Not finding it? Sign in to also search OpenAlex live.
-
Cancer worry among BRCA1/2 pathogenic variant carriers choosing surgery to prevent tubal/ovarian cancer: course over time and associated factors2022 Supportive Care in Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Majke H.D. van Bommel, Miranda P. Steenbeek, Joanna IntHout, Rosella Hermens, Marline G. Harmsen, Helena C. van Doorn, +14 more
10citations -
Pancreatic cancer surveillance: Risk stratification of individuals with a germline CDKN2A pathogenic variant2024 United European Gastroenterology Journal article Medicine Pancreatic and Hepatic Oncology Research Open access
Derk C.F. Klatte, Jihane Meziani, Djuna L. Cahen, Merel van Diepen, Marco J. Bruno, Monique Esther van Leerdam
6citations -
High-grade serous carcinoma occurring after risk-reducing salpingo-oophorectomy in BRCA1/2 germline pathogenic variant carriers2024 JNCI Journal of the National Cancer Institute article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Iris A.S. Stroot, Joost Bart, Harry Hollema, Marise M. Wagner, Refika Yigit, Helena C. van Doorn, +13 more
5citations -
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant2024 Familial Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anke M. Onnekink, Derk C.F. Klatte, Jeanin Elise van Hooft, S. H. van den Berg, S. M. S. van der Zwaan, Remco van Doorn, +4 more
4citations -
Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives2024 Familial Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michiel Vlaming, Margreet G.E.M. Ausems, Gina Schijven, Inge M. van Oort, C. Marleen Kets, Fenne L. Komdeur, +5 more
3citations -
Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers2024 Gynecologic Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Iris A.S. Stroot, Joost Bart, Harry Hollema, Mathilde Jalving, Marise M. Wagner, Refika Yigit, +21 more
2citations -
Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant2025 Molecular Genetics & Genomic Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anke M. Onnekink, Derk C.F. Klatte, Jeanin Elise van Hooft, S. H. van den Berg, S. M. S. van der Zwaan, Remco van Doorn, +4 more
2citations -
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence2020 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Christian Thomas Hübner, Robert Meyer, Asmaa Kenawy, Laima Ambrozaitytė, Aušra Matulevičienė, Florian Kraft, +3 more
27citations -
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
Mev Dominguez–Valentin, Saskia Haupt, Toni T. Seppälä, Julian R. Sampson, Lone Sunde, Inge Bernstein, +93 more
123citations -
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes2023 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Maria Sáez González, Kes Kloosterhuis, Laura A. van de Pol, Frank F. Baas, Harald M. M. Mikkers
18citations -
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, +58 more
9citations -
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Benjamin Billiet, Patrizia Amati‐Bonneau, Valérie Desquiret‐Dumas, Khadidja Guehlouz, Dan Miléa, Philippe Gohier, +5 more
20citations -
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dmitrijs Rots, Sanaa Choufani, Víctor Faùndes, Alexander J.M. Dingemans, Shelagh K. Joss, Nicola C. Foulds, +91 more
29citations -
Additional file 1 of Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna‐Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
0citations -
Additional file 1 of Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
0citations -
Variant mapping using mass spectrometry–based proteotyping as a diagnostic tool in von Willebrand disease2024 Journal of Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
Iris charlotte Kreft, Tirsa T van Duijl, Calvin B. van Kwawegen, Ferdows Atiq, Winny Phan, Margo B. P. Schuller, +8 more
11citations -
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism2024 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Maike Franziska Dohrn, Güney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, +6 more
3citations -
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Michael G. Anderson, Windy Berkofsky‐Fessler, +37 more
101citations -
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature2020 Journal of Child Neurology article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Marieke G. Peetsold, Susan M. I. Goorden, Martijn H. Breuning, Monique Williams, Jaap Adriaan Bakker, Ed H. Jacobs, +2 more
14citations