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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog, Goska Leslie, Thea M. Mooij, Joe Dennis, +78 more
147citations -
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, +58 more
9citations -
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Sheng‐Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha Saad Zaki, Huda Shujaa Aldeen, +31 more
14citations -
863 different causes of Rett syndrome and lessons learned from data integration.2020 preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, +6 more
1citations -
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk2021 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Rick A.C.M. Boonen, Wouter W. Wiegant, Nandi Celosse, Bas Vroling, Stephan Heijl, Zsofia Kote‐Jarai, +10 more
58citations -
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, +6 more
37citations -
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants2023 Clinical Chemistry article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Elena Bueno Martínez, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, +8 more
14citations -
Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy2022 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Katja Eggermann, Robert Meyer, Matthias Begemann, Daniela Dey, E. Bültmann, Ingo Kurth, +2 more
4citations -
Interlaboratory comparison using inactivated SARS-CoV-2 variants as a feasible tool for quality control in COVID-19 wastewater monitoring2023 The Science of The Total Environment article Medicine SARS-CoV-2 detection and testing Open access
Alexander Wilhelm, Jens Schoth, Christina Meinert‐Berning, Daniel Bastian, Helmut Blum, Goffe Elsinga, +17 more
11citations -
Heterozygous variants in SPTBN1 cause intellectual disability and autism2021 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Jill Anne Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael James Parker, Mary Kay Koenig, +14 more
38citations -
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Jihoon G. Yoon, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho, Soo Yeon Kim, +9 more
10citations -
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 -
Expression and Refolding of the Plant Chitinase From Drosera capensis for Applications as a Sustainable and Integrated Pest Management2021 Frontiers in Bioengineering and Biotechnology article Biochemistry, Genetics and Molecular Biology Studies on Chitinases and Chitosanases Open access
Igor Sinelnikov, Niklas E. Siedhoff, Andrey M. Chulkin, Ivan N. Zorov, Ulrich Schwaneberg, Mehdi D. Davari, +4 more
12citations -
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Federico Tessadori, Karen J. Duran, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, +57 more
36citations -
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects2023 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Andreas Roos, Peter F. M. van der Ven, Hadil Alrohaif, Heike Kölbel, Lorena Heil, Adela Della Marina, +26 more
10citations -
PiS and PiS-plus alleles. The importance of phasing gene variants in Alpha-1 Antitrypsin Deficiency2020 conference-abstract Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms
Nerea Matamala, Gema Gómez‐Mariano, José Antonio Pérez Pérez, Beatriz Baladrón, María Torres‐Durán, Francisco Javier Michel, +7 more
0citations -
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context2023 European Journal of Pediatrics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Michelle van Slobbe, Arie van Haeringen, Lisenka E.L.M. Vissers, Emilia K. Bijlsma, Julie W. Rutten, Manon Suerink, +3 more
29citations -
Long-term wastewater monitoring of SARS-CoV-2 viral loads and variants at the major international passenger hub Amsterdam Schiphol Airport: A valuable addition to COVID-19 surveillance2024 The Science of The Total Environment article Medicine SARS-CoV-2 detection and testing Open access
Anne-Merel R. van der Drift, Auke Haver, Astrid Kloosterman, Rudolf F.H.J. van der Beek, Erwin Nagelkerke, Dirk Eggink, +4 more
16citations -
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A. Wai, Heather Ferrao, Herma van der Linde, Evita Karelioti, +11 more
8citations