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A prospective matched case-control study on the genomic epidemiology of colistin-resistant Enterobacterales from Dutch patients2022 Communications Medicine article Biochemistry, Genetics and Molecular Biology Antibiotic Resistance in Bacteria Open access
Karuna E.W. Vendrik, Angela de Haan, Sandra Witteveen, Antoni P. A. Hendrickx, Fabian Landman, Daan W. Notermans, +28 more
8citations -
CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Ida Höijer, Anastasia Emmanouilidou, Rebecka Östlund, Robin van Schendel, Selma Bozorgpana, Lars Feuk, +3 more
0citations -
Diagnostic Yield of Massively Parallel Sequencing in Patients With CKD of Unknown Etiology: The Dutch Nationwide Prospective VARIETY Cohort Study2022 Journal of the American Society of Nephrology conference-abstract Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Amber de Haan, Mark Eijgelsheim, Liffert Vogt, Ewout Jasper Hoorn, Joris I. Rotmans, Albertien M. van Eerde, +2 more
0citations -
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands2023 Molecular Syndromology article Biochemistry, Genetics and Molecular Biology Cleft Lip and Palate Research Open access
Lisca Wurfbain, Inge L Cox, M. F. van Dooren, Augusta M.A. Lachmeijer, Virginie J. M. Verhoeven, Johanna M. van Hagen, +8 more
9citations -
Identifying signs and symptoms of AL amyloidosis in electronic health records using natural language processing, diagnosis codes, and manually abstracted registry data2023 American Journal of Hematology article Biochemistry, Genetics and Molecular Biology Amyloidosis: Diagnosis, Treatment, Outcomes Open access
Eli Silvert, Laura Hester, Eshwan Ramudu, Colin Pawlowski, Britte Kranenburg, Francis K. Buadi, +7 more
5citations -
WALDO: community-Wide Annotation of γδ Lymphocytes in single-cell Data, Openly benchmarked2026 Zenodo (CERN European Organization for Nuclear Research) preprint Biochemistry, Genetics and Molecular Biology Single-cell and spatial transcriptomics Open access
Farid Keramati, Moosa Rezwani, Likai Tan, David Hamilton, Zheng Song, Tao Yang, +10 more
0citations -
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping2023 Neurology Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Naga Guruju, Vanessa Jump, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Ruby Liu, Babi Ramesh Reddy Nallamilli, +6 more
23citations -
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel2023 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Hagai Levi, Shai Carmi, Saharon Rosset, Rinat Yerushalmi, Aviad Zick, Tamar Yablonski‐Peretz, +91 more
4citations -
Development of a telomere vector‐based approach to overcome limitations caused by lethal phenotypes in the study of essential genes in Magnaporthe oryzae2024 Molecular Plant Pathology article Biochemistry, Genetics and Molecular Biology Fungal and yeast genetics research Open access
Louisa Wirtz, Florencia Casanova, Ulrich Schaffrath, Alex Wegner
3citations -
Targeted VNTR long read sequencing resolves a diagnostic bottleneck in ADTKD and detects de novo ADTKD-MUC12026 Kidney International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrea Wenzel, Björn Reusch, Karl Xaver Knaup, Nikola Zagorec, Margareta Fištrek Prlić, Kerstin Becker, +8 more
1citations -
Abstract P5-15-02: The risk for locoregional breast cancer recurrences: Significant differences in perceptions among health care professionals (HCPs)2022 Cancer Research conference-abstract Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies
Jet Wies Ankersmid, Pauline E. R. Spronk, Anneke M. Zeillemaker, Sabine Siesling
0citations -
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year’s Journey2020 Journal of Neuromuscular Diseases article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Leroy ten Dam, Marianne de Visser, Ieke B. Ginjaar, Hermine A. van Duyvenvoorde, Silvana van Koningsbruggen, Anneke J. van der Kooi
5citations -
TEAD4 regulates trophectoderm differentiation upstream of CDX2 in a GATA3-independent manner in the human preimplantation embryo2022 Human Reproduction article Biochemistry, Genetics and Molecular Biology Developmental Biology and Gene Regulation Open access
Panagiotis Stamatiadis, Gwenny Cosemans, Annekatrien Boel, Björn Menten, Petra De Sutter, Dominic Stoop, +4 more
37citations -
Haplomics: A Snakemake pipeline for haplotype-based association analysis in multi-omics studies2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Dariush Ghasemi-Semeskandeh, Luisa Foco, Ryosuke Fujii, Johannes Rainer, Mohadeseh Feli, Markus Ralser, +3 more
0citations -
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach2023 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Larissa Bilo, Eguzkine Ochoa, Sunwoo Liv Lee, Daniela Dey, Ingo Kurth, Florian Kraft, +10 more
15citations -
Microfragmented Fat and Biphasic Calcium Phosphates for Alveolar Cleft Repair: Protocol for a Prospective, Nonblinded, First-in-Human Clinical Study2024 JMIR Research Protocols article Biochemistry, Genetics and Molecular Biology Cleft Lip and Palate Research Open access
Diandra Sabrina Natsir Kalla, Salem Alkaabi, Abul Fauzi, Andi Tajrin, Rifaat Nurrahma, Wernér E.G. Müller, +5 more
4citations -
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements2021 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Craniofacial Disorders and Treatments Open access
Vanessa Luiza Romanelli Tavares, Sofia Ligia Guimarães-Ramos, Yan Zhou, Cibele Masotti, Suzana Ezquina, Danielle de Paula Moreira, +5 more
8citations -
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer2022 Hereditary Cancer in Clinical Practice article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Beverley Speight, Ellen Colvin, E. D. Epurescu, James Drummond, Senno Verhoef, Mariana Buongermino Pereira, +2 more
7citations -
Methylome profiling of cell-free DNA during the early life course in (un)complicated pregnancies using MeD-seq: Protocol for a cohort study embedded in the prospective Rotterdam periconception cohort2025 PLoS ONE article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Marjolein M. van Vliet, Sam Schoenmakers, Ruben Boers, Lotte E. van der Meeren, Joost H. Gribnau, Régine P.M. Steegers‐Theunissen
6citations -
Fast model-free standardization and integration of single-cell transcriptomics data2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Single-cell and spatial transcriptomics Open access
Yang Xu, Rafael Kramann, Rachel Patton McCord, Sikander Hayat
0citations
23 results