154 related articles for article (PubMed ID: 33576083)
1. Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.
Kelly MA; Leader JB; Wain KE; Bodian D; Oetjens MT; Ledbetter DH; Martin CL; Strande NT
Am J Med Genet C Semin Med Genet; 2021 Mar; 187(1):83-94. PubMed ID: 33576083
[TBL] [Abstract][Full Text] [Related]
2. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K; Buchanan AH; Schwartz MLB; Hallquist MLG; Williams JL; Rahm AK; Rocha H; Savatt JM; Evans AE; Butry LM; Lazzeri AL; Lindbuchler DM; Flansburg CN; Leeming R; Vogel VG; Lebo MS; Mason-Suares HM; Hoskinson DC; Abul-Husn NS; Dewey FE; Overton JD; Reid JG; Baras A; Willard HF; McCormick CZ; Krishnamurthy SB; Hartzel DN; Kost KA; Lavage DR; Sturm AC; Frisbie LR; Person TN; Metpally RP; Giovanni MA; Lowry LE; Leader JB; Ritchie MD; Carey DJ; Justice AE; Kirchner HL; Faucett WA; Williams MS; Ledbetter DH; Murray MF
JAMA Netw Open; 2018 Sep; 1(5):e182140. PubMed ID: 30646163
[TBL] [Abstract][Full Text] [Related]
3. A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System.
Jones LK; Strande NT; Calvo EM; Chen J; Rodriguez G; McCormick CZ; Hallquist MLG; Savatt JM; Rocha H; Williams MS; Sturm AC; Buchanan AH; Glasgow RE; Martin CL; Rahm AK
Front Genet; 2022; 13():883073. PubMed ID: 35692820
[No Abstract] [Full Text] [Related]
4. The burden of pathogenic variants in clinically actionable genes in a founder population.
Lynch MT; Maloney KA; Pollin TI; Streeten EA; Xu H; ; Shuldiner AR; Van Hout CV; Gonzaga-Jauregui C; Mitchell BD
Am J Med Genet A; 2021 Nov; 185(11):3476-3484. PubMed ID: 34467620
[TBL] [Abstract][Full Text] [Related]
5. Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.
Martin CL; Wain KE; Oetjens MT; Tolwinski K; Palen E; Hare-Harris A; Habegger L; Maxwell EK; Reid JG; Walsh LK; Myers SM; Ledbetter DH
JAMA Psychiatry; 2020 Dec; 77(12):1276-1285. PubMed ID: 32697297
[TBL] [Abstract][Full Text] [Related]
6. Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents.
Savatt JM; Wagner JK; Joffe S; Rahm AK; Williams MS; Bradbury AR; Davis FD; Hergenrather J; Hu Y; Kelly MA; Kirchner HL; Meyer MN; Mozersky J; O'Dell SM; Pervola J; Seeley A; Sturm AC; Buchanan AH
BMC Pediatr; 2020 May; 20(1):222. PubMed ID: 32414353
[TBL] [Abstract][Full Text] [Related]
7. Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A; Valero RA; Jimenez-Almazan J; Pardo PM; Fabiani M; Jiménez D; Simon C; Rodriguez JM
PLoS Genet; 2019 Oct; 15(10):e1008409. PubMed ID: 31589614
[TBL] [Abstract][Full Text] [Related]
8. The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.
Carey DJ; Fetterolf SN; Davis FD; Faucett WA; Kirchner HL; Mirshahi U; Murray MF; Smelser DT; Gerhard GS; Ledbetter DH
Genet Med; 2016 Sep; 18(9):906-13. PubMed ID: 26866580
[TBL] [Abstract][Full Text] [Related]
9. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Schwartz MLB; McCormick CZ; Lazzeri AL; Lindbuchler DM; Hallquist MLG; Manickam K; Buchanan AH; Rahm AK; Giovanni MA; Frisbie L; Flansburg CN; Davis FD; Sturm AC; Nicastro C; Lebo MS; Mason-Suares H; Mahanta LM; Carey DJ; Williams JL; Williams MS; Ledbetter DH; Faucett WA; Murray MF
Am J Hum Genet; 2018 Sep; 103(3):328-337. PubMed ID: 30100086
[TBL] [Abstract][Full Text] [Related]
10. At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J; Liu R; Bean L; Guo F; Nallamilli BRR; Guruju N; Chen-Deutsch X; Yousaf R; Fura K; Chin E; Mathur A; Ma Z; Carmichael J; da Silva C; Collins C; Hegde M
JAMA Netw Open; 2023 Jul; 6(7):e2326445. PubMed ID: 37523181
[TBL] [Abstract][Full Text] [Related]
11. Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings.
Reble E; Gutierrez Salazar M; Zakoor KR; Khalouei S; Clausen M; Kodida R; Shickh S; Mighton C; Cohn I; Schrader KA; Kim RH; Lerner-Ellis J; Bombard Y
Hum Genet; 2021 Mar; 140(3):493-504. PubMed ID: 32892247
[TBL] [Abstract][Full Text] [Related]
12. Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Savatt JM; Ortiz NM; Thone GM; McDonald WS; Kelly MA; Berry ASF; Alvi MM; Hallquist MLG; Malinowski J; Purdy NC; Williams MS; Sturm AC; Buchanan AH
BMC Med; 2022 Jun; 20(1):205. PubMed ID: 35668420
[TBL] [Abstract][Full Text] [Related]
13. Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV; Esplin ED; Aguilar SJ; Hatchell KE; Ormond KE; Hanson-Kahn A; Atwal PS; Macklin-Mantia S; Hines S; Sak CW; Tucker S; Bleyl SB; Hulick PJ; Gordon OK; Velsher L; Gu JYJ; Weissman SM; Kruisselbrink T; Abel C; Kettles M; Slavotinek A; Mendelsohn BA; Green RC; Aradhya S; Nussbaum RL
BMC Med; 2021 Aug; 19(1):199. PubMed ID: 34404389
[TBL] [Abstract][Full Text] [Related]
14. Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML; Finnila CR; Bowling KM; Brothers KB; Neu MB; Amaral MD; Hiatt SM; East KM; Gray DE; Lawlor JMJ; Kelley WV; Lose EJ; Rich CA; Simmons S; Levy SE; Myers RM; Barsh GS; Bebin EM; Cooper GM
Genet Med; 2018 Dec; 20(12):1635-1643. PubMed ID: 29790872
[TBL] [Abstract][Full Text] [Related]
15. High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S; Dagan-Rosenfeld O; Zhou W; Sailani MR; Limcaoco P; Colbert E; Avina M; Wheeler J; Craig C; Salins D; Röst HL; Dunn J; McLaughlin T; Steinmetz LM; Bernstein JA; Snyder MP
Cold Spring Harb Mol Case Stud; 2018 Dec; 4(6):. PubMed ID: 30487145
[TBL] [Abstract][Full Text] [Related]
16. Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.
Sundercombe SL; Berbic M; Evans CA; Cliffe C; Elakis G; Temple SEL; Selvanathan A; Ewans L; Quayum N; Nixon CY; Dias KR; Lang S; Richards A; Goh S; Wilson M; Mowat D; Sachdev R; Sandaradura S; Walsh M; Farrar MA; Walsh R; Fletcher J; Kirk EP; Teunisse GM; Schofield D; Buckley MF; Zhu Y; Roscioli T
J Mol Diagn; 2021 Jul; 23(7):894-905. PubMed ID: 33962052
[TBL] [Abstract][Full Text] [Related]
17. Genetics Visit Uptake Among Individuals Receiving Clinically Actionable Genomic Screening Results.
Schwartz MLB; McDonald WS; Hallquist MLG; Hu Y; McCormick CZ; Walters NL; Tsun J; Zimmerman K; Decker A; Gray C; Malinowski J; Sturm AC; Buchanan AH
JAMA Netw Open; 2024 Mar; 7(3):e242388. PubMed ID: 38488794
[TBL] [Abstract][Full Text] [Related]
18. Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.
Pranckeviciene E; Racacho L; Ghani M; Nfonsam L; Potter R; Sinclair-Bourque E; Mettler G; Smith A; Bronicki L; Huang L; Jarinova O
Hum Genet; 2021 Feb; 140(2):289-297. PubMed ID: 32627054
[TBL] [Abstract][Full Text] [Related]
19. Estimating diagnostic noise in panel-based genomic analysis.
Beaumont RN; Wright CF
Genet Med; 2022 Oct; 24(10):2042-2050. PubMed ID: 35920826
[TBL] [Abstract][Full Text] [Related]
20. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Kalia SS; Adelman K; Bale SJ; Chung WK; Eng C; Evans JP; Herman GE; Hufnagel SB; Klein TE; Korf BR; McKelvey KD; Ormond KE; Richards CS; Vlangos CN; Watson M; Martin CL; Miller DT
Genet Med; 2017 Feb; 19(2):249-255. PubMed ID: 27854360
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
