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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elisa Calì, Mohnish Suri, Marcello Scala, Matteo Paolo Ferla, Shahryar Alavi, Eissa Faqeih, +60 more
9citations -
Identification of pathogenic ACAN variants in healthy children with normal height and advanced bone age2025 Journal of Pediatric Endocrinology and Metabolism article Medicine Growth Hormone and Insulin-like Growth Factors
María Isabel Hernández, Vivian Gallardo, Nancy Unanue, Hermine A. van Duyvenvoorde, Verónica Mericq G
0citations -
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Hongyan Li, Christoph Engel, Miguel de la Hoya, Paolo Peterlongo, Drakoulis Yannoukakos, Luca Livraghi, +55 more
32citations -
High-Grade Serous Carcinoma at Risk-Reducing Salpingo-Oophorectomy in Asymptomatic Carriers of BRCA1/2 Pathogenic Variants: Prevalence and Clinical Factors2023 Journal of Clinical Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Iris A.S. Stroot, Joost Bart, Harry Hollema, Denise J. Stommel-Jenner, Marise M. Wagner, Helena C. van Doorn, +15 more
15citations -
Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers in two large cohort studies2026 BJC Reports article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Isaac Allen, Nancy Whish, Siddhartha Yadav, Nicholas James Boddicker, Caroline A. Drukker, Irma van de Beek, +8 more
0citations -
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants2020 Journal of Medical Genetics article Medicine Pancreatic and Hepatic Oncology Research Open access
Kasper A. Overbeek, Mar D M Rodríguez-Girondo, Anja Wagner, Nienke van der Stoep, Peter C. van den Akker, Jan C. Oosterwijk, +7 more
31citations -
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants2025 Journal of the American Society of Nephrology article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Tabinda Jawaid, Doaa E. Elbarougy, Sravanthi Lavu, Guillaume Buia, Sarah R. Senum, Eric Gregory Olinger, +33 more
16citations -
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome2025 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Emilia D’Angelo, Laura Pignata, Francesco Cecere, Alessandro Vimercati, Maria Vittoria Cubellis, Abu Saadat, +9 more
2citations -
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton’s tyrosine kinase case-study2023 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lucía del Pino Molina, Yolanda Soto Serrano, Keren Reche Yebra, J. Marty Lobo, B. González Martínez, María Bravo García‐Morato, +3 more
4citations -
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 -
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 -
Preclinical validation of PKC412 as a therapy candidate for epidermolysis bullosa simplex across multiple keratin pathogenic variants2025 British Journal of Dermatology article Biochemistry, Genetics and Molecular Biology Skin and Cellular Biology Research Open access
Henriette Jopp, A Kraft, Bernd Hoffmann, Rudolf Merkel, M. Bishr Omary, Cristina Has, +2 more
3citations -
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Sarah R. Senum, Ying Li, Katherine Angela Benson, Giancarlo Joli, Eric Gregory Olinger, Sravanthi Lavu, +22 more
180citations -
Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data2024 Hormone Research in Paediatrics article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Judith S. Renes, Ardine Reedijk, Monique Losekoot, Sarina G. Kant, Manouk van der Steen, Daniëlle C M van der Kaay, +2 more
12citations -
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)2021 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas Janecke, +34 more
43citations -
Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer2022 Annals of Oncology article Medicine PARP inhibition in cancer therapy Open access cited by 1 patent
Charles E. Geyer, Judy Ellen Garber, Richard D. Gelber, Greg Yothers, L. Ross, Priya Rastogi, +90 more
473citations -
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK22024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Snežana Hinić, Cezary Cybulski, Rachel S. van der Post, Janet R. Vos, Janneke H. M. Schuurs-Hoeijmakers, Fulvia Brugnoletti, +23 more
15citations -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification2025 Nature Communications article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas James Boddicker, +87 more
11citations -
Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences2021 Hereditary Cancer in Clinical Practice article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mary E. Velthuizen, Rob B. van der Luijt, B.J. de Vries, Marco J. Koudijs, Eveline M. A. Bleiker, Margreet G.E.M. Ausems
9citations -
Efficacy of BRAF and MEK Inhibition in Patients with BRAF-Mutant Advanced Melanoma and Germline CDKN2A Pathogenic Variants2021 Cancers article Biochemistry, Genetics and Molecular Biology Melanoma and MAPK Pathways Open access
Francesco Spagnolo, Bruna Dalmasso, Enrica T. Tanda, Míriam Potrony, Susana Puig, Remco van Doorn, +4 more
9citations