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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl S. Cytrynbaum, +81 more
73citations -
Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data2024 Hormone Research in Paediatrics article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Judith S. Renes, Ardine Reedijk, Monique Losekoot, Sarina G. Kant, Manouk van der Steen, Daniëlle C M van der Kaay, +2 more
12citations -
Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study2024 Research and Practice in Thrombosis and Haemostasis article Medicine Hemophilia Treatment and Research Open access
Sterre P E Willems, Annet Simons, Joline L. Saes, Marjan M. Weiss, Sanna R. Rijpma, Selene Schoormans, +10 more
11citations -
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments2024 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Bianca Zardetto, Marlen C. Lauffer, Willeke van Roon‐Mom, Annemieke M Aartsma-Rus, on behalf of the N Collaborative
7citations -
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies2024 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Isa van der Veen, Michalis Georgiou, Mary J. van Schooneveld, Jacoline B. ten Brink, Ralph J. Florijn, +5 more
6citations -
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants2024 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva, Sadegheh Haghshenas, Raissa Relator, +26 more
4citations -
Searching for Monogenic Autoimmune Etiology in Patients With Type 1 Diabetes Onset Before 30 Months of Age2025 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Diabetes and associated disorders Open access
Laura Saso-Jiménez, Inés Urrutia, Begoña Calvo Martínez, José Ramón Bilbao, Ana Lucía Gómez-Gila, Isabel Leiva Gea, +4 more
3citations -
BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKD2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Uyen Tran, Andrew J. Streets, Devon Smith, Annemarie Kirschfink, Lahoucine Izem, Jessie M Hassey, +9 more
3citations -
Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family2021 JID Innovations article Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Youssef A. Elhaji, Tessa M. A. van Henten, Claudia A. L. Ruivenkamp, Mathew Nightingale, Gijs W.E. Santen, Lydia E. Vos, +1 more
3citations -
Data from: BICC1 interacts with PKD1 and PKD2 to drive cystogenesis in ADPKD2026 DRYAD dataset Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Oliver Wessely, Uyen Tran, Andrew J. Streets, Devon Smith, Annemarie Kirschfink, Lahoucine Izem, +8 more
1citations -
Outcome after Allogeneic Stem Cell Transplant in Adults with Inherited Myeloid Malignancies - a Multicenter Retrospective Analysis on Behalf of the German Cooperative Transplant Study Group
Tim Lohmann, Matthias Stelljes, Caroline Pabst, Stefan Klein, Johanna Tischer, Alessia Fraccaroli, +13 more
0citations -
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Georgios Tachtsidis, Claudia Schob, Mahmoud Koko, Ulrike B. S. Hedrich, Holger Lerche, Johannes R. Lemke, +16 more
24citations -
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC12021 Hormone Research in Paediatrics article Medicine Telomeres, Telomerase, and Senescence Open access
Joel Riquelme, Sanami Takada, Tessa van Dijk, Merel W. Boogaard, Hermine A. van Duyvenvoorde, Ingrid Pico‐Knijnenburg, +4 more
10citations -
IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients2024 Hormone Research in Paediatrics article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Lauren D Punt, Daniëlle C M van der Kaay, Petra A. van Setten, Kirsten de Groote, Anne R Kruijsen, Gianni Bocca, +7 more
2citations -
Molecular Modeling of Protein–Peptide Complexes Mimicking Factor Xa–Prothrombin Using AlphaFold-Multimer and Molecular Dynamics Simulations for Functional Prediction2026 Journal of Chemical Information and Modeling article Medicine Blood Coagulation and Thrombosis Mechanisms
Dejvid Veizaj, David Alonzo Poole III, Ka Lei Cheung, Jos V. Flier, Pieter H. Reitsma, Daniël Verhoef, +2 more
1citations -
OC.41 Cross-trait genetic analysis reveals MEOX2 as a novel susceptibility locus shared between primary Raynaud’s phenomenon and systemic sclerosis
Carlos Rangel‐Peláez, Inmaculada Rodriguez‐Martin, Carlos Rosa-Baez, Martin Kerick, Alfredo Guillén del Castillo, Carmen Pilar Simeón‐Aznar, +19 more
0citations