Search Results - "Bonner, Devon"

Genetic Diagnosis and Discovery Enabled by Large Language Models.

Authors: Tu, Tao Saab, Khaled Liu, Weida et al.

Source: Advanced Science; 4/17/2026, Vol. 13 Issue 22, p1-14, 14p

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Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.

Authors: Tan, Queenie K.‐G. McConkie‐Rosell, Allyn Mahoney, Rachel et al.

Source: American Journal of Medical Genetics. Part A; Apr2025, Vol. 197 Issue 4, p1-13, 13p

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Recruitment of a Population-Based Sample of Young Black Women with Breast Cancer through a State Cancer Registry.

Authors: Bonner, Devon Cragun, Deborah Reynolds, Monique et al.

Source: Breast Journal. Mar/Apr2016, Vol. 22 Issue 2, p166-172. 7p.

Early Onset Breast Cancer in a Registry-based Sample of African-American Women: BRCA Mutation Prevalence, and Other Personal and System-level Clinical Characteristics.

Authors: Pal, Tuya Bonner, Devon Kim, Jongphil et al.

Source: Breast Journal. Mar/Apr2013, Vol. 19 Issue 2, p189-192. 4p.

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

Authors: Pal, Tuya Bonner, Devon Cragun, Deborah et al.

Source: Cancer (0008543X). Dec2015, Vol. 121 Issue 23, p4173-4180. 9p.

"Nobody listened to us for years": Parents' experiences of provider communication in the diagnostic odyssey.

Authors: Nguyen, Michelle M. Mahfoozi, Sevil Bonner, Devon et al.

Source: Molecular Genetics & Metabolism. Dec2025, Vol. 146 Issue 4, pN.PAG-N.PAG. 1p.

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Authors: Donkervoort, Sandra Mohassel, Payam O'Leary, Melanie et al.

Source: Annals of Clinical & Translational Neurology. Mar2024, Vol. 11 Issue 3, p629-640. 12p.

Racial disparities in BRCA testing and cancer risk management across a population-based sample of young breast cancer survivors.

Authors: Cragun, Deborah Weidner, Anne Lewis, Courtney et al.

Source: Cancer (0008543X). Jul2017, Vol. 123 Issue 13, p2497-2505. 9p.

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Authors: Matalon DR Duker AL Arriaga TM et al.

Corporate Authors: Matalon DR Duker AL Arriaga TM et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jun 19, pp. 102633. Date of Electronic Publication: 2026 Jun 19.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Population-scale detection of methylation outliers from long-read genome sequencing.

Authors: Jensen TD Kaur R Bonner DE et al.

Corporate Authors: Jensen TD Kaur R Bonner DE et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Jun 11. Date of Electronic Publication: 2026 Jun 11.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Authors: Greene D Mendez R Lees J et al.

Corporate Authors: Greene D Mendez R Lees J et al.

Source: Nature genetics [Nat Genet] 2026 May; Vol. 58 (5), pp. 1187.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; In Process

Not "just a VUS".

Authors: Tise CG Adelson SM Garrity EB et al.

Source: Genetics in medicine open [Genet Med Open] 2026 Apr 29; Vol. 4, pp. 104401. Date of Electronic Publication: 2026 Apr 29 (Print Publication: 2026).

Publication Type: Editorial

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

Authors: Niehaus AD Bonner DE Carter J et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr 19. Date of Electronic Publication: 2026 Apr 19.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

Authors: Mendez R Arriaga TM Ma J et al.

Corporate Authors: Mendez R Arriaga TM Ma J et al.

Source: HGG advances [HGG Adv] 2026 Apr 09; Vol. 7 (2), pp. 100588. Date of Electronic Publication: 2026 Mar 09.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Authors: Jost C Busa T Wegner D et al.

Corporate Authors: Jost C Busa T Wegner D et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Apr; Vol. 34 (4), pp. 554-564. Date of Electronic Publication: 2026 Jan 28.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Authors: Greene D Mendez R Lees J et al.

Corporate Authors: Greene D Mendez R Lees J et al.

Source: Nature genetics [Nat Genet] 2026 Apr; Vol. 58 (4), pp. 774-781. Date of Electronic Publication: 2026 Mar 30.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.

Authors: Keehan LA Ono-Minagi H Hadhud M et al.

Corporate Authors: Keehan LA Ono-Minagi H Hadhud M et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Apr; Vol. 28 (4), pp. 102531. Date of Electronic Publication: 2026 Feb 03.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE