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Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

Cancer discovery, 2013-04, Vol.3 (4), p.399-405

2013

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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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Abnormalities of glucocorticoid metabolism and the renin—angiotensin system: a four-corners approach to the identification of genetic determinants of blood pressure

Journal of hypertension, 1992-05, Vol.10 (5), p.473-482

1992

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Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

Nature genetics, 2000-05, Vol.25 (1), p.42-46

2000

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Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

American journal of human genetics, 2012-01, Vol.90 (1), p.170-170

2012

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The Angiotensin I Converting Enzyme Gene and Predisposition to High Blood Pressure

Hypertension (Dallas, Tex. 1979), 1993-04, Vol.21 (4), p.455-460

1993

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Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

American journal of human genetics, 2011-12, Vol.89 (6), p.767-772

2011

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A human BRCA1 gene knockout

Nature (London), 1995-06, Vol.375 (6532), p.541-542

1995

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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Nature communications, 2019-04, Vol.10 (1), p.1741-18, Article 1741

2019

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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Genetics in medicine, 2020-10, Vol.22 (10), p.1653-1666

2020

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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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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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Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

European urology, 2014-09, Vol.66 (3), p.489-499

2014

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LH-RH and its Analogues: Fertility and Antifertility Aspects

1, 2019

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Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

JNCI : Journal of the National Cancer Institute, 2019-04, Vol.111 (4), p.350-364

2019

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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Nature communications, 2021-02, Vol.12 (1), p.1078-22, Article 1078

2021

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The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Genetics in medicine, 2021-09, Vol.23 (9), p.1726-1737

2021

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Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

American journal of human genetics, 2008-04, Vol.82 (4), p.937-948

2008

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Appendectomy Versus Observation for Appendicitis in Neutropenic Children With Cancer

Pediatrics (Evanston), 2021-02, Vol.147 (2), p.e2020027797

2021

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Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Nature communications, 2021-05, Vol.12 (1), p.2986-2, Article 2986

2021

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Zika-specific neutralizing antibodies targeting inter-dimer envelope epitopes

Cell reports (Cambridge), 2023-08, Vol.42 (8), p.112942-112942, Article 112942

2023

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RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies

American journal of human genetics, 2007-12, Vol.81 (6), p.1186-1200

2007

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Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

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

Abnormalities of glucocorticoid metabolism and the renin—angiotensin system: a four-corners approach to the identification of genetic determinants of blood pressure

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

The Angiotensin I Converting Enzyme Gene and Predisposition to High Blood Pressure

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

A human BRCA1 gene knockout

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

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

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Germline mutations in RAD51D confer susceptibility to ovarian cancer

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

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

Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

LH-RH and its Analogues: Fertility and Antifertility Aspects

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Appendectomy Versus Observation for Appendicitis in Neutropenic Children With Cancer

Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Zika-specific neutralizing antibodies targeting inter-dimer envelope epitopes

RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies

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