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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 -
Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants2023 The Lancet Diabetes & Endocrinology article Medicine Adrenal and Paraganglionic Tumors Open access
David Taïeb, George B. Wanna, Maleeha F. Ahmad, Charlotte Lussey‐Lepoutre, Nancy D. Perrier, Svenja Nölting, +37 more
92citations -
Polygenic risk modeling for prediction of epithelial ovarian cancer risk2022 European Journal of Human Genetics article 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, Muriel A. Adank, +60 more
71citations -
Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort2025 Blood Advances article Biochemistry, Genetics and Molecular Biology Telomeres, Telomerase, and Senescence Open access
Mareike Tometten, Fabian Beier, Martin Kirschner, Yannic Schumacher, Jeanette Walter, Margherita Vieri, +20 more
16citations -
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 -
Identification of individuals at high-risk for pancreatic cancer using a digital patient-input tool combining family cancer history screening and new-onset diabetes2023 Preventive Medicine Reports article Medicine Pancreatic and Hepatic Oncology Research Open access
Derk C.F. Klatte, Kristin E. Clift, Sarah K. Mantia, Lindsey Millares, Sanne A.M. Hoogenboom, Richard John Presutti, +1 more
2citations -
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 -
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Rabea Wagener, Julia Taeubner, Carolin Walter, Layal Yasin, Deya Alzoubi, Christoph Bartenhagen, +9 more
62citations -
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences2022 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Thomas Eggermann, Elzem Yapici, Jet Bliek, Arrate Pereda, Matthias Begemann, Silvia Russo, +13 more
56citations -
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 -
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood2021 npj Genomic Medicine article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, +28 more
30citations -
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 -
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice2023 Science Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Sarah E. Sheppard, Laura M. Bryant, Rochelle N. Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, +93 more
17citations