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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy2020 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent
Pietro Spitali, Irina T. Zaharieva, Stefan Böhringer, Monika Hiller, Amina Chaouch, Andreas Roos, +17 more
43citations -
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature2021 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Sulagna Tina Kushary, Anya Revah‐Politi, Subit Barua, Mythily Ganapathi, Andrea Accogli, Vimla S. Aggarwal, +25 more
29citations -
Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I2025 The Journal of Clinical Endocrinology & Metabolism article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Lauren D Punt, Sander Kooijman, Noa J M Mutsters, Kaiming Yue, Daniëlle C M van der Kaay, Vera van Tellingen, +23 more
16citations -
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction2020 Frontiers in Molecular Biosciences article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Rick A.C.M. Boonen, Maaike P.G. Vreeswijk, Haico van Attikum
16citations -
Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin2024 Nephrology Dialysis Transplantation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Amber de Haan, Mark Eijgelsheim, Liffert Vogt, Ewout Jasper Hoorn, Joris I. Rotmans, Gijs Fortrie, +13 more
13citations -
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism2025 Annals of Neurology article Biochemistry, Genetics and Molecular Biology Autophagy in Disease and Therapy Open access
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, +91 more
12citations -
Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study2025 BJOG An International Journal of Obstetrics & Gynaecology article Medicine Cardiovascular Issues in Pregnancy Open access
Lisa M. van den Bersselaar, Ingrid M.B.H. van de Laar, Marieke J.H. Baars, Annette F. Baas, Eelco Dulfer, A.T.J.M. Helderman-van den Enden, +8 more
12citations -
Autonomous B-cell receptor signaling and genetic aberrations in chronic lymphocytic leukemia-phenotype monoclonal B lymphocytosis in siblings of patients with chronic lymphocytic leukemia
Edwin Quinten, Julieta Sepúlveda-Yáñez, Marvyn T. Koning, Janneke A. Eken, Dietmar Pfeifer, Valeri Nteleah, +15 more
11citations -
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature2022 Journal of the Endocrine Society article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Peter Lauffer, Eveline Boudin, Daniëlle C M van der Kaay, Saskia Koene, Arie van Haeringen, Vera van Tellingen, +5 more
11citations -
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Lisa M. van den Bersselaar, Judith M. A. Verhagen, Jos A. Bekkers, Marlies J. E. Kempers, Arjan C. Houweling, Marieke J.H. Baars, +13 more
6citations -
Elevated Plasma Complement Factors in CRB1 -Associated Inherited Retinal Dystrophies2025 Investigative Ophthalmology & Visual Science article Medicine Retinal Development and Disorders Open access
Lude Moekotte, Joke Helena de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan‐Thanh‐An Nguyen, Carel B. Hoyng, +28 more
5citations -
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context2023 Research Square preprint 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
4citations -
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism2025 European Journal of Medical Genetics article Neuroscience Hereditary Neurological Disorders Open access
Barbora Lauerová, Radim Mazanec, Katja Eggermann, Dana Šafka Brožková, Annette Lischka, Pavel Seeman, +2 more
2citations -
Analysis of BRCA1 , BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Sharon E. Johnatty, Emma Tudini, Michael T. Parsons, Kyriaki Michailidou, Maria Zanti, Daffodil M. Canson, +54 more
1citations