Publications by authors named "Carli Tops"

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Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.
Noah C Helderman, Ting Yang, Claire Palles, Diantha Terlouw, Hailiang Mei, Carli M Tops

HGG Adv· October 2025

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Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.
Nienke van Engelen, Ronald R de Krijger, Michelle M Kleisman, Lennart A Kester, Saskia M J Hopman, Carli Tops

Pediatr Blood Cancer· September 2025

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Optimal Screening for Hereditary Head and Neck Paraganglioma in Asymptomatic SDHx Variant Carriers in the Netherlands.
Anouk Frederique Heesters, Carli Tops, Thomas Potjer, Eleonora P M Corssmit, Jean-Pierre Bayley

J Neurol Surg B Skull Base· February 2025

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Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis.
Anne-Sophie van der Werf't Lam, Noah C Helderman, Arnoud Boot, Diantha Terlouw, Hans Morreau, Carli Tops

Exp Mol Pathol· December 2024

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Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Xiaoyu Yin, Marcy Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Carli Tops

Am J Hum Genet· November 2024

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Germline NPAT inactivating variants as cause of hereditary colorectal cancer.
Mariona Terradas, Stephanie A Schubert, Julen Viana-Errasti, Dina Ruano, Gemma Aiza, Carli M Tops

Eur J Hum Genet· July 2024

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Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.
Anne-Sophie van der Werf-'t Lam, Mar Rodriguez-Girondo, Mandy Villasmil, Carli M Tops, Liselotte van Hest

Genes Chromosomes Cancer· May 2024

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Systematic large-scale application of ClinGen InSiGHT -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Xiaoyu Yin, Marcy Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Carli Tops

medRxiv· May 2024

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Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation.
Merve Kaya, Cathalijne C B Post, Carli M Tops, Maartje Nielsen, Emma J Crosbie

Mod Pathol· March 2024

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Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Isabel Spier, Xiaoyu Yin, Marcy Richardson, Marta Pineda, Andreas Laner, Carli Tops

Genet Med· February 2024

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Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients.
Diantha Terlouw, Arnoud Boot, Quinten R Ducarmon, Sam Nooij, Manon Suerink, Carli M Tops

BMC Cancer· January 2024

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mosaicism, not always isolated: two first-degree relatives with apparently distinct mosaicism.
Diantha Terlouw, Frederik J Hes, Manon Suerink, Arnoud Boot, Alexandra M J Langers, Carli M Tops

Gut· November 2023

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Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
Anne-Sophie van der Werf-'t Lam, Diantha Terlouw, Carli M Tops, Merel S van Kan, Liselotte P van Hest

Mod Pathol· September 2023

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Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous missense variant (c.1918C>A, p.(Pro640Thr)): a case report.
Firas Akrout, Ahlem Achour, Carli M J Tops, Richard Gallon, Rym Meddeb

Front Oncol· August 2023

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Unexplained mismatch repair deficiency: Case closed.
Ellis L Eikenboom, Sarah Moen, Lotte van Leeuwen, Willemina R R Geurts-Giele, Carli M J Tops

HGG Adv· January 2023

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Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients.
Fadwa A Elsayed, Carli M J Tops, Maartje Nielsen, Hans Morreau, Frederik J Hes

Fam Cancer· January 2022

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Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.
Cathalijne C B Post, Ellen Stelloo, Vincent T H B M Smit, Dina Ruano, Carli M Tops

J Natl Cancer Inst· September 2021

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Gynecological Surveillance and Surgery Outcomes in Dutch Lynch Syndrome Carriers.
Ellis L Eikenboom, Helena C van Doorn, Winand N M Dinjens, Hendrikus J Dubbink, Willemina R R Geurts-Giele, Carli M J Tops

Cancers (Basel)· January 2021

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The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material.
Anne M L Jansen, Carli M J Tops, Dina Ruano, Ronald van Eijk, Juul T Wijnen

Eur J Hum Genet· March 2020

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Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy.
Diantha Terlouw, Manon Suerink, Sunny S Singh, Hans J J P Gille, Frederik J Hes, Carli M Tops

Eur J Hum Genet· February 2020

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The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.
Sanne W Ten Broeke, Mar Rodríguez-Girondo, Manon Suerink, Stefan Aretz, Inge Bernstein, Carli M J Tops

Cancer Epidemiol Biomarkers Prev· June 2019

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Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.
Fadwa A Elsayed, Carli M J Tops, Maartje Nielsen, Dina Ruano, Hans F A Vasen

Mol Genet Genomic Med· April 2019

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Cancer Risks for PMS2-Associated Lynch Syndrome.
Sanne W Ten Broeke, Heleen M van der Klift, Carli M J Tops, Stefan Aretz, Inge Bernstein

J Clin Oncol· October 2018

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Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2.
Sanne W Ten Broeke, Tom C van Bavel, Anne M L Jansen, Encarnca Gómez-García, Frederik J Hes, Carli M Tops

Gastroenterology· September 2018

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RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing.
Anne Ml Jansen, Heleen M van der Klift, Marieke Ae Roos, Jaap Dh van Eendenburg, Carli Mj Tops

Eur J Hum Genet· August 2018

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