Johan P. Gille

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 25 publications

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Journal: American journal of human genetics

Published: April 20, 2026

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Journal: Molecular neurodegeneration

Published: February 20, 2025

Cohort profile: a nationwide study in Dutch CHEK2 c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands - Hebon-CHEK2.

Cohort profile: a nationwide study in Dutch CHEK2 c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands - Hebon-CHEK2.

Journal: BMJ open

Published: October 09, 2024

Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.

Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.

Journal: Acta neuropathologica

Published: October 02, 2023

Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.

Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.

Journal: Journal of human genetics

Published: March 14, 2022

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.

Journal: Nature genetics

Published: July 31, 2021

Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation.

Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation.

Journal: Neuro-oncology

Published: April 17, 2021

Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study.

Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study.

Journal: Journal of the American Academy of Dermatology

Published: August 12, 2018

Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome.

Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 24, 2018

Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation.

Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation.

Journal: Journal of community genetics

Published: April 05, 2018

Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.

Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.

Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Published: February 05, 2018

A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

Journal: Molecular genetics & genomic medicine

Published: November 02, 2016

Showing 1-12 of 25

Last Updated: 09/26/2026