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Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study
Chrysanthi Kouri, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Grit Sommer, Kay‐Sara Sauter, Christa E. Flück, +66 more
12citations -
Cytopenia, Hypocellular Bone Marrow, and Shortened Telomere Length Beyond Biallelic Telomere Biology Gene Mutations2026 Pediatric Blood & Cancer article Biochemistry, Genetics and Molecular Biology Telomeres, Telomerase, and Senescence
Giovanni Franco, Lucia Pia Bruno, Antonio Maria Alviano, Lucia Vankann, Tim H. Brümmendorf, Fabiola Guerra, +9 more
0citations -
Outer Pore Collapse as a Potential Mechanism of Partial Loss of Pain in Nav1.7 M899I2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Vishal Sudha Bhagavath Eswaran, Estefania Torres-Ortiz, Petra A. I. Hautvast, Amdiya Botchoi, Silvia Detro‐Dassen, Anika Neureiter, +3 more
0citations -
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development2024 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Lloyd J. W. Tack, Martine Cools, +67 more
42citations -
Modulating effects of FGF12 variants on Na V 1.2 and Na V 1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie T. van der Ven, +5 more
2citations -
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 -
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls2023 Frontiers in Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Maria A. Loizidou, Denise G O'Mahony, Leila Dorling, Joe Dennis, Peter Devilee, +4 more
2citations -
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort2023 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
0citations -
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies2026 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elsa Leitão, Amandine Santini, Benjamin Cogné, Miriam Essid, Maria Athanasiadou, Christy W. LaFlamme, +94 more
24citations -
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 -
Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non‐high‐grade serous ovarian carcinomas2023 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Claire J.H. Kramer, Lieke Lanjouw, Dina Ruano, Arja ter Elst, Giacomo Santandrea, Nienke Solleveld‐Westerink, +13 more
8citations -
Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene2023 Frontiers in Oncology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Richa Sharma, Ninad Oak, Wenan Chen, Rose A. Gogal, Martin Kirschner, Fabian Beier, +4 more
5citations -
Deciphering DST -associated disorders: biallelic variants affecting DST-b cause a congenital myopathy2025 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Melanie T. Achleitner, +47 more
3citations -
RBMX functional retrocopy safeguards brain development in a species-dependent context2026 Brain article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Pierre Tilliole, Carolin Mattausch, Peggy Tilly, Elsa Leitão, Lucile Boutaud, Daphné Lehalle, +44 more
0citations -
monarch-initiative/mondo: v2026-10-062026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, MeeSiing Ngu, Trish Whetzel, +21 more
0citations -
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 222023 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Sylvia A. Koza, Anne Claude Tabet, María Clara Bonaglia, Stephanie Andres, Britt‐Marie Anderlid, Emmelien Aten, +4 more
16citations