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1.

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.

Manolio, Teri A; Fowler, Douglas M; Starita, Lea M; Haendel, Melissa A; MacArthur, Daniel G; Biesecker, Leslie G; Worthey, Elizabeth; Chisholm, Rex L; Green, Eric D; Jacob, Howard J; McLeod, Howard L; Roden, Dan; Rodriguez, Laura Lyman; Williams, Marc S; Cooper, Gregory M; Cox, Nancy J; Herman, Gail E; Kingsmore, Stephen; Lo, Cecilia; Lutz, Cathleen; MacRae, Calum A; Nussbaum, Robert L; Ordovas, Jose M; Ramos, Erin M; Robinson, Peter N; Rubinstein, Wendy S; Seidman, Christine; Stranger, Barbara E; Wang, Haoyi; Westerfield, Monte; Bult, Carol.

Cell; 169(1): 6-12, 2017 03 23.

Artículo en Inglés | MEDLINE | ID: mdl-28340351

2.

Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.

Linder, Jodell E; Tao, Ran; Chung, Wendy K; Kiryluk, Krzysztof; Liu, Cong; Weng, Chunhua; Connolly, John J; Hakonarson, Hakon; Harr, Margaret; Leppig, Kathleen A; Jarvik, Gail P; Veenstra, David L; Aufox, Sharon; Chisholm, Rex L; Gordon, Adam S; Hoell, Christin; Rasmussen-Torvik, Laura J; Smith, Maureen E; Holm, Ingrid A; Miller, Erin M; Prows, Cynthia A; Elskeally, Omar; Kullo, Iftikhar J; Lee, Christopher; Jose, Sheethal; Manolio, Teri A; Rowley, Robb; Padi-Adjirackor, Nana Addo; Wilmayani, Ni Ketut; City, Brittany; Wei, Wei-Qi; Wiesner, Georgia L; Rahm, Alanna Kulchak; Williams, Janet L; Williams, Marc S; Peterson, Josh F.

Am J Hum Genet; 110(11): 1950-1958, 2023 11 02.

Artículo en Inglés | MEDLINE | ID: mdl-37883979

3.

Population Screening in Health Systems.

Williams, Marc S.

Annu Rev Genomics Hum Genet; 23: 549-567, 2022 08 31.

Artículo en Inglés | MEDLINE | ID: mdl-35175786

4.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata J M; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A.

Am J Hum Genet; 108(1): 8-15, 2021 01 07.

Artículo en Inglés | MEDLINE | ID: mdl-33417889

5.

Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?

Friedman, Jan M; Bombard, Yvonne; Carleton, Bruce; Issa, Amalia M; Knoppers, Bartha; Plon, Sharon E; Rahimzadeh, Vasiliki; Relling, Mary V; Williams, Marc S; van Karnebeek, Clara; Vears, Danya; Cornel, Martina C.

Genet Med; 26(2): 101033, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-38007624

6.

Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group.

Pak, Christine M; Gilmore, Marian J; Bulkley, Joanna E; Chakraborty, Pranesh; Dagan-Rosenfeld, Orit; Foreman, Ann Katherine M; Gollob, Michael H; Jenkins, Charisma L; Katz, Alexander E; Lee, Kristy; Meeks, Naomi; O'Daniel, Julianne M; Posey, Jennifer E; Rego, Shannon M; Shah, Neethu; Steiner, Robert D; Stergachis, Andrew B; Subramanian, Sai Lakshmi; Trotter, Tracy; Wallace, Kathleen; Williams, Marc S; Goddard, Katrina A B; Buchanan, Adam H; Manickam, Kandamurugu; Powell, Bradford; Ezzell Hunter, Jessica.

Genet Med; 26(8): 101164, 2024 May 14.

Artículo en Inglés | MEDLINE | ID: mdl-38757444

7.

Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.

Yu, Kristen D; Betts, Megan N; Urban, Gretchen M; Schwartz, Marci L B; Robinson, Tanisha O; Moyer, Robert J; Taddonio, Scott W; Vasudevan, Anasuya; Johns, Alicia; Sturm, Amy C; Kelly, Melissa A; Williams, Marc S; Poler, S Mark; Buchanan, Adam H.

Anesthesiology; 140(1): 52-61, 2024 Jan 01.

Artículo en Inglés | MEDLINE | ID: mdl-37787745

8.

Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis.

Guzauskas, Gregory F; Garbett, Shawn; Zhou, Zilu; Schildcrout, Jonathan S; Graves, John A; Williams, Marc S; Hao, Jing; Jones, Laney K; Spencer, Scott J; Jiang, Shangqing; Veenstra, David L; Peterson, Josh F.

Ann Intern Med; 176(5): 585-595, 2023 05.

Artículo en Inglés | MEDLINE | ID: mdl-37155986

9.

Management of Secondary Genomic Findings.

Katz, Alexander E; Nussbaum, Robert L; Solomon, Benjamin D; Rehm, Heidi L; Williams, Marc S; Biesecker, Leslie G.

Am J Hum Genet; 107(1): 3-14, 2020 07 02.

Artículo en Inglés | MEDLINE | ID: mdl-32619490

10.

Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups.

Dikilitas, Ozan; Schaid, Daniel J; Kosel, Matthew L; Carroll, Robert J; Chute, Christopher G; Denny, Joshua A; Fedotov, Alex; Feng, QiPing; Hakonarson, Hakon; Jarvik, Gail P; Lee, Ming Ta Michael; Pacheco, Jennifer A; Rowley, Robb; Sleiman, Patrick M; Stein, C Michael; Sturm, Amy C; Wei, Wei-Qi; Wiesner, Georgia L; Williams, Marc S; Zhang, Yanfei; Manolio, Teri A; Kullo, Iftikhar J.

Am J Hum Genet; 106(5): 707-716, 2020 05 07.

Artículo en Inglés | MEDLINE | ID: mdl-32386537

11.

Low adenoma burden in unselected patients with a pathogenic APC variant.

Schwiter, Rachel; Rocha, Heather; Johns, Alicia; Savatt, Juliann M; Diehl, David L; Kelly, Melissa A; Williams, Marc S; Buchanan, Adam H.

Genet Med; 25(12): 100949, 2023 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-37542411

12.

Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network.

Palmer, Melody R; Kim, Daniel S; Crosslin, David R; Stanaway, Ian B; Rosenthal, Elisabeth A; Carrell, David S; Cronkite, David J; Gordon, Adam; Du, Xiaomeng; Li, Yatong K; Williams, Marc S; Weng, Chunhua; Feng, Qiping; Li, Rongling; Pendergrass, Sarah A; Hakonarson, Hakon; Fasel, David; Sohn, Sunghwan; Sleiman, Patrick; Handelman, Samuel K; Speliotes, Elizabeth; Kullo, Iftikhar J; Larson, Eric B; Jarvik, Gail P.

Genet Epidemiol; 45(1): 4-15, 2021 02.

Artículo en Inglés | MEDLINE | ID: mdl-32964493

13.

Early Lessons from the Implementation of Genomic Medicine Programs.

Williams, Marc S.

Annu Rev Genomics Hum Genet; 20: 389-411, 2019 08 31.

Artículo en Inglés | MEDLINE | ID: mdl-30811224

14.

The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.

Kumuthini, Judit; Zick, Brittany; Balasopoulou, Angeliki; Chalikiopoulou, Constantina; Dandara, Collet; El-Kamah, Ghada; Findley, Laura; Katsila, Theodora; Li, Rongling; Maceda, Ebner Bon; Monye, Henrietta; Rada, Gabriel; Thong, Meow-Keong; Wanigasekera, Thilina; Kennel, Hannah; Marimuthu, Veeramani; Williams, Marc S; Al-Mulla, Fahd; Abramowicz, Marc.

Hum Genet; 141(11): 1697-1704, 2022 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-35488921

15.

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Savatt, Juliann M; Ortiz, Nicole M; Thone, Gretchen M; McDonald, Whitney S; Kelly, Melissa A; Berry, Alexander S F; Alvi, Madiha M; Hallquist, Miranda L G; Malinowski, Jennifer; Purdy, Nicholas C; Williams, Marc S; Sturm, Amy C; Buchanan, Adam H.

BMC Med; 20(1): 205, 2022 06 07.

Artículo en Inglés | MEDLINE | ID: mdl-35668420

16.

Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States.

Guzauskas, Gregory F; Jiang, Shangqing; Garbett, Shawn; Zhou, Zilu; Spencer, Scott J; Snyder, Susan R; Graves, John A; Williams, Marc S; Hao, Jing; Peterson, Josh F; Veenstra, David L.

Genet Med; 24(5): 1017-1026, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-35227606

17.

Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.

Zouk, Hana; Yu, Wanfeng; Oza, Andrea; Hawley, Megan; Vijay Kumar, Prathik K; Koch, Christopher; Mahanta, Lisa M; Harley, John B; Jarvik, Gail P; Karlson, Elizabeth W; Leppig, Kathleen A; Myers, Melanie F; Prows, Cynthia A; Williams, Marc S; Weiss, Scott T; Lebo, Matthew S; Rehm, Heidi L.

Genet Med; 24(2): 454-462, 2022 02.

Artículo en Inglés | MEDLINE | ID: mdl-34906510

18.

Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.

Sherafati, Alborz; Elsekaily, Omar; Saadatagah, Seyedmohammad; Kochan, David C; Lee, Christopher; Wiesner, Georgia L; Liu, Cong; Dellefave-Castillo, Lisa; Namjou, Bahram; Perez, Emma F; Salvati, Zachary M; Connolly, John J; Hakonarson, Hakon; Williams, Marc S; Jarvik, Gail P; Chung, Wendy K; McNally, Elizabeth M; Manolio, Teri A; Kullo, Iftikhar J.

Genet Med; 24(10): 2123-2133, 2022 10.

Artículo en Inglés | MEDLINE | ID: mdl-35943490

19.

ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.

Hunter, Jessica Ezzell; Jenkins, Charisma L; Bulkley, Joanna E; Gilmore, Marian J; Lee, Kristy; Pak, Christine M; Wallace, Kathleen E; Buchanan, Adam H; Foreman, Ann Katherine M; Freed, Amanda S; Goehringer, Scott; Manickam, Kandamurugu; Meeks, Naomi J L; Ramos, Erin M; Shah, Neethu; Steiner, Robert D; Subramanian, Sai Lakshmi; Trotter, Tracy; Webber, Elizabeth M; Williams, Marc S; Goddard, Katrina A B; Powell, Bradford C.

Genet Med; 24(6): 1328-1335, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35341655

20.

The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.

Leppig, Kathleen A; Kulchak Rahm, Alanna; Appelbaum, Paul; Aufox, Sharon; Bland, Harris T; Buchanan, Adam; Christensen, Kurt D; Chung, Wendy K; Clayton, Ellen Wright; Crosslin, David; Denny, Josh; DeVange, Shannon; Gordon, Adam; Green, Robert C; Hakonarson, Hakon; Harr, Margaret H; Henrikson, Nora; Hoell, Christin; Holm, Ingrid A; Kullo, Iftikhar J; Jarvik, Gail P; Lammers, Philip E; Larson, Eric B; Lindor, Noralane M; Marasa, Maddalena; Myers, Melanie F; Perez, Emma; Peterson, Josh F; Pratap, Siddharth; Prows, Cynthia A; Ralston, James D; Rasouly, Hila Milo; Roden, Dan M; Sharp, Richard R; Singh, Rajbir; Shaibi, Gabriel; Smith, Maureen E; Sturm, Amy; Thiese, Heidi A; Van Driest, Sara L; Williams, Janet; Williams, Marc S; Wynn, Julia; Blout Zawatsky, Carrie L; Wiesner, Georgia L.

Genet Med; 24(5): 1130-1138, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-35216901

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