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Multiple Mutations—A Genetic Marker for Extracapsular Spread in Human Papillomavirus/p16‐Positive Oropharyngeal Carcinoma2025 Laryngoscope Investigative Otolaryngology article Medicine Head and Neck Cancer Studies Open access
Raphaela Graessle, Iris Piwonski, Cora C. Husemann, Karsten Kleo, Deema Sabtan, Achim M. Franzen, +4 more
2citations -
GPS1 Exon 9 Mutations Represent a Rare Genetic Event in Penile Squamous Cell Carcinoma Pathogenesis2026 International Journal of Molecular Sciences article Medicine Genital Health and Disease Open access
Lars Tögel, Felix Elsner, Olaf Wendler, Johannes Giedl, Nadine Therese Gaisa, Georg Richter, +6 more
0citations -
High serum ferritin is associated with genetic instability in myelodysplastic neoplasms2026 Journal of Cancer Research and Clinical Oncology article Medicine Acute Myeloid Leukemia Research Open access
Christina Ganster, Hannes Treiber, Gina Westhofen, Fabian Beier, Tienush Rassaf, Haifa Kathrin Al‐Ali, +8 more
0citations -
SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome2022 The American Journal of Surgical Pathology article Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access
Uwe Kordes, Antje Redlich, Kristian W. Pajtler, Felix Sahm, Stefan M. Pfister
7citations -
ATRT-08. SMARCB1- and SMARCA4-deficient malignant brain tumors with complex copy number alterations andTP53 mutations may represent the first clinical manifestation of Li-Fraumeni syndrome2022 Neuro-Oncology conference-abstract Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access
Martin Hasselblatt, Christian Thomas, Aniello Federico, Karolina Nemes, Pascal David Johann, Brigitte Bison, +19 more
0citations -
Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts2023 European Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access
Andrea Cortese, Riccardo Curró, Riccardo Ronco, Julian C. Blake, Alexander Martin Rossor, Enrico Bugiardini, +10 more
12citations -
Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel L2HGDH Mutation with a Concurrent RYR1 Variant2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zahra Beyzaei, Seyed Mohsen Dehghani, Bita Geramizadeh, Ralf Weiskirchen
0citations -
Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases2023 Frontiers in Chemistry article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Francesco Oliva, Francesco Musiani, Alejandro Giorgetti, Silvia De Rubeis, Oksana Sorokina, J. Douglas Armstrong, +2 more
1citations -
Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, +15 more
3citations -
Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex2025 Journal of Chemical Information and Modeling article Medicine Cardiomyopathy and Myosin Studies Open access
Song Xie, Ke Zuo, Silvia De Rubeis, Giorgio Bonollo, Giorgio Colombo, Paolo Ruggerone, +1 more
2citations -
Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology RNA modifications and cancer Open access
Francesco Oliva, Francesco Musiani, Alejandro Giorgetti, Silvia De Rubeis, Oksana Sorokina, J. Douglas Armstrong, +2 more
0citations -
Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy2021 Annals of Clinical and Translational Neurology article Medicine Epilepsy research and treatment Open access
Stefan Wolking, Claudia Moreau, Mark McCormack, Roland Krause, Martin Krenn, Samuel Frank Berkovic, +18 more
26citations -
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update2022 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Amyloidosis: Diagnosis, Treatment, Outcomes Open access cited by 1 patent
Angela A. Dispenzieri, Teresa Coelho, Isabel M. Conceição, Márcia Waddington‐Cruz, Jonas Wixner, Arnt V. Kristen, +77 more
93citations -
P169 Childhood onset amyotrophic lateral sclerosis associated with SPTLC2 gain-of-function pathogenic variants: clinical, genetic, and biochemical insights2023 Neuromuscular Disorders conference-abstract Medicine Neurogenetic and Muscular Disorders Research
Robert Bach, Safoora B. Syeda, Payam Mohassel, Maike Franziska Dohrn, Museer A. Lone, Sandra C. Donkervoort, +11 more
1citations