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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 -
Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma2020 The Journal of Clinical Endocrinology & Metabolism article Medicine Adrenal and Paraganglionic Tumors Open access
Alexandre Buffet, Juan Zhang, Heggert G. Rebel, Eleonora P.M. Corssmit, Jeroen C. Jansen, Erik Frans Hensen, +7 more
11citations -
Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation2022 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Nel Dąbrowska-Leonik, Agata Karolina Pastorczak, Katarzyna Bąbol‐Pokora, Katarzyna Bernat-Sitarz, Barbara Piątosa, Edyta Heropolitańska–Pliszka, +6 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 -
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function2023 Journal of Translational Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Rocío Blanco-Garavito, Laurie L. Molday, Claire‐Marie Dhaenens, Eric E. Souied, Gerard J. Platenburg, +3 more
10citations -
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort2023 Journal of Neuromuscular Diseases article Medicine Neurogenetic and Muscular Disorders Research Open access
Stephanie Kleinle, Veronika Scholz, Anna Benet‐Pagès, Tobias Wohlfrom, Stefanie Gehling, Florentine Scharf, +19 more
9citations -
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps2022 European Journal of Endocrinology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Verónica Mericq G, Isabel Huang‐Doran, Dhekra Alnaqeb, Javiera Basaure, Claudia Castiglioni T, Christiaan de Bruin, +7 more
8citations -
Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder2024 Ophthalmic Genetics article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Jessica S. Karuntu, Femke C. C. Klouwer, Marc Engelen, Camiel J. F. Boon
5citations -
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa2024 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Katherine Whiting, Lonneke Haer‐Wigman, Ralph J. Florijn, Ronald van Beek, Machteld M. Oud, Astrid S. Plomp, +3 more
3citations -
Neuroanatomical anomalies due to a defect in the FGF3 gene, associated with the Labyrinthine Aplasia, Microtia and Microdontia syndrome: insights from the placement of auditory brainstem implants in two siblings2024 Therapeutic Advances in Rare Disease article Neuroscience Hearing Loss and Rehabilitation Open access
Johan H. M. Frijns, M. G. S. Geerders, Esther Scholing, Berit M. Verbist, Radboud W. Koot, Martijn J. A. Malessy, +2 more
1citations -
FOXN1 immunodeficiency detected by TREC-based newborn screening - A challenge of management?2026 Immunology Letters article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lea Graafen, Arndt Borkhardt, Julian Reiß, Stavrieta Soura, Hans‐Jürgen Laws, Markus Uhrberg, +5 more
1citations -
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zheng Yie Yap, Stéphanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca, +34 more
34citations -
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort2021 Journal of the Neurological Sciences article Neuroscience Hereditary Neurological Disorders Open access
Vívian Pedigone Cintra, Maike Franziska Dohrn, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, Sandra Elisabete Marques, Sarah Camargos, +6 more
12citations