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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

Nature genetics, 2000-08, Vol.25 (4), p.419-422

2000

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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Nature genetics, 2011-10, Vol.43 (10), p.929-931

2011

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Molecular Analysis of Pheochromocytoma after Maternal Transmission of SDHD Mutation Elucidates Mechanism of Parent-of-Origin Effect

The journal of clinical endocrinology and metabolism, 2011-12, Vol.96 (12), p.E2009-E2013

2011

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Prevalence and architecture of de novo mutations in developmental disorders

Nature (London), 2017-02, Vol.542 (7642), p.433-438

2017

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

The Lancet (British edition), 2015-04, Vol.385 (9975), p.1305-1314

2015

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Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

JNCI : Journal of the National Cancer Institute, 2013-06, Vol.105 (11), p.812-822

2013

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

American journal of human genetics, 2018-01, Vol.102 (1), p.175-187

2018

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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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Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial

The Lancet (British edition), 2019-12, Vol.394 (10216), p.2263-2270

2019

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Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Cancer epidemiology, biomarkers & prevention, 2012-01, Vol.21 (1), p.134-147

2012

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Nature genetics, 2015-02, Vol.47 (2), p.164-171

2015

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Nature communications, 2018-11, Vol.9 (1), p.4619-12, Article 4619

2018

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American journal of human genetics, 2019-06, Vol.104 (6), p.1210-1222

2019

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The contribution of X-linked coding variation to severe developmental disorders

Nature communications, 2021-01, Vol.12 (1), p.627-627, Article 627

2021

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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American journal of human genetics, 2019-05, Vol.104 (5), p.948-956

2019

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Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (naxos disease) maps to 17q21

Circulation (New York, N.Y.), 1998-05, Vol.97 (20), p.2049-2058

1998

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Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Cancer research (Chicago, Ill.), 2010-12, Vol.70 (23), p.9742-9754

2010

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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Genetics in medicine, 2024-02, Vol.26 (2), p.101023, Article 101023

2024

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Phenotype and genotype in Nicolaides-Baraitser syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.302-314

2014

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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Breast cancer research : BCR, 2014-12, Vol.16 (6), p.3416-3416, Article 3416

2014

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Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Human molecular genetics, 2009-11, Vol.18 (22), p.4442-4456

2009

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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

Human molecular genetics, 2011-08, Vol.20 (16), p.3304-3321

2011

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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Molecular Analysis of Pheochromocytoma after Maternal Transmission of SDHD Mutation Elucidates Mechanism of Parent-of-Origin Effect

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Prevalence and architecture of de novo mutations in developmental disorders

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

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

Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial

Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

The contribution of X-linked coding variation to severe developmental disorders

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (naxos disease) maps to 17q21

Common genetic variants at the CRAC1 ( HMPS ) locus on chromosome 15q13.3 influence colorectal cancer risk

Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Phenotype and genotype in Nicolaides-Baraitser syndrome

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

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