Searching journal content for articles similar to Shohat and Shifman 29 (11): 1910.

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Research: Gene by environment interaction mouse model reveals a functional role for 5-hydroxymethylcytosine in neurodevelopmental disorders
- Ligia A. Papale,
- Andy Madrid,
- Qi Zhang,
- Kailei Chen,
- Lara Sak,
- Sündüz Keleş,
- and Reid S. Alisch
Genome Res. February 2022 32: 266-279; Published in Advance December 23, 2021, doi:10.1101/gr.276137.121
...neurodevelopmental disorders. We tested adult Cntnap2 heterozygous mice (Cntnap2+/−; lacking behavioral or neuropathological abnormalities) subjected to a prenatal stress and found that prenatally stressed Cntnap2+/− female mice show repetitive behaviors and altered sociability, similar to the homozygote phenotype...
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Research: Coexpression enrichment analysis at the single-cell level reveals convergent defects in neural progenitor cells and their cell-type transitions in neurodevelopmental disorders
- Kaifang Pang,
- Li Wang,
- Wei Wang,
- Jian Zhou,
- Chao Cheng,
- Kihoon Han,
- Huda Y. Zoghbi,
- and Zhandong Liu
Genome Res. June 2020 30: 835-848; Published in Advance June 18, 2020, doi:10.1101/gr.254987.119
...contributed equally to this work. Corresponding authors: kpang@bcm.edu, zhandong.liu@bcm.eduAbstractA large number of genes have been implicated in neurodevelopmental disorders (NDDs), but their contributions to NDD pathology are difficult to decipher without understanding their diverse roles in different...
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Research: Identification of a transcriptional signature found in multiple models of ASD and related disorders
- Samuel Thudium,
- Katherine Palozola,
- Éloïse L'Her,
- and Erica Korb
Genome Res. September 2022 32: 1642-1654; Published in Advance September 14, 2022, doi:10.1101/gr.276591.122
...and the underlying cellular mechanisms that result in ASD.Neurodevelopmental disorders (NDDs) that result in autism spectrum disorder (ASD) are caused by both environmental and genetic factors. Even within the subset of disorders that have a clear genetic cause, each individual syndrome stems from a unique mutation...
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Research: Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
- Konstantin Popadin,
- Stephan Peischl,
- Marco Garieri,
- M. Reza Sailani,
- Audrey Letourneau,
- Federico Santoni,
- Samuel W. Lukowski,
- Georgii A. Bazykin,
- Sergey Nikolaev,
- Diogo Meyer,
- Laurent Excoffier,
- Alexandre Reymond,
- and Stylianos E. Antonarakis
Genome Res. January 2018 28: 1-10; Published in Advance December 13, 2017, doi:10.1101/gr.228411.117
...samples and 16 fibroblast transcriptomes) and observed a deficit of slightly deleterious variants on Chromosome 21 and decreased transcriptome-wide variation in the expression level of highly constrained genes. We interpret these results as signatures of embryonic selection, and propose a genetic handicap...
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Method: Chromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation
- Sophia N. Lee,
- Erin C. Banda,
- Lu Qiao,
- Sarah L. Thompson,
- Karan Singh,
- Ryan A. Hagenson,
- Teresa Davoli,
- Stefan F. Pinter,
- and Jason M. Sheltzer
Genome Res. March 2026 36: 547-560; Published in Advance January 12, 2026, doi:10.1101/gr.280425.125
...equally to this work. Corresponding authors: spinter@uchc.edu, jason.sheltzer@yale.eduAbstractChromosomal rearrangements on the short arm of Chromosome 8 cause 8p syndrome, a rare developmental disorder characterized by neurodevelopmental delays, epilepsy, and cardiac abnormalities. Although significant...
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Method: The discovery of integrated gene networks for autism and related disorders
- Fereydoun Hormozdiari,
- Osnat Penn,
- Elhanan Borenstein,
- and Evan E. Eichler
Genome Res. January 2015 25: 142-154; Published in Advance November 5, 2014, doi:10.1101/gr.178855.114
.... [Supplemental material is available for this article.] There has been considerable progress in the discovery of de novo mutations and candidate genes in patients with neurodevelopmental and neuropsychiatric diseases, such as autism spectrum disorders (ASD) (Iossifov et al. 2012; Neale et al. 2012; O’Roak et al...
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Mini-Review: The chromatin tapestry as a framework for neurodevelopment
- Ben Nolan,
- Timothy E. Reznicek,
- Christopher T. Cummings,
- and M. Jordan Rowley
Genome Res. October 2024 34: 1477-1486; doi:10.1101/gr.278408.123
...these epigenetic features change throughout normal neurodevelopment. Finally, we highlight single-gene neurodevelopmental disorders that illustrate the interdependence of epigenetic features, showing how disruptions in DNA methylation or architecture can ripple across the entire epi. As such, we emphasize...
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Review: The superpowers of imprinting control regions
- Bertille Montibus,
- Franck Court,
- and Philippe Arnaud
Genome Res. January 2026 36: 1-19; Published in Advance December 10, 2025, doi:10.1101/gr.281215.125
....ICR: a multifaceted cis-regulatory regionAllelic DNA methylation at ICRs, although constitutive, orchestrates the complex spatiotemporal expression patterns of imprinted genes by modulating a combination of regulatory mechanisms. In embryonic stem (ES) cells, allelic expression is initially confined to genes in close...
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Perspective: Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases
- Jung-Wan Mok,
- Shelley B. Gibson,
- Haley A. Dostalik,
- and Shinya Yamamoto
Genome Res. July 2025 35: 1473-1484; Published in Advance June 4, 2025, doi:10.1101/gr.278291.123
...be useful functional data that can be retrieved when comparing the phenotypes caused by introducing the reference or variant human transgenes into a fly mutant background. For example, two missense variants in MRTFB (p.R104G and p.A91P) that were found in patients with a novel neurodevelopmental disorder...
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Research: Optical genome mapping identifies rare structural variants in neural tube defects
- Nikhil S. Sahajpal,
- Jane Dean,
- Benjamin Hilton,
- Timothy Fee,
- Cindy Skinner,
- Alex Hastie,
- Barbara R. DuPont,
- Alka Chaubey,
- Michael J. Friez,
- and Roger E. Stevenson
Genome Res. April 2025 35: 798-809; Published in Advance March 19, 2025, doi:10.1101/gr.279318.124
..., and FOXH1). FOXD4 (case 9, Fig. 2B; Table 1), is a forkhead transcription factor, that regulates the transition from pluripotent embryonic stem cells (ESCs) to neuroectodermal stem cell, and is necessary for neuronal differentiation (Neilson et al. 2012). McMohan et al. (2022) observed craniofacial...
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