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Individualised progesterone receptor modulator prevention strategies for triple-negative breast cancer in BRCA1 pathogenic variant carriers2026 npj Breast Cancer review Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Martin Widschwendter, Rita Schmutzler, Nora Pashayan, Jelle Wesseling, Marc D. Tischkowitz, Michal Zikan, +22 more
0citations -
A multilevel perspective on MSH6 ‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights2026 International Journal of Cancer review Medicine Genetic factors in colorectal cancer Open access
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman
3citations -
Complement activation in secondary thrombotic microangiopathies2025 Nephrology Dialysis Transplantation review Immunology and Microbiology Complement system in diseases Open access
Johann Morelle, Fernando Caravaca‐Fontán, Fádi Fakhouri, Eleni A. Frangou, Annette N. Bruchfeld, Jürgen Floege, +9 more
21citations -
The Feasibility of Implementing Mainstream Germline Genetic Testing in Routine Cancer Care—A Systematic Review2022 Cancers review Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Kyra Bokkers, Michiel Vlaming, Ellen G. Engelhardt, Ronald Peter Zweemer, Inge M. van Oort, Lambertus A.L.M. Kiemeney, +2 more
82citations -
Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas2021 Clinical Gastroenterology and Hepatology review Medicine Genetic factors in colorectal cancer Open access
Ellis L. Eikenboom, A. Lam, Mar Rodríguez‐Girondo, Christi J. van Asperen, Winand N.M. Dinjens, Robert M.W. Hofstra, +5 more
46citations -
Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis2021 Gynecologic Oncology review Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Vera M. Witjes, Majke H.D. van Bommel, Marjolijn J. L. Ligtenberg, Janet R. Vos, Marian J.E. Mourits, Margreet G.E.M. Ausems, +2 more
44citations -
Disease modifying treatment of hereditary transthyretin amyloidosis with polyneuropathy in Germany – expert consensus of the German society of amyloid diseases (DGAK) and the German neurological society (DGN)2026 Neurological Research and Practice review Medicine Amyloidosis: Diagnosis, Treatment, Outcomes Open access
Markus Weiler, Maike Franziska Dohrn, Stefan Gingele, Thomas Skripuletz, Matthias Schilling, Tim Hagenacker, +9 more
2citations -
Individualized antisense oligonucleotide treatment eligibility of patients living with neurodevelopmental diseases2026 Cell Reports Medicine review Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Annemieke M Aartsma-Rus, Claudio Melo de Gusmão, Scott Demarest, Willeke van Roon‐Mom, Holm Graessner, Lynn Wein Bush, +4 more
1citations -
Signs and symptoms of carriers of non- DMD X-linked neuromuscular diseases: A scoping review2025 Journal of Neuromuscular Diseases review Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Joep Simons, A.J.R. De Bie Dekker, Rosanne Govaarts, Anna Sárközy, Christian Windpassinger, Saskia L.S. Houwen-van Opstal, +1 more
1citations -
A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders2026 Journal of Inherited Metabolic Disease review Medicine Lysosomal Storage Disorders Research Open access
Éamon P McCarron, Nenad Blau, Emily R. Eden, Frances M. Platt, Johannes M. F. G. Aerts, Simon Allan Jones, +2 more
0citations -
12589 Two Systematic Reviews Of Treatment Efficacy On Patient Important Outcomes In Adult X-linked Hypophosphatemia2024 Journal of the Endocrine Society review Medicine Parathyroid Disorders and Treatments Open access
Dalal S. Ali, Reza Donald Mirza, Farah Alsarraf, Salma Hussein, Natasha M. Appelman‐Dijkstra, Signe Sparre Beck‐Nielsen, +18 more
0citations
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