Publications by authors named "Jennifer Howe"

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Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes.
Maria Sundberg, Carole Shum, Erika M Norabuena, Nina R Makhortova, Cidi Chen, Jennifer Howe

Neurobiol Dis· November 2025

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Jennifer Howe

Am J Hum Genet· November 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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Recombinant ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) decreases vascular calcification and prevents osteomalacia in a rat model of chronic kidney disease.
Kevin O'Brien, Lisa Laurion, Caitlin Sullivan, Jennifer Howe, Angela Malin Lynch

JBMR Plus· June 2025

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Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.
Thanuja Selvanayagam, Ny Hoang, Ege Sarikaya, Jennifer Howe, Carolyn Russell

J Med Genet· May 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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Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs.
Carole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, Zhuozhi Wang, Jill de Rijke, Jennifer Howe

Comput Struct Biotechnol J· December 2024

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Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing.
Jesper Eisfeldt, Edward J Higginbotham, Felix Lenner, Jennifer Howe, Bridget A Fernandez

Genome Res· November 2024

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ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.
Ernst J Reichenberger, Kevin O'Brien, Ayano Hatori, Thomas O Carpenter, Koen van de Wetering, Jennifer Howe

JBMR Plus· September 2024

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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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Inhibition of Vascular Smooth Muscle Cell Proliferation by ENPP1: The Role of CD73 and the Adenosine Signaling Axis.
Boris Tchernychev, Yvonne Nitschke, Di Chu, Caitlin Sullivan, Lisa Flaman, Jennifer Howe

Cells· June 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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Allelic heterogeneity and abnormal vesicle recycling in -related neurodevelopmental disorders.
Michele Iacomino, Nadia Houerbi, Sara Fortuna, Jennifer Howe, Shan Li

Front Mol Neurosci· 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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The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.
Marc Woodbury-Smith, Lia D'Abate, Dimitri J Stavropoulos, Jennifer Howe, Irene Drmic

J Med Genet· November 2023

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Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Mona Abdi, Elbay Aliyev, Brett Trost, Muhammad Kohailan, Waleed Aamer, Jennifer Howe

Genome Med· October 2023

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Linkage of whole genome sequencing and administrative health data in autism: A proof of concept study.
Danielle A Baribeau, Jasleen Arneja, Xuesong Wang, Jennifer Howe, John R McLaughlin

Autism Res· August 2023

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Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Mehdi Zarrei, Christie L Burton, Worrawat Engchuan, Edward J Higginbotham, John Wei, Jennifer Howe

Hum Mol Genet· July 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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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Jennifer Howe

Am J Hum Genet· June 2023

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Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome.
Brianna K Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Jennifer Howe

Mol Psychiatry· April 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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