PloS one, 2009-11, Vol.4 (11), p.e7987-e7987

2009

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Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

Human mutation, 2008-01, Vol.29 (1), p.6-13

2008

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Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families

Oncogene, 2004-05, Vol.23 (23), p.4076-4083

2004

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Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications

Human mutation, 2017-04, Vol.38 (4), p.339-342

2017

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The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

BMC medical genetics, 2005-11, Vol.6 (1), p.39-39, Article 39

2005

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Mutations in SDHD, A Mitochondrial Complex II Gene, in Hereditary Paraganglioma

Science (American Association for the Advancement of Science), 2000-02, Vol.287 (5454), p.848-851

2000

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Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

Human mutation, 2014-06, Vol.35 (6), p.766-778

2014

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An efficient algorithm for the extraction of HGVS variant descriptions from sequences

Bioinformatics (Oxford, England), 2015-12, Vol.31 (23), p.3751-3757

2015

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Describing structural changes by extending HGVS sequence variation nomenclature

Human mutation, 2011-05, Vol.32 (5), p.507-511

2011

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In search of triallelism in Bardet-Biedl syndrome

European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.420-427

2012

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Curating gene variant databases (LSDBs): Toward a universal standard

Human mutation, 2012-02, Vol.33 (2), p.291-297

2012

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Polymorphism of μ-opioid receptor gene (OPRM1:c.118a>G) does not protect against opioid-induced respiratory depression despite reduced analgesic response

Anesthesiology (Philadelphia), 2005-03, Vol.102 (3), p.522-530

2005

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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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Mutalyzer 2: next generation HGVS nomenclature checker

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

2021

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Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

BMC medical genetics, 2006-01, Vol.7 (1), p.1-1, Article 1

2006

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Deep sequencing to reveal new variants in pooled DNA samples

Human mutation, 2009-12, Vol.30 (12), p.1703-1712

2009

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A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

BMC bioinformatics, 2011-07, Vol.12 Suppl 4 (S4), p.S5-S5, Article S5

2011

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A germline chromothripsis event stably segregating in 11 individuals through three generations

Genetics in medicine, 2016-05, Vol.18 (5), p.494-500

2016

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Hereditary Paraganglioma Due to the SDHD M1I Mutation in a Second Chinese Family: A Founder Effect?

The Laryngoscope, 2003-06, Vol.113 (6), p.1055-1058

2003

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Caenorhabditis elegans as a model for lysosomal storage disorders

Biochimica et biophysica acta, 2008-07, Vol.1782 (7), p.433-446

2008

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Pharmacokinetic-pharmacodynamic modeling of morphine-6-glucuronide-induced analgesia in healthy volunteers: Absence of sex differences

Anesthesiology (Philadelphia), 2004, Vol.100 (1), p.120-133

2004

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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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Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

Annals of neurology, 2001-08, Vol.50 (2), p.269-272

2001

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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families

Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice

Mutations in SDHD, A Mitochondrial Complex II Gene, in Hereditary Paraganglioma

Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

An efficient algorithm for the extraction of HGVS variant descriptions from sequences

Describing structural changes by extending HGVS sequence variation nomenclature

In search of triallelism in Bardet-Biedl syndrome

Curating gene variant databases (LSDBs): Toward a universal standard

Polymorphism of μ-opioid receptor gene (OPRM1:c.118a>G) does not protect against opioid-induced respiratory depression despite reduced analgesic response

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

Mutalyzer 2: next generation HGVS nomenclature checker

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

Deep sequencing to reveal new variants in pooled DNA samples

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

A germline chromothripsis event stably segregating in 11 individuals through three generations

Hereditary Paraganglioma Due to the SDHD M1I Mutation in a Second Chinese Family: A Founder Effect?

Caenorhabditis elegans as a model for lysosomal storage disorders

Pharmacokinetic-pharmacodynamic modeling of morphine-6-glucuronide-induced analgesia in healthy volunteers: Absence of sex differences

VarioML framework for comprehensive variation data representation and exchange

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

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