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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
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 -
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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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
0citations -
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 -
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
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