Not finding it? Sign in to also search OpenAlex live.
-
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers
Robert H. E. Blatter, Benjamin Tschupp, Stefan Aretz, Inge Bernstein, Chrystelle Colas, D. Gareth Evans, +12 more
77citations -
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 -
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 -
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 -
The GENESIS database and tools: A decade of discovery in Mendelian genomics2024 Experimental Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Matt Christopher Danzi, Eric H. Powell, Adriana P. Rebelo, Maike Franziska Dohrn, Danique Beijer, Sarah Fazal, +29 more
6citations -
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 -
Augmentation of 3D virtual aggregate database using deep convolutional Wasserstein generative adversarial networks2025 Advanced Engineering Informatics article Engineering Asphalt Pavement Performance Evaluation Open access
Dong Feng, Jinchao Guan, Chaoliang Fu, Yuanyuan Hu, Frédéric Otto, Álvaro García
20citations -
pmTR database: population matched (pm) germline allelic variants of T-cell receptor (TR) loci2022 Genes and Immunity article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Julian Dekker, Jacques J. M. van Dongen, Marcel J. T. Reinders, Indu Khatri
8citations -
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data2024 Journal of Neuromuscular Diseases article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Nienke M. van de Velde, Yvonne D. Krom, J. Bongers, Rianne J A Hoek, N.A. Ikelaar, Menno van der Holst, +11 more
7citations -
A graph-based approach to variant description extraction from sequences2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Mark Santcroos, Walter A. Kosters, Mihai Lefter, Jeroen F. J. Laros, Jonathan K. Vis
0citations -
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium2022 Hereditary Cancer in Clinical Practice article Medicine Genetic factors in colorectal cancer Open access
Pål Møller, Toni T. Seppälä, James G. Dowty, Saskia Haupt, Mev Dominguez–Valentin, Lone Sunde, +94 more
63citations -
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database2020 Journal of Clinical Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mev Dominguez–Valentin, Toni T. Seppälä, Christoph Engel, Stefan Aretz, Finlay Macrae, Ingrid Winship, +39 more
23citations -
The variant T allele of PvuII in ESR1 gene is a prognostic marker in early breast cancer survival2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies Open access
Danny Houtsma, Stefanie de Groot, Renée F. Baak-Pablo, Elma Meershoek‐Klein Kranenbarg, Caroline Seynaeve, Cornelis J.�H. van de Velde, +4 more
8citations