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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Nature (London), 2018-10, Vol.562 (7726), p.268

2018

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De novo mutations in regulatory elements in neurodevelopmental disorders

Nature (London), 2018-03, Vol.555 (7698), p.611

2018

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DECIPHER : Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

American journal of human genetics, 2009-04, Vol.84 (4), p.524-533

2009

Volltextzugriff (PDF)

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.21-29

2016

Volltextzugriff (PDF)

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

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Importance of adopting standardized MANE transcripts in clinical reporting

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

2023

Volltextzugriff (PDF)

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

2019

Volltextzugriff (PDF)

Evaluating variants classified as pathogenic in ClinVar in the DDD Study

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

2021

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

Nature communications, 2023-12, Vol.14 (1), p.7702-7702, Article 7702

2023

Volltextzugriff (PDF)

Paediatric genomics: diagnosing rare disease in children

Nature reviews. Genetics, 2018-05, Vol.19 (5), p.253

2018

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Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity

PLoS genetics, 2020-09, Vol.16 (9), p.e1008916-e1008916

2020

Volltextzugriff (PDF)

Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

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

2015

Volltextzugriff (PDF)

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Journal of medical genetics, 2018-01, Vol.55 (1), p.28

2018

Volltextzugriff (PDF)

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

Human mutation, 2010-06, Vol.31 (6), p.722-733

2010

Volltextzugriff (PDF)

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

Human molecular genetics, 2016-03, Vol.25 (5), p.927-935

2016

Volltextzugriff (PDF)

Potential research participants support the return of raw sequence data

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

2015

Volltextzugriff (PDF)

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

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

2017

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

De novo mutations in regulatory elements in neurodevelopmental disorders

DECIPHER : Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

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

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

Paediatric genomics: diagnosing rare disease in children

Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity

Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

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

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