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Genetics and Neurodevelopmental Disorders Sign in to save
Papers per year
Papers 104
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Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes2023 Brain article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maria O. Levitin, Lettie E. Rawlins, Gabriela Sánchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, +35 more
12citations -
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome2022 Neurology article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maike Franziska Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Śmigiel, Alka Malhotra, +8 more
11citations -
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals2023 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Saskia Koene, Fabienne G. Ropers, Jannelien Wieland, T Rybak, Floor Wildschut, Dagmar Berghuis, +7 more
11citations -
A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disability2020 Gene article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Shimriet Zeidler, Lies Anne Severijnen, Helen de Boer, Esmay C. van der Toorn, Claudia A. L. Ruivenkamp, Emilia K. Bijlsma, +1 more
11citations -
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Jihoon G. Yoon, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho, Soo Yeon Kim, +9 more
10citations -
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elsa Leitão, Benjamin Cogné, Miriam Essid, Maria Athanasiadou, Christy W. LaFlamme, Pierre Marijon, +90 more
9citations -
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elisa Calì, Mohnish Suri, Marcello Scala, Matteo Paolo Ferla, Shahryar Alavi, Eissa Faqeih, +60 more
9citations -
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020 Nature Communications erratum Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, +85 more
9citations -
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Clara Houdayer, Kathleen Rooney, Liselot van der Laan, Céline Bris, Marielle M. Alders, Angela Bahr, +60 more
8citations -
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals2024 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Emily L. Durham, Elizabeth M. Gonzalez, Sarina M. Smith, +80 more
8citations -
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Francesca Furia, Amanda M. Levy, Miel Theunis, Michael J. Bamshad, Meghan N. Bartos, Emilia K. Bijlsma, +30 more
8citations -
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies2026 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elsa Leitão, Amandine Santini, Benjamin Cogné, Miriam Essid, Maria Athanasiadou, Christy W. LaFlamme, +94 more
7citations -
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Nour M. Elkhateeb, Renarta Crookes, Michael Spiller, Lisa Pavinato, Flavia Palermo, Alfredo Brusco, +61 more
7citations -
AUTS2-related syndrome: Insights from a large European cohort2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Lorenzo Loberti, Loredaria Adamo, Giulia Casamassima, Anne Destrèe, Nicola Brunetti‐Pierri, David Geneviève, +66 more
6citations -
ARID1B-related disorder in 87 adults: Natural history and self-sustainability2024 Genetics in Medicine Open article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Pleuntje J. van der Sluijs, M. Gösgens, Alexander J.M. Dingemans, Pasquale Striano, Cyril Mignot, Anne Faudet, +71 more
6citations -
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J.M. Dingemans, Dmitrijs Rots, +44 more
5citations -
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study2024 European Journal of Human Genetics article 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
5citations -
Molecular basis of the CYFIP2 and NCKAP1 autism‐linked variants in the WAVE regulatory complex2024 Protein Science article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Song Xie, Ke Zuo, Silvia De Rubeis, Paolo Ruggerone, Paolo Carloni
4citations -
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization2025 European Journal of Human Genetics article 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, +69 more
4citations -
Alternating Hemiplegia of Childhood and ATP1A3 -Related Diseases2025 Neurology Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Ailsa E. McLellan, Katherine Elizabeth Behl, Jo Brown, Steven J. Clapcote, Judith Helen Cross, Arn M. J. M. van den Maagdenberg, +3 more
4citations
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