Carli M. Tops

Leiden, ZH, Netherlands

Last Updated: 09/26/2026

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Found 44 publications

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition.

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition.

Journal: American journal of medical genetics. Part A

Published: November 19, 2025

Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.

Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.

Journal: Pediatric blood & cancer

Published: March 07, 2025

Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.

Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.

Journal: Gastroenterology

Published: February 12, 2025

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.

Journal: HGG advances

Published: December 16, 2024

Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.

Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.

Journal: medRxiv : the preprint server for health sciences

Published: May 15, 2024

Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis.

Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis.

Journal: Experimental and molecular pathology

Published: April 30, 2024

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Journal: American journal of human genetics

Published: April 14, 2024

Germline NPAT inactivating variants as cause of hereditary colorectal cancer.

Germline NPAT inactivating variants as cause of hereditary colorectal cancer.

Journal: European journal of human genetics : EJHG

Published: February 05, 2024

Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.

Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.

Journal: Genes, chromosomes & cancer

Published: December 14, 2023

Optimal Screening for Hereditary Head and Neck Paraganglioma in Asymptomatic SDHx Variant Carriers in the Netherlands.

Optimal Screening for Hereditary Head and Neck Paraganglioma in Asymptomatic SDHx Variant Carriers in the Netherlands.

Journal: Journal of neurological surgery. Part B, Skull base

Published: November 23, 2023

Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation.

Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation.

Journal: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

Published: October 09, 2023

Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients.

Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients.

Journal: Genes, chromosomes & cancer

Published: July 04, 2023

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Last Updated: 09/26/2026