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Genetics and Neurodevelopmental Disorders Sign in to save
Papers per year
Papers 104
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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants2021 Neurogenetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Katja Kloth, Bernarda Lozić, Julia Tagoe, Mariëtte J.V. Hoffer, Amelie T. van der Ven, Hölger Thiele, +6 more
28citations -
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Xénia Latypova, Marie Vincent, Alice Mollé, Oluwadamilare A. Adebambo, Cynthia Fourgeux, Tahir Naeem Khan, +39 more
26citations -
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology2022 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie M. McGaughran, Isabelle Maystadt, Stéphanie Moortgat, +32 more
26citations -
Inherited cases of CNOT3 ‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Robert Meyer, Matthias Begemann, Stephanie Demuth, Florian Kraft, Daniela Dey, Herdit M. Schüler, +6 more
25citations -
De novo variants in ATP2B1 lead to neurodevelopmental delay2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Meer Jacob Rahimi, Nicole D. Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Bernt Popp, +30 more
25citations -
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Mio Aerden, Anne‐Sophie Denommé‐Pichon, Dominique Bonneau, Ange‐Line Bruel, Julian Delanne, Bénédicte Gérard, +51 more
23citations -
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael A. Levy, Alexander J.M. Dingemans, Bert B A De Vries, +84 more
23citations -
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Marco Angelozzi, Anirudha Karvande, Arnaud Molin, Alyssa L. Ritter, Juliann M. Savatt, Kristen Douglass, +40 more
18citations -
Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Sunwoo Liv Lee, Lara A. Menzies, Eleanor Hay, Eguzkine Ochoa, France Docquier, Fay Rodger, +16 more
18citations -
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice2023 Science Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Sarah E. Sheppard, Laura M. Bryant, Rochelle N. Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, +93 more
17citations -
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA32024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maimuna Sali Paul, Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill Anne Rosenfeld, +94 more
16citations -
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants2023 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Soha Sewani, Mahshid Sababi Azamian, Bryce A. Mendelsohn, Frédéric Tran Mau‐Them, Manon Réda, Sophie Nambot, +17 more
16citations -
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals2023 Genetics in Medicine article 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
15citations -
Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome2022 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Liselot van der Laan, Kathleen Rooney, Marielle M. Alders, Raissa Relator, Haley McConkey, Jennifer Kerkhof, +29 more
15citations -
Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene2020 BMJ Case Reports article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Willem M. A. Verhoeven, J.I.M. Egger, Paddy K.C. Janssen, Arie van Haeringen
15citations -
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Saif N. Haify, Ronald A.M. Buijsen, Lucas Verwegen, Lies‐Anne Severijnen, Helen de Boer, Valerie Boumeester, +6 more
14citations -
Finding Suitable Clinical Endpoints for a Potential Treatment of a Rare Genetic Disease: the Case of ARID1B2020 Neurotherapeutics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Matthijs D. Kruizinga, Rob G. J. A. Zuiker, Elif Sali, Marieke L. de Kam, Robert Jan Doll, Geert Jan Groeneveld, +2 more
13citations -
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1 -associated neurodevelopmental disorders2022 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Stacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A. Wilson, Brian J. Shayota, +18 more
13citations -
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome2023 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Agnies M. van Eeghen, D. Stemkens, José Ramón Fernández‐Fructuoso, A. Maruani, Kinga Hadzsiev, Charlotte M. W. Gaasterland, +50 more
13citations
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