Hanne J. Heijboer-Meijers

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 24 publications

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors.

Journal: Molecular genetics & genomic medicine

Published: April 12, 2022

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 08, 2022

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.

Journal: Human molecular genetics

Published: February 22, 2022

Detection and localization of early- and late-stage cancers using platelet RNA.

Detection and localization of early- and late-stage cancers using platelet RNA.

Journal: Cancer cell

Published: December 06, 2021

Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case-Control Study of 105 Patients.

Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case-Control Study of 105 Patients.

Journal: Obesity surgery

Published: October 24, 2021

Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy.

Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy.

Journal: Frontiers in medicine

Published: July 07, 2021

Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.

Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.

Journal: Human reproduction (Oxford, England)

Published: May 27, 2021

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 08, 2020

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.

Journal: American journal of human genetics

Published: February 15, 2020

Increased prevalence of BRCA1/2 mutations in women with macrotextured breast implants and anaplastic large cell lymphoma of the breast.

Increased prevalence of BRCA1/2 mutations in women with macrotextured breast implants and anaplastic large cell lymphoma of the breast.

Journal: Blood

Published: December 11, 2019

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 27, 2019

Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity.

Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity.

Journal: Obesity surgery

Published: October 26, 2019

Showing 1-12 of 24

Last Updated: 09/26/2026