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Imbalanced expression for predicted high-impact, autosomal-dominant variants in a cohort of 3,818 healthy samples2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Niek de Klein, Freerk van Dijk, Patrick Deelen, Carlos G. Urzúa-Traslaviña, Annique Claringbould, Urmo Võsa, +6 more
3citations -
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 , updates to tumour pathology and cancer incidences2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Andrew Lee, Nasim Mavaddat, Tim J. Carver, Stephanie Archer, Fiona Mary Walter, Marc D. Tischkowitz, +14 more
6citations -
Patient-Derived Inner Ear Organoids as a Disease Modeling and Therapy Validation Platform For Hereditary Inner Ear Disorders2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Hearing, Cochlea, Tinnitus, Genetics Open access
Esther Fousert, Winnie M. C. van den Boogaard, Amy W. A. Lucassen, Shantha D. Udayappan, Jaap Oostrik, Peter Paul G. van Benthem, +5 more
0citations -
Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
David Cheerie, Margaret M. Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, +31 more
5citations -
Delineating the molecular and phenotypic spectrum of the SETD1B -related syndrome2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, +91 more
0citations -
Polygenic Risk Modelling for Prediction of Epithelial Ovarian Cancer Risk2020 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Eileen Dareng, Jonathan P. Tyrer, Daniel R. Barnes, Michelle R. Jones, Xin Yang, Katja K.H. Aben, +86 more
3citations -
Evaluation of the X-chromosome inactivation patterns in females with Gabriele-de Vries syndrome and expansion of clinical spectrum2026 Research Square preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Bianca Mie Sato Kurashima, Laura Machado Lara Carvalho, Rafael Mina Piergiorge, S. Silveira da Costa, Suely Rodrigues dos Santos, Andressa Pereira Gonçalves, +13 more
0citations -
Distinct roles of IDR and CCD domains control PABPN1 aggregation and enable therapeutic rescue2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Milad Shademan, Iolanda Vendrell, Alberto Malerba, s Khoshbash, Sarah Flannery, March, +4 more
0citations -
Germline genetic contribution to the immune landscape of cancer2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Rosalyn W. Sayaman, Mohamad Saad, Vésteinn Thórsson, Wouter Hendrickx, Jessica P Roelands, Younes Mokrab, +18 more
21citations -
Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Epilepsy research and treatment Open access
Markus Terrey, Georgii Krivoshein, Scott I. Adamson, Elena Arystarkhova, Laura C. Anderson, John Szwec, +13 more
2citations -
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting its Protein-Protein Interactions2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Protein Tyrosine Phosphatases Open access
Sara Bobone, Luca Pannone, Barbara Biondi, Maja Šolman, Elisabetta Flex, Viviana Claudia Canale, +22 more
2citations -
T cell correction pipeline for Inborn Errors of Immunity2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Katariina Mamia, Solrun Kolbeinsdottir, Zhuokun Li, Kornel Labun, Anna Zofia Komisarczuk, Salla Keskitalo, +22 more
1citations -
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 -
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 -
Structural modelling predicts that fibrocystin destabilisation is a pathogenic cause of ARPKD2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Travis Bannell, Naveen Mathew, Kathrin Burgmaier, Max C. Liebau, Colin A. Johnson, Joseph J. B. Cockburn
0citations -
Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Myrthe R. M. Kamphof, Bodo Laube, Gijs W.E. Santen, Hanna Swaab, +1 more
0citations