Search Results - "Haley JS"

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MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.

Authors: Sharp LN Mirshahi UL Colclough K et al.

Source: Diabetes [Diabetes] 2026 Jan 20; Vol. 75 (2), pp. 361-368.

Publication Type: Journal Article

Journal Info: Publisher: American Diabetes Association Country of Publication: United States NLM ID: 0372763 Publication Model: Print Cited Medium: Internet ISSN: 1939-327X (Electronic) Linking ISSN: 00121797 NLM ISO Abbreviation: Diabetes Subsets: MEDLINE

Prevalence of Familial Melanoma Genes and Cancer Risk Among Genomically Ascertained Individuals.

Authors: Goldstein AM Kim J Haley JS et al.

Source: JAMA dermatology [JAMA Dermatol] 2026 Jul 01; Vol. 162 (7), pp. 692-700.

Publication Type: Journal Article

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589530 Publication Model: Print Cited Medium: Internet ISSN: 2168-6084 (Electronic) Linking ISSN: 21686068 NLM ISO Abbreviation: JAMA Dermatol Subsets: MEDLINE

Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment.

Authors: Kim J Ney G Frone MN et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jun; Vol. 28 (6), pp. 102561. Date of Electronic Publication: 2026 Mar 25.

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

TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.

Authors: de Andrade KC Pinto EM Zhao T et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Jun 02; Vol. 10 (1), pp. 46. Date of Electronic Publication: 2025 Jun 02.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Genomic ascertainment of PALB2-related cancer predisposition: PALB2-related cancer predisposition.

Authors: Stewart DR Kim J Haley JS et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Apr 04. Date of Electronic Publication: 2026 Apr 04.

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

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden.

Authors: Anderson M Ercelen D Richardson A et al.

Source: Arthritis & rheumatology (Hoboken, N.J.) [Arthritis Rheumatol] 2026 Jan; Vol. 78 (1), pp. 223-230. Date of Electronic Publication: 2025 Sep 21.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101623795 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2326-5205 (Electronic) Linking ISSN: 23265191 NLM ISO Abbreviation: Arthritis Rheumatol Subsets: MEDLINE; In Process

Genetic Landscape of Myelodysplastic Syndrome and Clonal Hematopoiesis: Insights From Whole Exome Sequencing of 90 000 Individuals.

Authors: Sarami I Haley JS Smelser DT et al.

Source: American journal of hematology [Am J Hematol] 2025 Dec; Vol. 100 (12), pp. 2448-2451. Date of Electronic Publication: 2025 Oct 30.

Publication Type: Letter

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7610369 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-8652 (Electronic) Linking ISSN: 03618609 NLM ISO Abbreviation: Am J Hematol Subsets: MEDLINE

Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.

Authors: Sargen MR Kim J Potjer TP et al.

Source: JAMA dermatology [JAMA Dermatol] 2023 Oct 01; Vol. 159 (10), pp. 1112-1118.

Publication Type: Journal Article; Research Support, N.I.H., Intramural

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589530 Publication Model: Print Cited Medium: Internet ISSN: 2168-6084 (Electronic) Linking ISSN: 21686068 NLM ISO Abbreviation: JAMA Dermatol Subsets: MEDLINE

Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.

Authors: Fiorica PN Golmard L Kim J et al.

Source: Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2025 Apr 14; Vol. 31 (8), pp. 1491-1503.

Publication Type: Journal Article

Journal Info: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 9502500 Publication Model: Print Cited Medium: Internet ISSN: 1557-3265 (Electronic) Linking ISSN: 10780432 NLM ISO Abbreviation: Clin Cancer Res Subsets: MEDLINE

Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts.

Authors: Hendricks RM Kim J Haley JS et al.

Source: Leukemia [Leukemia] 2025 Feb; Vol. 39 (2), pp. 400-411. Date of Electronic Publication: 2024 Nov 06.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5551 (Electronic) Linking ISSN: 08876924 NLM ISO Abbreviation: Leukemia Subsets: MEDLINE

A Genome-Wide Association Study and Rare Variant Analysis for Dupuytren Disease in a North American Population.

Authors: Grandizio LC Smelser DT Haley JS et al.

Source: The Journal of hand surgery [J Hand Surg Am] 2025 Feb; Vol. 50 (2), pp. 147-155. Date of Electronic Publication: 2024 Nov 18.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7609631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-6564 (Electronic) Linking ISSN: 03635023 NLM ISO Abbreviation: J Hand Surg Am Subsets: MEDLINE

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.

Authors: Beck DB Bodian DL Shah V et al.

Source: JAMA [JAMA] 2023 Jan 24; Vol. 329 (4), pp. 318-324.

Publication Type: Observational Study; Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Authors: Kim J Ney G Frone MN et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Oct 11. Date of Electronic Publication: 2024 Oct 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

Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans.

Authors: Sargen MR Kim J Haley JS et al.

Source: Genetics in medicine open [Genet Med Open] 2024 Sep 28; Vol. 2, pp. 101895. Date of Electronic Publication: 2024 Sep 28 (Print Publication: 2024).

Publication Type: Journal Article

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

Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study.

Authors: Deng J Altintas B Haley JS et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Mar; Vol. 26 (3), pp. 101042. Date of Electronic Publication: 2023 Dec 05.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural

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

Development of a Polygenic Risk Score to Predict Diverticulitis.

Authors: Schaeffer HD Smelser DT Rao HS et al.

Source: Diseases of the colon and rectum [Dis Colon Rectum] 2024 Feb 01; Vol. 67 (2), pp. 254-263. Date of Electronic Publication: 2023 Oct 11.

Publication Type: Observational Study; Video-Audio Media; Journal Article

Journal Info: Publisher: Lippincott Country of Publication: United States NLM ID: 0372764 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0358 (Electronic) Linking ISSN: 00123706 NLM ISO Abbreviation: Dis Colon Rectum Subsets: MEDLINE

A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.

Authors: Mirshahi UL Kim J Best AF et al.

Source: JAMA network open [JAMA Netw Open] 2021 Feb 01; Vol. 4 (2), pp. e210112. Date of Electronic Publication: 2021 Feb 01.

Publication Type: Journal Article; Research Support, N.I.H., Intramural

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.

Authors: de Andrade KC Strande NT Kim J et al.

Corporate Authors: de Andrade KC Strande NT Kim J et al.

Source: HGG advances [HGG Adv] 2024 Jan 11; Vol. 5 (1), pp. 100242. Date of Electronic Publication: 2023 Sep 29.

Publication Type: Journal Article

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

Intronic Germline DICER1 Variants in Patients With Sertoli-Leydig Cell Tumor.

Authors: Fraire CR Mallinger PR Hatton JN et al.

Source: JCO precision oncology [JCO Precis Oncol] 2023 Sep; Vol. 7, pp. e2300189.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural

Journal Info: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101705370 Publication Model: Print Cited Medium: Internet ISSN: 2473-4284 (Electronic) Linking ISSN: 24734284 NLM ISO Abbreviation: JCO Precis Oncol Subsets: MEDLINE