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Papers per year
Papers 104
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P106: Expanding the clinical and molecular spectrum of Pilarowski-Björnsson syndrome reveals sex-dependent effects*2026 Genetics in Medicine Open conference-abstract Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Eirny Tholl Thorolfsdottir, Kimberley Jade Anderson, Malak Ali Alghamdi, Naif A. M. Almontashiri, Brenda Barry, Matthias Begemann, +59 more
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies2025 RWTH Publications (RWTH Aachen) article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elsa Leitão, Amandine Santini, Benjamin Cogne, Miriam Essid, Maria Athanasiadou, Christy W. LaFlamme, +93 more
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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 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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Delineating the molecular and phenotypic spectrum of the SETD1B -related syndrome2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, +91 more
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Elucidating the clinical and molecular spectrum of SMARCC2 -associated NDD in a cohort of 65 affected individuals2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy D. Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, +64 more
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Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study2024 European Journal of Human Genetics erratum Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David R. Goudie, Rosalyn Jewell, +42 more
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Hao-Fountain syndrome protein USP7 controls neuronal differentiation via BCOR-ncPRC1.12024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders
Joyce Wolf van der Meer, Axelle Larue, Jan A. VAN DER KNAAP, Gillian E. Chalkley, Ayestha Sijm, Leila Beikmohammadi, +14 more
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Improving prognostication for individuals with FOXP1 syndrome: Parent-reported practical and social skills in 52 individuals2025 Research in Developmental Disabilities article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Saskia Koene, Marieke Rothuizen-Lindenschot, Fabienne G. Ropers, Gijs W.E. Santen, Ruth O. Braden, Angela Tamsin Morgan, +2 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
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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
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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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ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes2026 iScience article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Venkateshwarlu Bandi, Myrrhe Venema, I. R. Wallace, Merel O. Mol, Anita Nikoncuk, Rachel Schot, +10 more
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Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization2026 European Journal of Human Genetics erratum Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Camille Engel, Michaela Rendek, Jessica Assoumani, Emanuela Argilli, Francesca Ariani, Anne-Laude Avice-Denizet, +70 more
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RBMX functional retrocopy safeguards brain development in a species-dependent context2026 Brain article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders
Pierre Tilliole, Carolin Mattausch, Peggy Tilly, Elsa Leitão, Lucile Boutaud, Daphné Lehalle, +45 more
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Additional file 2 of Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Figshare dataset Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Beatrice Valtorta, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha Saad Zaki, Denisa Bronišová, +26 more
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Additional file 2 of Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Figshare dataset Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Beatrice Valtorta, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha Saad Zaki, Denisa Bronišová, +26 more
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Additional file 1 of Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series2026 Figshare dataset Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Salvatore Savasta, Francesco Fabrizio Comisi, Giovanni Battista Dell’Isola, Gabriele Di Pasquale, Ivy Johnson, Isabella Herman, +8 more
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Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series2026 Figshare other Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Salvatore Savasta, Francesco Fabrizio Comisi, Giovanni Battista Dell’Isola, Gabriele Di Pasquale, Ivy Johnson, Isabella Herman, +8 more
0citations
Most active Aachen authors
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Arie van Haeringen 9,038 citations overall20 papers
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Gijs W.E. Santen 7,222 citations overall20 papers
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Claudia A. L. Ruivenkamp 10,749 citations overall19 papers
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Emilia K. Bijlsma 5,852 citations overall15 papers
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Daniela Q.C.M. Barge‐Schaapveld 2,176 citations overall9 papers
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Mariëtte J.V. Hoffer 3,199 citations overall8 papers
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Matthias Begemann 4,069 citations overall7 papers
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Miriam Elbracht 3,584 citations overall7 papers
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Saskia Koene 2,018 citations overall7 papers
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Esther A. R. Nibbeling 945 citations overall6 papers
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Pleuntje J. van der Sluijs 694 citations overall6 papers
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Hanna Swaab 8,705 citations overall5 papers
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Cacha M. P. C. D. Peeters‐Scholte 2,239 citations overall5 papers
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Fabienne G. Ropers 257 citations overall5 papers
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Myrthe R. M. Kamphof 0 citations overall5 papers