Publications by authors named "Devon Bonner"

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"Nobody listened to us for years": Parents' experiences of provider communication in the diagnostic odyssey.
Michelle M Nguyen, Sevil Mahfoozi, Devon Bonner, Daphne O Martschenko, Alisha Giri

Mol Genet Metab· December 2025

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Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Taylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, Devon E Bonner, Dena R Matalon

Am J Hum Genet· October 2025

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Biallelic variants in cause the most prevalent known recessive neurodevelopmental disorder.
Daniel Greene, Rodrigo Mendez, Jon Lees, Mafalda Barbosa, Alessandro Bruselles, Devon E Bonner

medRxiv· August 2025

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Domain specific phenotypic expansion associated with variants in .
Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, Paulina Bahena-Carbajal, Jonathan A Bernstein, Devon Bonner

medRxiv· June 2025

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Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Queenie K-G Tan, Allyn McConkie-Rosell, Rachel M Brown, Rebecca C Spillmann, Kelly Schoch, Devon Bonner

Am J Med Genet A· April 2025

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Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Tanner D Jensen, Bohan Ni, Chloe M Reuter, John E Gorzynski, Sarah Fazal, Devon Bonner

Genome Res· April 2025

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De novo variants in cause a syndromic neurodevelopmental disorder.
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, Anuradha V Chimata, Deepa S Rajan, Devon E Bonner

medRxiv· April 2025

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Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, Devon E Bonner, Dena R Matalon

medRxiv· January 2025

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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Jennefer N Kohler, Nicole R Legro, Dustin Baldridge, Jimann Shin, Angela Bowman, Devon Bonner

Genet Med· September 2024

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Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Victoria E Rael, Julian A Yano, John P Huizar, Leianna C Slayden, Madeleine A Weiss, Devon E Bonner

J Exp Med· August 2024

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Impact of genome build on RNA-seq interpretation and diagnostics.
Rachel A Ungar, Pagé C Goddard, Tanner D Jensen, Fabien Degalez, Kevin S Smith, Devon E Bonner

Am J Hum Genet· July 2024

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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley

Ann Clin Transl Neurol· March 2024

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Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Tanner D Jensen, Bohan Ni, Chloe M Reuter, John E Gorzynski, Sarah Fazal, Devon Bonner

medRxiv· March 2024

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Impact of genome build on RNA-seq interpretation and diagnostics.
Rachel A Ungar, Pagé C Goddard, Tanner D Jensen, Fabien Degalez, Kevin S Smith, Devon E Bonner

medRxiv· January 2024

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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Rebecca C Spillmann, Queenie K-G Tan, Chloe Reuter, Kelly Schoch, , Devon Bonner

Genet Med· April 2023

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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Hadia Hijazi, Linda M Reis, Davut Pehlivan, Jonathan A Bernstein, Michael Muriello, Devon Bonner

Am J Hum Genet· December 2022

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DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.
Cassandra R Harapas, Kim S Robinson, Kenneth Lay, Jasmine Wong, Ricardo Moreno Traspas, Devon Bonner

Sci Immunol· September 2022

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Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
Danique Beijer, Hong Joo Kim, Lin Guo, Kevin O'Donovan, Inès Mademan, Devon Bonner

JCI Insight· July 2021

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Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Uirá Souto Melo, Devon Bonner, Kevin C Kent Lloyd, Ala Moshiri, Brandon Willis

Genet Med· April 2021

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Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.
Marc Jan Bonder, Craig Smail, Michael J Gloudemans, Laure Frésard, David Jakubosky, Devon E Bonner

Nat Genet· March 2021

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Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Kelly Schoch, Cecilia Esteves, Anna Bican, Rebecca Spillmann, Heidi Cope, Devon Bonner

Genet Med· February 2021

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Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
Chloe M Reuter, Jennefer N Kohler, Devon Bonner, Diane Zastrow, Liliana Fernandez

J Genet Couns· December 2019

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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Laure Frésard, Craig Smail, Nicole M Ferraro, Nicole A Teran, Xin Li, Devon Bonner

Nat Med· June 2019

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Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
Megan E Grove, Shana White, Dianna G Fisk, Shannon Rego, Orit Dagan-Rosenfeld, Devon Bonner

J Genet Couns· April 2019

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A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Diane B Zastrow, Jennefer N Kohler, Devon Bonner, Chloe M Reuter, Liliana Fernandez

J Genet Couns· April 2019

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