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Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Myrthe R. M. Kamphof, Bodo Laube, Gijs W.E. Santen, Hanna Swaab, +1 more
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Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2026 Figshare other Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, Bodo Laube, +3 more
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Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2026 Acta Neuropathologica Communications article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, Bodo Laube, +3 more
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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 -
Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ramy Saad, Clementina Cobolli Gigli, Pleuntje J. van der Sluijs, Jon R. Wilson, Tzung‐Chien Hsieh, Vivienne P. M. McConnell, +20 more
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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
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Additional file 1 of Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2026 Figshare article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, Bodo Laube, +3 more
0citations -
Additional file 1 of Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2026 Figshare article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, Bodo Laube, +3 more
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Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases2020 Science Advances article Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
Lucija Klarić, Yakov A. Tsepilov, Chloë M. Stanton, Massimo Mangino, Timo Tõnis Sikka, Tõnu Esko, +47 more
146citations -
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 222023 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Sylvia A. Koza, Anne Claude Tabet, María Clara Bonaglia, Stephanie Andres, Britt‐Marie Anderlid, Emmelien Aten, +4 more
16citations -
The genetics and epidemiology of N- and O-immunoglobulin A glycomics2024 Genome Medicine article Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
Alessia Visconti, Niccolò Rossi, Albert Bondt, Agnes L. Hipgrave Ederveen, Gaurav Thareja, Carolien A. M. Koeleman, +8 more
10citations -
The genetics and epidemiology of N- and O- IgA glycomics2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
Alessia Visconti, Niccolò Rossi, Albert Bondt, Agnes L. Hipgrave Ederveen, Gaurav Thareja, Carolien A. M. Koeleman, +8 more
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Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals2023 Human Genetics article Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access
Ariane Schmetz, Hermann‐Josef Lüdecke, Harald Surowy, Sugirthan Sivalingam, Ange‐Line Bruel, Roseline Caumes, +44 more
23citations -
monarch-initiative/mondo: v2026-09-012026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, MeeSiing Ngu, Trish Whetzel, +21 more
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monarch-initiative/mondo: v2026-10-062026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, MeeSiing Ngu, Trish Whetzel, +21 more
0citations
19 results