Search Results - "Smith-Simmer K"

Parents' perspectives of non-informative germline genetic testing in children with Juvenile Polyposis Syndrome.

Authors: Rud K Smith-Simmer K Weiss J et al.

Source: Journal of genetic counseling [J Genet Couns] 2025 Dec; Vol. 34 (6), pp. e70140.

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

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Breast cancers in monoallelic MUTYH germline mutation carriers have clinicopathological features overlapping with those in BRCA1 germline mutation carriers.

Authors: Keske A Weisman P Ospina-Romero M et al.

Source: Breast cancer research and treatment [Breast Cancer Res Treat] 2024 Feb; Vol. 204 (1), pp. 151-158. Date of Electronic Publication: 2023 Dec 07.

Publication Type: Journal Article

Journal Info: Publisher: Kluwer Academic Country of Publication: Netherlands NLM ID: 8111104 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7217 (Electronic) Linking ISSN: 01676806 NLM ISO Abbreviation: Breast Cancer Res Treat Subsets: MEDLINE

Concurrent high-grade glioma with cavernous malformations and pathogenic variants in PDCD10 and SMARCA4.

Authors: Glanz H Damodharan SN Smith-Simmer K et al.

Source: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2023 Nov; Vol. 39 (11), pp. 3311-3315. Date of Electronic Publication: 2023 Jun 16.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-0350 (Electronic) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE

Hematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome.

Authors: Vagher J Zakas A Donovan L et al.

Source: JCO precision oncology [JCO Precis Oncol] 2025 Jun; Vol. 9, pp. e2400860. Date of Electronic Publication: 2025 Jun 20.

Publication Type: Journal Article

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

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.

Authors: Sande CM Chen S Mitchell DV et al.

Source: The Journal of clinical investigation [J Clin Invest] 2025 Apr 03; Vol. 135 (8). Date of Electronic Publication: 2025 Apr 03 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Risk assessment and genetic counseling for hematologic malignancies-Practice resource of the National Society of Genetic Counselors.

Authors: Stewart BL Helber H Bannon SA et al.

Source: Journal of genetic counseling [J Genet Couns] 2025 Apr; Vol. 34 (2), pp. e1959. Date of Electronic Publication: 2024 Aug 27.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Implementation of and Systems-Level Barriers to Guideline-Driven Germline Genetic Evaluation in the Care of Patients With Myelodysplastic Syndrome and Acute Myeloid Leukemia.

Authors: Banaszak LG Cabral PL Smith-Simmer K et al.

Source: JCO precision oncology [JCO Precis Oncol] 2024 Jun; Vol. 8, pp. e2300518.

Publication Type: Journal Article

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

Implementation of a prospective screening strategy to identify adults with a telomere biology disorder among those undergoing lung transplant evaluation for interstitial lung disease.

Authors: Banaszak LG Smith-Simmer K Shoger K et al.

Source: Respiratory medicine [Respir Med] 2023 Dec; Vol. 220, pp. 107464. Date of Electronic Publication: 2023 Nov 10.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 8908438 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-3064 (Electronic) Linking ISSN: 09546111 NLM ISO Abbreviation: Respir Med Subsets: MEDLINE

A Case of Isolated Myeloid Sarcoma Associated With Germline EGFR T790M Variant: The Importance of Recognizing Potential Germline Variants on Somatic Tumor Sequencing Panels.

Authors: Walker M Folstad M Smith-Simmer K et al.

Source: Journal of hematology [J Hematol] 2022 Apr; Vol. 11 (2), pp. 71-76. Date of Electronic Publication: 2022 Apr 12.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elmer Press, Inc Country of Publication: Canada NLM ID: 101635099 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1927-1220 (Electronic) Linking ISSN: 19271212 NLM ISO Abbreviation: J Hematol Subsets: PubMed not MEDLINE

Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series.

Authors: Franke K Vagher J Boyle J et al.

Source: Clinical case reports [Clin Case Rep] 2022 Mar 01; Vol. 10 (3), pp. e05513. Date of Electronic Publication: 2022 Mar 01 (Print Publication: 2022).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: England NLM ID: 101620385 Publication Model: eCollection Cited Medium: Print ISSN: 2050-0904 (Print) Linking ISSN: 20500904 NLM ISO Abbreviation: Clin Case Rep Subsets: PubMed not MEDLINE

DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia

Authors: Churpek JE Smith-Simmer K Adam MP et al.

Source: 1993.

Source: In: GeneReviews^® Adam MP; Ardinger HH; Pagon RA; Wallace SE; Bean LJH; Gripp KW; Mirzaa GM; Amemiya A

Publication Type: Review

Journal Info: Publisher: University of Washington, Seattle Cited Medium: Internet