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DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

Nucleic acids research, 2014-01, Vol.42 (Database issue), p.D993-D1000

2014

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Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Nature communications, 2019-05, Vol.10 (1), p.2373-10, Article 2373

2019

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De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

American journal of human genetics, 2014-04, Vol.94 (4), p.618-624

2014

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Importance of adopting standardized MANE transcripts in clinical reporting

Genetics in medicine, 2023-02, Vol.25 (2), p.100331-100331, Article 100331

2023

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Contribution of retrotransposition to developmental disorders

Nature communications, 2019-10, Vol.10 (1), p.4630-10, Article 4630

2019

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Pathogenicity and selective constraint on variation near splice sites

Genome research, 2019-02, Vol.29 (2), p.159-170

2019

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Evaluating variants classified as pathogenic in ClinVar in the DDD Study

Genetics in medicine, 2021-03, Vol.23 (3), p.571-575

2021

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Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

Scientific reports, 2024-04, Vol.14 (1), p.8708-8708, Article 8708

2024

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Minimum information and guidelines for reporting a multiplexed assay of variant effect

Genome Biology, 2024-04, Vol.25 (1), p.100-8, Article 100

2024

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Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

Human mutation, 2015-10, Vol.36 (10), p.941-949

2015

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Potential research participants support the return of raw sequence data

Journal of medical genetics, 2015-08, Vol.52 (8), p.571-574

2015

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“Matching” consent to purpose: The example of the Matchmaker Exchange

Human mutation, 2017-10, Vol.38 (10), p.1281-1285

2017

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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Genetics in medicine, 2019-11, Vol.21 (11), p.2413-2421

2019

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IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders

HGG advances, 2023-01, Vol.4 (1), p.100162-100162, Article 100162

2023

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A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

European journal of human genetics : EJHG, 2009-12, Vol.17 (12), p.1592-1599

2009

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Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome

Molecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1708-n/a

2021

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Challenges of using whole genome sequencing in population newborn screening

BMJ (Online), 2024-03, Vol.384, p.e077060

2024

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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

The New England journal of medicine, 2023-04, Vol.388 (17), p.1559-1571

2023

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Genomic variant sharing: a position statement

Wellcome open research, 2019, Vol.4, p.22-22

2019

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The Deciphering Developmental Disorders (DDD) study

Developmental medicine and child neurology, 2011-08, Vol.53 (8), p.702-703

2011

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Quantifying the contribution of recessive coding variation to developmental disorders

Science (American Association for the Advancement of Science), 2018-12, Vol.362 (6419), p.1161-1164

2018

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DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research

Human mutation, 2022-06, Vol.43 (6), p.682-697

2022

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Population screening requires robust evidence—genomics is no exception

The Lancet (British edition), 2024-02, Vol.403 (10426), p.583-586

2024

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DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data

Annual review of genomics and human genetics, 2023-08, Vol.24 (1), p.151-176

2023

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DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

Importance of adopting standardized MANE transcripts in clinical reporting

Contribution of retrotransposition to developmental disorders

Pathogenicity and selective constraint on variation near splice sites

Evaluating variants classified as pathogenic in ClinVar in the DDD Study

Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

Minimum information and guidelines for reporting a multiplexed assay of variant effect

Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

Potential research participants support the return of raw sequence data

“Matching” consent to purpose: The example of the Matchmaker Exchange

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome

Challenges of using whole genome sequencing in population newborn screening

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

Genomic variant sharing: a position statement

The Deciphering Developmental Disorders (DDD) study

Quantifying the contribution of recessive coding variation to developmental disorders

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research

Population screening requires robust evidence—genomics is no exception

DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

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