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PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Manon H. C. A Peeters, Mubeen Khan, Anoek A. M. B Rooijakkers, Timo W. F. Mulders, Lonneke Haer‐Wigman, Camiel J. F. Boon, +7 more
42citations -
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Manon H. C. A Peeters, Mubeen Khan, Anoek A. M. B Rooijakkers, Timo W. F. Mulders, Lonneke Haer‐Wigman, Camiel J. F. Boon, +7 more
7citations -
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa2024 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Katherine Whiting, Lonneke Haer‐Wigman, Ralph J. Florijn, Ronald van Beek, Machteld M. Oud, Astrid S. Plomp, +3 more
3citations -
Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy2023 Frontiers in Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Shala Ghaderi Berntsson, Hans Matsson, Anna Kristoffersson, Valter Niemelä, Hermine A. van Duyvenvoorde, Cindy Richel-van Assenbergh, +4 more
1citations -
Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant2025 Pediatric Blood & Cancer article Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access
Nienke van Engelen, Ronald R. de Krijger, Michelle M Kleisman, Lennart A. Kester, Saskia M. J. Hopman, Mariëtte E.G. Kranendonk, +7 more
3citations -
Long‐Read Sequencing Enhances Pharmacogenomic Profiling by Resolving Complex Haplotypes, Novel Star Alleles, and Structural Variants2025 Clinical Pharmacology & Therapeutics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism
Sumudu Rangika Samarasinghe, Andrea Gaedigk, Jesse Joachim Swen, Henk‐Jan Guchelaar, Shivashankar Hiriyur Nagaraj
3citations -
Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel L2HGDH Mutation with a Concurrent RYR1 Variant2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zahra Beyzaei, Seyed Mohsen Dehghani, Bita Geramizadeh, Ralf Weiskirchen
0citations -
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact2025 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Céline Léon, Marie‐Françoise Odou, Bertrand Roquelaure, Louis Lebreton, Mathias Ruiz, Carolin Victoria Schneider, +19 more
0citations -
Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene2023 Frontiers in Oncology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Richa Sharma, Ninad Oak, Wenan Chen, Rose A. Gogal, Martin Kirschner, Fabian Beier, +4 more
5citations -
Novel histones and histone variant families in prokaryotes2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access
Samuel Schwab, Yimin Hu, Bert van Erp, Marc K M Cajili, Marcus D. Hartmann, Birte Hernandez Alvarez, +3 more
5citations -
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study2024 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Rawda Naamneh Elzenaty, Idoia Martinez de la Piscina, Chrysanthi Kouri, Kay‐Sara Sauter, Grit Sommer, Luis Antonio Castaño, +1 more
10citations -
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 -
Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Naomi Wilcox, Martine Dumont, Anna González‐Neira, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, +45 more
1citations -
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD2024 Genome Medicine article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Jonathan Emanuel Knikman, Qinglian Zhai, Carin A.T.C. Lunenburg, Linda M. Henricks, Stefan Böhringer, Maaike van der Lee, +22 more
13citations