Publications by authors named "Jennifer L Howe"

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Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum, Marla Mendes, Miriam S Reuter, Evdokia Anagnostou, Jeffrey R MacDonald

Am J Hum Genet· January 2025

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UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.
Miriam S Reuter, Nelson Bautista Salazar, Jennifer L Howe, Ny Hoang, Ege Sarikaya

NPJ Genom Med· November 2025

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Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.
Harsha Murthy, Ny Hoang, Jamie C Stark, Sunny Cui, Emanuela Pannia, Jennifer L Howe

Brain· July 2025

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Chromosome X-wide common variant association study in autism spectrum disorder.
Marla Mendes, Desmond Zeya Chen, Worrawat Engchuan, Thiago Peixoto Leal, Bhooma Thiruvahindrapuram, Jennifer L Howe

Am J Hum Genet· January 2025

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Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder.
Marla Mendes, Desmond Zeya Chen, Worrawat Engchuan, Thiago Peixoto Leal, Bhooma Thiruvahindrapuram, Jennifer L Howe

medRxiv· July 2024

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Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Jennifer L Howe

Nat Genet· April 2024

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Genetic variants in contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar

medRxiv· December 2023

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ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, Jennifer L Howe

Hum Mol Genet· July 2023

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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer L Howe

Brain· February 2023

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Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons.
Muhammad Faheem, Eric Deneault, Roumiana Alexandrova, Deivid C Rodrigues, Giovanna Pellecchia, Jennifer L Howe

BMC Med Genomics· January 2023

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Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Brett Trost, Bhooma Thiruvahindrapuram, Ada J S Chan, Worrawat Engchuan, Edward J Higginbotham, Jennifer L Howe

Cell· November 2022

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Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Ada J S Chan, Worrawat Engchuan, Miriam S Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Jennifer L Howe

Nat Commun· October 2022

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Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila.
Angelina Palacios-Muñoz, Danielle de Paula Moreira, Valeria Silva, Isaac E García, Francisco Aboitiz, Jennifer L Howe

Mol Psychiatry· August 2022

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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Yoel Gofin, Tianyun Wang, Madelyn A Gillentine, Tiana M Scott, Aliska M Berry, Jennifer L Howe

Hum Mutat· April 2022

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Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
Islam Oguz Tuncay, Nancy L Parmalee, Raida Khalil, Kiran Kaur, Ashwani Kumar, Jennifer L Howe

NPJ Genom Med· February 2022

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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Livia O Loureiro, Jennifer L Howe, Miriam S Reuter, Alana Iaboni, Kristina Calli

NPJ Genom Med· November 2021

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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nasna Nassir, Asma Bankapur, Bisan Samara, Abdulrahman Ali, Awab Ahmed, Jennifer L Howe

Hum Genomics· November 2021

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Genome-wide detection of tandem DNA repeats that are expanded in autism.
Brett Trost, Worrawat Engchuan, Charlotte M Nguyen, Bhooma Thiruvahindrapuram, Egor Dolzhenko, Jennifer L Howe

Nature· October 2020

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Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Marc Woodbury-Smith, Mehdi Zarrei, John Wei, Bhooma Thiruvahindrapuram, Irene O'Connor, Jennifer L Howe

Am J Med Genet B Neuropsychiatr Genet· July 2020

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A large data resource of genomic copy number variation across neurodevelopmental disorders.
Mehdi Zarrei, Christie L Burton, Worrawat Engchuan, Edwin J Young, Edward J Higginbotham, Jennifer L Howe

NPJ Genom Med· October 2019

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or human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.
Eric Deneault, Muhammad Faheem, Sean H White, Deivid C Rodrigues, Song Sun, Jennifer L Howe

Elife· February 2019

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Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.
Eric Deneault, Sean H White, Deivid C Rodrigues, P Joel Ross, Muhammad Faheem, Jennifer L Howe

Stem Cell Reports· February 2019

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Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.
Eric Deneault, Sean H White, Deivid C Rodrigues, P Joel Ross, Muhammad Faheem, Jennifer L Howe

Stem Cell Reports· November 2018

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A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.
Marc Woodbury-Smith, Andrew D Paterson, Irene O'Connor, Mehdi Zarrei, Ryan K C Yuen, Jennifer L Howe

J Neurodev Disord· June 2018

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Mutations in in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Marc Woodbury-Smith, Eric Deneault, Ryan K C Yuen, Susan Walker, Mehdi Zarrei, Jennifer L Howe

Mol Autism· February 2018

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