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Lessons learned from the first national population-based genetic carrier-screening program for Duchenne muscular dystrophy2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Amihood Singer, Annemieke M Aartsma-Rus, Julia Grinshpun‐Cohen, Lena Sagi‐Dain
11citations -
Consanguineous couples’ experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process2023 European Journal of Human Genetics article Medicine Prenatal Screening and Diagnostics Open access
Sanne van der Hout, Anke J. Woudstra, Wybo Dondorp, Suzanne C.E.H. Sallevelt, Christine E.M. de Die-Smulders, Aimee D. C. Paulussen, +1 more
4citations -
Label-free high-throughput screening assay for the identification of norepinephrine transporter (NET/SLC6A2) inhibitors2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Receptor Mechanisms and Signaling Open access
Hubert J. Sijben, Wieke M. van Oostveen, Peter B. R. Hartog, Laura Stucchi, Andrea Rossignoli, Lia Scarabottolo, +2 more
13citations -
Strong Polar Optical Phonon Screening and Softening Enhance the Thermoelectric Performance of Zintl Compounds2025 Advanced Energy Materials article Materials Science Advanced Thermoelectric Materials and Devices Open access
Muchun Guo, Ming Liu, Donglin Yuan, Qinyong Zhang, Yuke Zhu, Fengkai Guo, +2 more
25citations -
Advancing drug discovery through assay development: a survey of tool compounds within the human solute carrier superfamily2024 Frontiers in Pharmacology article Medicine Drug Transport and Resistance Mechanisms Open access
Daniela Digles, Álvaro Inglés‐Prieto, Vojtech Dvorak, Tamara A. M. Mocking, Ulrich Goldmann, Andrea Garofoli, +28 more
12citations -
Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners2022 European Journal of Human Genetics article Medicine Hemoglobinopathies and Related Disorders Open access
Margo E. van Vliet, Jean‐Louis Kerkhoffs, Cornelis L. Harteveld, Elisa J. F. Houwink
6citations -
The supplemental value of mammographic screening over breast MRI alone in BRCA2 mutation carriers2020 Breast Cancer Research and Treatment article Medicine Digital Radiography and Breast Imaging Open access
Inge-Marie Obdeijn, Ritse M. Mann, Claudette E. Loo, Marc B. I. Lobbes, Eleonora M. C. Voormolen, Carolien H. M. van Deurzen, +2 more
14citations -
Targeted Prostate Cancer Screening in Carriers of BRCA1 or BRCA2 Pathogenic Germline Variants Detects Clinically Relevant Disease: 5-year Results from the IMPACT Study
Elizabeth Kathryn Bancroft, Elizabeth C. Page, Jana Kathlyn McHugh, Sarah Thomas, Natalie Taylor, Jennifer Pope, +93 more
7citations -
Optimal Screening for Hereditary Head and Neck Paraganglioma in Asymptomatic SDHx Variant Carriers in the Netherlands2024 Journal of Neurological Surgery Part B Skull Base article Medicine Adrenal and Paraganglionic Tumors Open access
Anouk Frederique Heesters, Carli M.J. Tops, Thomas P. Potjer, Eleonora P.M. Corssmit, Jean‐Pierre Bayley, Erik Frans Hensen, +1 more
0citations -
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent
Pablo Beckers, Jean‐Hubert Caberg, Vinciane Dideberg, Tamara Dangouloff, Johan T. den Dunnen, Vincent Bours, +2 more
19citations -
MRI screening in hereditary pancreatic cancer: value of various sequences in the detection of early pancreatic cancer2020 Annals of Pancreatic Cancer article Medicine Pancreatic and Hepatic Oncology Research Open access
Bas Boekestijn, Shirin Feshtali, Arnoud C. Meijer, Isaura S. Ibrahim, Arantza Fariña Sarasqueta, Akin Inderson, +4 more
4citations -
The TESTBREAST journey: Revisiting the importance of early detection by frequent screening of women at high risk of breast cancer2025 International Journal of Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Layla Andour, Sophie C. Hagenaars, Kiki M. H. Vangangelt, Janneke Aalberts, Valerie Rebattu, Elma Meershoek‐Klein Kranenbarg, +4 more
0citations -
Systematic cRPA study of two-dimensional MA2Z4 materials: from unconventional screening to correlation-driven instabilities2025 npj Computational Materials article Materials Science 2D Materials and Applications Open access
F. Bagherpour, Y. Yekta, H. Hadipour, E. Şaşıoğlu, Ali Khademi, S. A. Jafari, +2 more
3citations -
Screening, diagnosis and follow-up of Brugada syndrome in children: a Dutch expert consensus statement2022 Netherlands Heart Journal article Medicine Cardiac electrophysiology and arrhythmias Open access
Puck J. Peltenburg, Yvonne M. Hoedemaekers, S. A. Clur, Nico A. Blom, Andreas C. Blank, Ewout P. Boesaard, +4 more
18citations -
A study of the dopamine transporter using the TRACT assay, a novel in vitro tool for solute carrier drug discovery2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Receptor Mechanisms and Signaling Open access
Hubert J. Sijben, Julie J. E. van den Berg, Jeremy D. Broekhuis, Adriaan P. IJzerman, Laura H. Heitman
16citations -
A Large‐Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands2020 Movement Disorders article Medicine Lysosomal Storage Disorders Research Open access cited by 2 patents
Jonas M. den Heijer, Valerie Cullen, Marialuisa Quadri, Arnoud Schmitz, Dana C. Hilt, Peter T. Lansbury, +17 more
75citations -
How Photoinduced Gate Screening and Leakage Currents Dynamically Change the Fermi Level in 2D Materials2020 physica status solidi (RRL) - Rapid Research Letters article Materials Science 2D Materials and Applications Open access
Frank Volmer, Manfred Ersfeld, Lars Rathmann, Maximilian Heithoff, Luca Kotewitz
0citations -
The hemoglobinopathies, molecular disease mechanisms and diagnostics2022 International Journal of Laboratory Hematology article Medicine Hemoglobinopathies and Related Disorders Open access
Cornelis L. Harteveld, Ahlem Achour, Sandra G.J. Arkesteijn, Jeanet ter Huurne, Maaike Verschuren, Sharda Bhagwandien‐Bisoen, +4 more
104citations -
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 -
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature2020 Journal of Child Neurology article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Marieke G. Peetsold, Susan M. I. Goorden, Martijn H. Breuning, Monique Williams, Jaap Adriaan Bakker, Ed H. Jacobs, +2 more
14citations