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D. Bonner · SciRah

Researcher profile · Semantic Scholar

D. Bonner

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D. Bonner — researcher profile on SciRah

h-index: 7
Works: 28
Citations: 453

Most-cited papers

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
L. Frésard, Craig Smail, N. Ferraro, Nicole A. Teran +30 more
2019Nature Medicine298 citations Open access
Semantic Scholar
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Victoria E. Rael, Julian A. Yano, J. Huizar, Leianna C. Slayden +20 more
2024Journal of Experimental Medicine38 citations Open access
Semantic Scholar
Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science
K. Schoch, C. Esteves, A. Bican, R. Spillmann +27 more
2020Genetics in Medicine36 citations Open access
Semantic Scholar
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Taylor M. Arriaga, Rodrigo Mendez, Rachel A. Ungar, D. Bonner +20 more
2025American Journal of Human Genetics14 citations Open access
Semantic Scholar
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Maggie T. Arriaga, Rodrigo Mendez, Rachel A. Ungar, D. Bonner +20 more
2025medRxiv11 citations Open access
Semantic Scholar
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, Mafalda Barbosa +17 more
2025medRxiv10 citations Open access
Semantic Scholar
Impact of genome build on RNA-seq interpretation and diagnostics.
Rachel A. Ungar, Pagé C. Goddard, T. Jensen, Fabien Degalez +6 more
2024American Journal of Human Genetics7 citations Open access
Semantic Scholar
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
T. Jensen, Bohan Ni, C. Reuter, J. Gorzynski +13 more
2024medRxiv7 citations Open access
Semantic Scholar
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
T. Jensen, Bohan Ni, C. Reuter, J. Gorzynski +13 more
2025Genome Research6 citations Open access
Semantic Scholar
AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year
Johannes Birgmeier, E. Steinberg, Ethan E. Bodle, Cole A. Deisseroth +23 more
2021medRxiv6 citations Open access
Semantic Scholar
Impact of genome build on RNA-seq interpretation and diagnostics
Rachel A. Ungar, Pagé C. Goddard, T. Jensen, Fabien Degalez +6 more
2024medRxiv4 citations Open access
Semantic Scholar
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Eric N. Anderson, S. Drukewitz, Sukhleen Kour, A. V. Chimata +54 more
2025medRxiv3 citations Open access
Semantic Scholar
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
S. Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia +339 more
2025Nature Communications3 citations Open access
Semantic Scholar
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, Mafalda Barbosa +26 more
2026Nature Genetics2 citations Open access
Semantic Scholar
Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association
L. Keehan, Hitomi Ono-Minagi, M. Hadhud, J. Rips +20 more
2026Genetics in Medicine2 citations
Semantic Scholar
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Eric N. Anderson, S. Drukewitz, Sukhleen Kour, A. V. Chimata +54 more
2025American Journal of Human Genetics2 citations
Semantic Scholar
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
S. Donkervoort, P. Mohassel, M. O'Leary, D. Bonner +19 more
2024Annals of Clinical and Translational Neurology2 citations Open access
Semantic Scholar
Clinical application of Complete Long Read genome sequencing identifies a 16kb intragenic duplication in EHMT1 in a patient with suspected Kleefstra syndrome
J. Gorzynski, S. Marwaha, C. Reuter, T. Jensen +14 more
2024medRxiv2 citations Open access
Semantic Scholar
DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade
Annel Andrea Leon Tenorio, Takeshi Sugio, Jordan C. Cheng, D. Bonner +13 more
2026ACR Open Rheumatology1 citations Open access
Semantic Scholar
Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations
Rodrigo Mendez, Taylor M. Arriaga, Jia-Lan Ma, D. Bonner +22 more
2026HGG advances1 citations Open access
Semantic Scholar
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
Dena R Matalon, Angela L. Duker, Taylor M. Arriaga, Kathryn A. Russell +65 more
2026Genetics in Medicine1 citations Open access
Semantic Scholar
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
Lane Fitzsimmons, M. T. Acosta, David R. Adams, Ben Afzali +248 more
2025BioData Mining1 citations Open access
Semantic Scholar
Autism Research Review
Daniel Greene, Rodrigo Mendez, Jon Lees, Mafalda Barbosa +25 more
1 citations
Semantic Scholar
Population-scale detection of methylation outliers from long-read genome sequencing
T. Jensen, Rhina Kaur, D. Bonner, Jonathan V Nguyen +5 more
2026medRxiv0 citations Open access
Semantic Scholar
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling
Annie D. Niehaus, D. Bonner, Jennefer N. Carter, Kayleigh Avello +23 more
2026American Journal of Medical Genetics. Part A0 citations
Semantic Scholar
MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains
Laurens Wiel, F. Ferraro, Jay Yu, Jimmy Zhen +18 more
2026bioRxiv0 citations Open access
Semantic Scholar
RareCollab: an LLM-powered framework for multimodal reasoning in Mendelian disease diagnosis
Guan-Tong Qi, Jiasheng Wang, M. Chong, Zahid Shaik +14 more
20260 citations
Semantic Scholar
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, Mafalda Barbosa +26 more
2026Nature Genetics0 citations Open access
Semantic Scholar

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