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Genetics and Neurodevelopmental Disorders Sign in to save
Papers per year
Papers 104
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, +86 more
223citations -
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alfredo M. Valencia, Akshay Sankar, Pleuntje J. van der Sluijs, F. Kyle Satterstrom, Jack M. Fu, Michael E. Talkowski, +3 more
76citations -
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl S. Cytrynbaum, +81 more
73citations -
DLG4-related synaptopathy: a new rare brain disorder2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés, Kimberly A. Aldinger, Íñigo Marcos‐Alcalde, Bernt Popp, +80 more
62citations -
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay2020 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld M. Oud, Inge van Outersterp, +62 more
59citations -
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Jacob R. Stolz, Kendall M. Foote, Hermine E. Veenstra‐Knol, Rolph Pfundt, Sanne W. ten Broeke, Nicole de Leeuw, +32 more
53citations -
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons2021 Molecular Psychiatry article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Karen Runge, Rémi Mathieu, Stéphane Bugeon, Sahra Lafi, Corinne Beurrier, Surajit Sahu, +32 more
50citations -
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Antonio Vitobello, Benoît Mazel, Vera G. Lelianova, Alice Zangrandi, Evelina Petitto, Jason Suckling, +34 more
49citations -
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, +75 more
41citations -
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Meena Balasubramanian, Alexander J.M. Dingemans, Shadi Albaba, Ruth Richardson, T. Michael Yates, Sofia Douzgou, +32 more
39citations -
Heterozygous variants in SPTBN1 cause intellectual disability and autism2021 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Jill Anne Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael James Parker, Mary Kay Koenig, +14 more
38citations -
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas2020 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dara Tolchin, J. Paige Yeager, Naghmeh Dorrani, Alvaro Serrano Russi, Julián A. Martínez-Agosto, Abdul Haseeb, +84 more
37citations -
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, +6 more
37citations -
Role of CAMK2D in neurodevelopment and associated conditions2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Pomme M.F. Rigter, Charlotte de Konink, Martina Proietti Onori, Jennifer B. Humberson, Matthew Thomas, Caitlin Barnes, +33 more
36citations -
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder2023 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, +92 more
36citations -
Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes2020 Journal of Intellectual Disability Research article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Paul A. Mulder, Ingrid D. C. van Balkom, Annemiek M. Landlust, Manuela Priolo, Leonie A. Menke, I. Hernando Acero, +51 more
36citations -
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Federico Tessadori, Karen J. Duran, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, +57 more
36citations -
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, Karla A. Peña‐Guerra, +90 more
35citations -
Phenotypic expansion of the BPTF ‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies2021 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Kevin E. Glinton, Anna Hurst, Kevin M. Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, +41 more
31citations -
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
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