Searching journal content for articles similar to Papale et al. 32 (2): 266.

Displaying results 1-10 of 73

For checked items

view abstracts
download to citation manager

Select this article
Research: Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
- Susan M. Hiatt,
- James M.J. Lawlor,
- Lori H. Handley,
- Donald R. Latner,
- Zachary T. Bonnstetter,
- Candice R. Finnila,
- Michelle L. Thompson,
- Lori Beth Boston,
- Melissa Williams,
- Ivan Rodriguez Nunez,
- Jerry Jenkins,
- Whitley V. Kelley,
- E. Martina Bebin,
- Michael A. Lopez,
- Anna C.E. Hurst,
- Bruce R. Korf,
- Jeremy Schmutz,
- Jane Grimwood,
- and Gregory M. Cooper
Genome Res. November 2024 34: 1747-1762; Published in Advance September 19, 2024, doi:10.1101/gr.279227.124
...Exchange and GeneMatcher (Philippakis et al. 2015; Sobreira et al. 2017).Here, we discuss findings from lrGS on a cohort of 96 short-read-negative cases, drawn from several studies focused on rare, suspected genetic diseases, especially early onset neurodevelopmental disorders (NDDs). We describe 19...
Select this article
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
...of Chromosome 8 and restore euploidy in cells derived from an individual with a complex rearrangement of Chromosome 8p. Transcriptomic analysis revealed 361 differentially expressed genes between the proband and the euploid revertant, highlighting genes both within and outside the 8p region that may contribute...
Select this article
Research: Oxygen-induced stress reveals context-specific gene regulatory effects in human brain organoids
- Benjamin D. Umans and
- Yoav Gilad
Genome Res. August 2025 35: 1689-1700; Published in Advance June 2, 2025, doi:10.1101/gr.280219.124
...topic modeling, which reveals context-specific gene regulation linked to dynamic cellular processes and environmental responses, offering a deeper understanding of how gene regulation is modulated in the brain. These findings underscore the importance of genotype-environment interactions in genetic...
OPEN ACCESS ARTICLE
Select this article
Research: Meta-analysis of activated neurons reveals dynamic regulation of diverse classes of alternative splicing
- Keegan S. Krick,
- Marissa Maroni,
- Erica Korb,
- Kristen W. Lynch,
- and Elizabeth A. Heller
Genome Res. June 2025 35: 1301-1312; Published in Advance April 24, 2025, doi:10.1101/gr.280082.124
...of Medicine, Philadelphia, Pennsylvania 19104, USA; 5Neuroscience Graduate Group, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA Corresponding authors: klync@pennmedicine.upenn.edu, eheller@pennmedicine.upenn.eduAbstractActivity-dependent gene expression...
Select this article
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...
Select this article
Resource: Genes essential for embryonic stem cells are associated with neurodevelopmental disorders
- Shahar Shohat and
- Sagiv Shifman
Genome Res. November 2019 29: 1910-1918; Published in Advance October 24, 2019, doi:10.1101/gr.250019.119
..., and that the human phenotypes most significantly associated with genes essential for ESCs are neurodevelopmental. Our results provide insights into essential genes in the mouse, the pathways which govern pluripotency, and suggest that many genes associated with neurodevelopmental disorders are essential at very...
Select this article
Research: An iPSC-based model of 47,XYY Jacobs syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with male X aneuploid cells
- Veronica Astro,
- Kelly Yojanna Cardona-Londoño,
- Lorena Viridiana Cortés-Medina,
- Rawan Alghamdi,
- Gustavo Ramírez-Calderón,
- Fotios Kefalas,
- Jair Dilmé-Capó,
- Santiago Radío,
- and Antonio Adamo
Genome Res. July 2025 35: 1503-1517; Published in Advance June 10, 2025, doi:10.1101/gr.279716.124
...a comparative analysis of 47,XYY and 47,XXY fibroblasts and iPSC transcriptomes. We reveal a transcriptional feedback mechanism tuning non-PAR X Chromosome gene (NPX) homologs in Y supernumerary cells, a phenomenon not detected in X aneuploid male iPSCs. By ectopically modulating the expression of selected NPY...
OPEN ACCESS ARTICLE
Select this article
Method: High-throughput single-cell functional elucidation of neurodevelopmental disease–associated genes reveals convergent mechanisms altering neuronal differentiation
- Matthew A. Lalli,
- Denis Avey,
- Joseph D. Dougherty,
- Jeffrey Milbrandt,
- and Robi D. Mitra
Genome Res. September 2020 30: 1317-1331; Published in Advance September 4, 2020, doi:10.1101/gr.262295.120
...have been causally linked to neurodevelopmental disorders (Wright et al. 2015). In autism spectrum disorder (ASD) alone, recent exome sequencing studies have identified over 100 genes that cause ASD when a single copy is mutated to a loss-of-function allele (O'Roak et al. 2012; De Rubeis et al. 2014...
Select this article
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
..., Philadelphia, Pennsylvania 19104, USA Corresponding author: ekorb@pennmedicine.upenn.eduAbstractEpigenetic regulation plays a critical role in many neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD). In particular, many such disorders are the result of mutations in genes that encode...
Select this article
Method: A general framework for identifying oligogenic combinations of rare variants in complex disorders
- Vijay Kumar Pounraja and
- Santhosh Girirajan
Genome Res. May 2022 32: 904-915; Published in Advance March 17, 2022, doi:10.1101/gr.276348.121
...2015; Taliun et al. 2021; Backman et al. 2021). In fact, recent studies have directly implicated rare damaging mutations that are very recent or de novo in >100 genes toward neurodevelopmental disorders (Sebat et al. 2007; Iossifov et al. 2014; Wilfert et al. 2021). The ability to establish robust...

For checked items

view abstracts
download to citation manager

Searching journal content for articles similar to Papale et al. 32 (2): 266.

Search Results

Modify Results

This search

Preprint Server

Current Issue

In This Issue

Citation format:
Results / page:
Results order: