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A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids2023 Alimentary Pharmacology & Therapeutics article Medicine Lipid metabolism and disorders Open access
Carolin Victoria Schneider, Leonida Hehl, Kate Townsend Creasy, Cecilia Vitali, Mara Sophie Vell, Marijana Vujković, +11 more
11citations -
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, Heike Kölbel, David Muhmann, Ana Töpf, +10 more
1citations -
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy2022 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth A. Stafki, Elicia A. Estrella, Emily S. McGaughy, +17 more
42citations -
Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives2024 Familial Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michiel Vlaming, Margreet G.E.M. Ausems, Gina Schijven, Inge M. van Oort, C. Marleen Kets, Fenne L. Komdeur, +5 more
3citations -
Medical Records-Based Genetic Studies of the Complement System2021 Journal of the American Society of Nephrology article Immunology and Microbiology Complement system in diseases Open access
Atlas Khan, Ning Shang, Lynn Petukhova, Jun Zhang, Yufeng Shen, Scott Joseph Hebbring, +15 more
16citations -
PAV-spotter: using signal cross-correlations to identify Presence/Absence Variation in target capture data2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Manon Chantal de Visser, Chris van der Ploeg, Milena Cvijanović, Tijana Z. Vučić, Anagnostis Theodoropoulos, Ben Wielstra
4citations -
KLF18 is a necessary component of the DUX4-initiated transcriptional network and a candidate locus for phenotypic diversity2026 Genes & Development preprint Biochemistry, Genetics and Molecular Biology Kruppel-like factors research Open access
Danielle C. Hamm, Aidan B. O'Donnell, Sean R. Bennett, Richard J.L.F. Lemmers, Patrick J. van der Vliet, Silvère M. van der Maarel, +1 more
2citations -
Accurate characterization of CRISPR-Cas9 genome editing outcomes and mosaicism with near-perfect long reads2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Ida Höijer, Robin van Schendel, Anastasia Emmanouilidou, Rebecka Östlund, Ignas Bunikis, Marcel Tijsterman, +2 more
1citations -
Accurate characterization of CRISPR-Cas9 genome editing outcomes and mosaicism with near-perfect long reads2026 Genome Medicine article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Ida Höijer, Robin van Schendel, Anastasia Emmanouilidou, Rebecka Östlund, Ignas Bunikis, Marcel Tijsterman, +2 more
0citations -
Whole genome sequencing of endometrial cancer identifies novel subgroups, drivers, and actionable alterations2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Sebastian Meyer, Ben Kinnersley, Katarzyna Kedzierska, Ignacio Soriano, Eszter Lakatos, Claudia Arnedo-Pac, +26 more
0citations -
Three chromosome-scale Papaver genomes reveal punctuated patchwork evolution of the morphinan and noscapine biosynthesis pathway2021 Nature Communications article Agricultural and Biological Sciences Chromosomal and Genetic Variations Open access
Xiaofei Yang, Shenghan Gao, Li Guo, Bo Wang, Yanyan Jia, Jian Zhou, +5 more
102citations -
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges2023 Biomolecules article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Stéphanie Efthymiou, Richard J.L.F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, +13 more
23citations -
A Telomere-to-telomere Diploid Reference Genome and Centromere Structure of the Chinese Quartet2025 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Bo Wang, Peng Jia, Stephen J. Bush, Shijie Wan, Pengyu Zhang, Yuanting Zheng, +3 more
4citations -
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A2024 Journal of the Peripheral Nervous System article Neuroscience Hereditary Neurological Disorders Open access
Isaac R. L. Xu, Matt Christopher Danzi, Jacquelyn Schatzman Raposo, Yeisha Arcia de Jesus, Mary M. Reilly, Andrea Cortese, +14 more
1citations -
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy2022 European Journal of Human Genetics article Medicine Cardiomyopathy and Myosin Studies Open access
Tamara T. Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, Heleen M. van der Klift, Hassan Birjandi, Zuhair Nasser Al-Hassnan, +17 more
15citations -
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent
Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, +67 more
143citations -
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alfredo M. Valencia, Akshay Sankar, Pleuntje J. van der Sluijs, F. Kyle Satterstrom, Jack M. Fu, Michael E. Talkowski, +3 more
76citations