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Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders2020 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Dennis Lal, Patrick May, Eduardo Pérez‐Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise Robinson, +24 more
72citations -
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Petros Kountouris, Coralea Stephanou, Carsten Werner Lederer, Joanne Traeger‐Synodinos, Celeste Bento, Cornelis L. Harteveld, +8 more
39citations -
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Michael G. Anderson, Windy Berkofsky‐Fessler, +37 more
101citations -
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant2022 Circulation Genomic and Precision Medicine article Medicine Cardiovascular Effects of Exercise Open access
Edgar T. Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria Nicole Parikh, Gerard J. te Meerman, +43 more
30citations -
P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL2022 HemaSphere article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Coralea Stephanou, Petros Kountouris, Carsten Werner Lederer, Celeste Bento, C Cornelis L Hartveld, J Jan Traeger-Synodinos, +22 more
0citations -
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS2024 The American Journal of Human Genetics article Medicine Genetic factors in colorectal cancer Open access
Xiaoyu Yin, Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, +26 more
17citations -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification2025 Nature Communications article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas James Boddicker, +87 more
11citations -
Standardizing variant naming in literature with VariantValidator to increase diagnostic rates2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
John F. Wagstaff, Ivo F.A.C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, +2 more
19citations -
Comparison of the ABC and ACMG systems for variant classification2024 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansović, +41 more
15citations -
Stepwise ABC system for classification of any type of genetic variant2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 2 patents
Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen
102citations -
A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification2026 Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning, Maaike P.G. Vreeswijk, Mar D M Rodríguez-Girondo
0citations -
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis2024 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Meghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, Alexander Schmid, Manuel Holtgrewe, Miriam Elbracht, +2 more
3citations -
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants2024 Neurogenetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Lena Sagi‐Dain, Annemieke M Aartsma-Rus, Moran Echar, Julia Grinshpun‐Cohen, Amihood Singer
1citations -
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene2020 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Patricia Llovet, Beatriz Díez‐Gómez, Marı́a J. Caloca, +9 more
20citations -
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2021 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elke de Boer, Burcu Yaldız, Anne‐Sophie Denommé‐Pichon, Leslie Matalonga, Steven Laurie, Wouter Steyaert, +67 more
3citations -
ACMG / AMP ‐Based Variant Classification of a Novel HBA2 Variant ( HBA2 : C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana ( HBA2 :C. 179G >A) Causing Non‐Deletional Hb H Disease2026 International Journal of Laboratory Hematology article Medicine Hemoglobinopathies and Related Disorders Open access
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, +9 more
0citations -
Introduction to Galaxy Platform for NGS Variant Calling Pipeline2020 Advancements in Life Sciences (University of the Punjab) article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Rashid Saif, Aniqa Ejaz, Tania Mehmood, Suliman Mohammad Alghanem, Talha Saleem Ahmad
5citations -
Breakthrough SARS-CoV-2 infections with the delta (B.1.617.2) variant in vaccinated patients with immune-mediated inflammatory diseases using immunosuppressants: a substudy of two prospective cohort studies
Koos P J van Dam, Sander W. Tas, Nicoline F. Post, Fréderike J. Bemelman, Agner R. Parra Sánchez, Abraham Rutgers, +7 more
47citations -
Population and family data support TNNT2 p.Arg288Cys as an intermediate effect variant in hypertrophic cardiomyopathy2026 International Journal of Cardiology article Medicine Cardiomyopathy and Myosin Studies Open access
Talitha C. F. Spanjersberg, Fahima Hassanzada, Jan D.H. Jongbloed, Dennis Dooijes, J. Peter van Tintelen, Folkert Wouter Asselbergs, +5 more
0citations