Papers matching “neurodevelopmental disorders” in Genetics and Neurodevelopmental Disorders 104
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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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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
0citations -
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
0citations -
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
0citations -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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
0citations -
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
0citations