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Genetics and Neurodevelopmental Disorders Sign in to save
Papers per year
Papers 104
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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants2024 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva, Sadegheh Haghshenas, Raissa Relator, +26 more
4citations -
Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Valentina Galassi Deforie, Reza Maroofian, Irem Karagoz, Annie Godwin, Ebtehal Al Sheikh, Gaia Gestri, +60 more
3citations -
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments2024 Human Mutation article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Bianca Zardetto, Willeke van Roon‐Mom, Annemieke M Aartsma-Rus, Marlen C. Lauffer
3citations -
Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development2024 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Pleuntje J. van der Sluijs, Koshar Safai Pour, Cécile L. Berends, Matthijs D. Kruizinga, Annelieke R. Müller, Agnies M. van Eeghen, +6 more
3citations -
Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype2025 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Esin Nur Erdogan, Chi Vicky Cheng, Stefano Giuseppe Caraffi, Ivan P. Ivanovski, Gianluca Piatelli, Edoardo Errichiello, +26 more
3citations -
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maria Asif, Arwa Ishaq A. Khayyat, Salem Alawbathani, Uzma Abdullah, Anne Sanner, Theodoros Georgomanolis, +17 more
2citations -
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome2026 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benónísdóttir, Malak Ali Alghamdi, +59 more
2citations -
Editorial: Treatment of psychopathological and neurocognitive disorders in genetic syndromes: In need of multidisciplinary phenotyping and treatment design2022 Frontiers in Psychiatry editorial Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
J.I.M. Egger, Kate Anne Woodcock, Lot D. de Witte, Marianne B. M. van den Bree, Linde C. M. van Dongen, Ellen Wingbermühle, +1 more
2citations -
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals2024 European Journal of Human Genetics erratum 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
2citations -
Common characteristics of variants linked to autism spectrum disorder in the WAVE regulatory complex2025 Frontiers in Computational Neuroscience article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Song Xie, Ke Zuo, Silvia De Rubeis, Giorgio Bonollo, Giorgio Colombo, Paolo Ruggerone, +1 more
1citations -
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Ariane Kröll‐Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Élise Schaefer, Sophie Scheidecker, +81 more
1citations -
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Sally Nijim, Mimi Kim, Melissa Denish, Michael V. Gonzalez, Joseph Zinski, Claudine Rieubland, +90 more
1citations -
Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series2026 Journal of Neurodevelopmental Disorders article 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
1citations -
863 different causes of Rett syndrome and lessons learned from data integration.2020 preprint 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
1citations -
Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons2021 Molecular Psychiatry erratum 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
1citations -
Mouse and cellular models of KPTN -related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes2022 bioRxiv (Cold Spring Harbor Laboratory) preprint 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
1citations -
Bioassay-confirmed Pathogenic De Novo ATP1A1 Variants Cause a Complex Neurodevelopmental Syndrome (S29.009)2022 Neurology article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders
Maike Franziska Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Śmigiel, Alka Malhotra, +5 more
0citations -
In Vitro Generation and Characterization of The Wu Syndrome Model That Causes Mental Retardation in Neural Cell Lines2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Sumeyye Seher Karaman, Tuba Sevik, Selin Akdemir, Esra Karadeli, Dilay Yalcin, Buse Baran, +5 more
0citations -
Evaluation of the X-chromosome inactivation patterns in females with Gabriele-de Vries syndrome and expansion of clinical spectrum2026 Research Square preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Bianca Mie Sato Kurashima, Laura Machado Lara Carvalho, Rafael Mina Piergiorge, S. Silveira da Costa, Suely Rodrigues dos Santos, Andressa Pereira Gonçalves, +13 more
0citations
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