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The WISDOM study: a new approach to screening can and should be tested. Breast Cancer Res Treat. 2021 Oct; 189(3):593-598.
Esserman L, Eklund M, Veer LV, Shieh Y, Tice J, Ziv E, Blanco A, Kaplan C, Hiatt R, Fiscalini AS, Yau C, Scheuner M, Naeim A, Wenger N, Lee V, Heditsian D, Brain S, Parker BA, LaCroix AZ, Madlensky L, Hogarth M, Borowsky A, Anton-Culver H, Kaster A, Olopade OI, Sheth D, Garcia A, Lancaster R, Plaza M. PMID: 34529196.
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PubMed Mentions:
14 Fields:
Translation:
HumansPHPublic Health
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Influence of payer coverage and out-of-pocket costs on ordering of NGS panel tests for hereditary cancer in diverse settings. J Genet Couns. 2022 02; 31(1):130-139.
Lin GA, Trosman JR, Douglas MP, Weldon CB, Scheuner MT, Kurian A, Phillips KA. PMID: 34231930; PMCID: PMC8893352.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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Primary care providers' responses to unsolicited Lynch syndrome secondary findings of varying clinical significance. Genet Med. 2021 10; 23(10):1977-1983.
Galbraith LN, Preys CL, Rehm HL, Scheuner MT, Hajek C, Green RC, Christensen KD. PMID: 34113000; PMCID: PMC8487923.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021 May 14; 12(1):2986.
Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Bialkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL, GEMO Study Collaborators, EMBRACE Collaborators, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC. PMID: 33990587; PMCID: PMC8121813.
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PubMed Mentions: Fields:
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Laboratory business models and practices: implications for availability and access to germline genetic testing. Genet Med. 2021 09; 23(9):1681-1688.
Scheuner MT, Douglas MP, Sales P, Ackerman SL, Phillips KA. PMID: 33958748; PMCID: PMC8460432.
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Translation:
HumansCells
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DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 06; 23(6):979-988.
Bean LJH, Scheuner MT, Murray MF, Biesecker LG, Green RC, Monaghan KG, Palomaki GE, Sharp RR, Trotter TL, Watson MS, Powell CM, ACMG Board of Directors. PMID: 33790423.
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PubMed Mentions:
13 Fields:
Translation:
HumansPHPublic Health
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DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 06; 23(6):989-995.
Murray MF, Giovanni MA, Doyle DL, Harrison SM, Lyon E, Manickam K, Monaghan KG, Rasmussen SA, Scheuner MT, Palomaki GE, Watson MS, ACMG Board of Directors. PMID: 33727704.
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PubMed Mentions:
26 Fields:
Translation:
Humans
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021 02 17; 12(1):1078.
Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Bialkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL, GEMO Study Collaborators, EMBRACE Collaborators, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC. PMID: 33597508; PMCID: PMC7890067.
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PubMed Mentions:
15 Fields:
Translation:
Humans
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Identifying End Users' Preferences about Structuring Pharmacogenetic Test Orders in an Electronic Health Record System. J Mol Diagn. 2020 10; 22(10):1264-1271.
Hull LE, Vassy JL, Stone A, Chanfreau-Coffinier CC, Heise CW, Pratt VM, Przygodzki R, Voils CI, Voora D, Wang-Rodriguez J, Schichman SA, Scheuner MT. PMID: 32980074; PMCID: PMC7527867.
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Translation:
Humans
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Integrating Germline Genetics Into Precision Oncology Practice in the Veterans Health Administration: Challenges and Opportunities. Fed Pract. 2020 Aug; 37(Suppl 4):S82-S88.
Scheuner MT, Myrie K, Peredo J, Hoffman-Hogg L, Lundquist M, Guerra SL, Ball D. PMID: 32908356; PMCID: PMC7473729.
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PubMed Mentions:
6
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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat Genet. 2020 06; 52(6):572-581.
Zhang H, Ahearn TU, Lecarpentier J, Barnes D, Beesley J, Qi G, Jiang X, O'Mara TA, Zhao N, Bolla MK, Dunning AM, Dennis J, Wang Q, Ful ZA, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Arun BK, Auer PL, Azzollini J, Barrowdale D, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blanco A, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Bondavalli D, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brucker SY, Brüning T, Burwinkel B, Buys SS, Byers H, Caldés T, Caligo MA, Calvello M, Campa D, Castelao JE, Chang-Claude J, Chanock SJ, Christiaens M, Christiansen H, Chung WK, Claes KBM, Clarke CL, Cornelissen S, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Diez O, Domchek SM, Dörk T, Dwek M, Eccles DM, Ekici AB, Evans DG, Fasching PA, Figueroa J, Foretova L, Fostira F, Friedman E, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Häberle L, Hahnen E, Haiman CA, Hake CR, Hall P, Hamann U, Harkness EF, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Holleczek B, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Howell A, Huebner H, Hulick PJ, Imyanitov EN, kConFab Investigators, ABCTB Investigators, Isaacs C, Izatt L, Jager A, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khan S, Khusnutdinova E, Kitahara CM, Ko YD, Konstantopoulou I, Koppert LB, Koutros S, Kristensen VN, Laenkholm AV, Lambrechts D, Larsson SC, Laurent-Puig P, Lazaro C, Lazarova E, Lejbkowicz F, Leslie G, Lesueur F, Lindblom A, Lissowska J, Lo WY, Loud JT, Lubinski J, Lukomska A, MacInnis RJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Matricardi L, McGuffog L, McLean C, Mebirouk N, Meindl A, Menon U, Miller A, Mingazheva E, Montagna M, Mulligan AM, Mulot C, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Nielsen FC, Nikitina-Zake L, Nodora J, Offit K, Olah E, Olopade OI, Olsson H, Orr N, Papi L, Papp J, Park-Simon TW, Parsons MT, Peissel B, Peixoto A, Peshkin B, Peterlongo P, Peto J, Phillips KA, Piedmonte M, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Prokofyeva D, Rack B, Radice P, Ramus SJ, Rantala J, Rashid MU, Rennert G, Rennert HS, Risch HA, Romero A, Rookus MA, Rübner M, Rüdiger T, Saloustros E, Sampson S, Sandler DP, Sawyer EJ, Scheuner MT, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schöttker B, Schürmann P, Senter L, Sharma P, Sherman ME, Shu XO, Singer CF, Smichkoska S, Soucy P, Southey MC, Spinelli JJ, Stone J, Stoppa-Lyonnet D, EMBRACE Study, GEMO Study Collaborators, Swerdlow AJ, Szabo CI, Tamimi RM, Tapper WJ, Taylor JA, Teixeira MR, Terry M, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van den Ouweland AMW, van der Kolk LE, van Veen EM, vanRensburg EJ, Vega A, Wappenschmidt B, Weinberg CR, Weitzel JN, Wildiers H, Winqvist R, Wolk A, Yang XR, Yannoukakos D, Zheng W, Zorn KK, Milne RL, Kraft P, Simard J, Pharoah PDP, Michailidou K, Antoniou AC, Schmidt MK, Chenevix-Trench G, Easton DF, Chatterjee N, García-Closas M. PMID: 32424353; PMCID: PMC7808397.
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PubMed Mentions:
195 Fields:
Translation:
Humans
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Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 07; 22(7):1142-1148.
Li MM, Chao E, Esplin ED, Miller DT, Nathanson KL, Plon SE, Scheuner MT, Stewart DR, ACMG Professional Practice and Guidelines Committee. PMID: 32321997.
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PubMed Mentions:
36 Fields:
Translation:
HumansCells
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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med. 2020 06; 22(6):986-1004.
Malinowski J, Miller DT, Demmer L, Gannon J, Pereira EM, Schroeder MC, Scheuner MT, Tsai AC, Hickey SE, Shen J, ACMG Professional Practice and Guidelines Committee. PMID: 32203227; PMCID: PMC7222126.
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PubMed Mentions:
33 Fields:
Translation:
Humans
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet. 2020 01; 52(1):56-73.
Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, Kar S, Pooley KA, Dennis J, Michailidou K, Turman C, Soucy P, Lemaçon A, Lush M, Tyrer JP, Ghoussaini M, Moradi Marjaneh M, Jiang X, Agata S, Aittomäki K, Alonso MR, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Aronson KJ, Arun BK, Auber B, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bialkowska K, Blanco AM, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Bosse K, Brauch H, Brenner H, Briceno I, Brock IW, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldés T, Caligo MA, Camp NJ, Campbell I, Canzian F, Carroll JS, Carter BD, Castelao JE, Chiquette J, Christiansen H, Chung WK, Claes KBM, Clarke CL, GEMO Study Collaborators, EMBRACE Collaborators, Collée JM, Cornelissen S, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Domchek SM, Dörk T, Dos-Santos-Silva I, Droit A, Dubois S, Dumont M, Duran M, Durcan L, Dwek M, Eccles DM, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Floris G, Flyger H, Foretova L, Foulkes WD, Friedman E, Fritschi L, Frost D, Gabrielson M, Gago-Dominguez M, Gambino G, Ganz PA, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Georgoulias V, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Tibiletti MG, Greene MH, Grip M, Gronwald J, Grundy A, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hartikainen JM, Hartman M, He W, Healey CS, Heemskerk-Gerritsen BAM, Heyworth J, Hillemanns P, Hogervorst FBL, Hollestelle A, Hooning MJ, Hopper JL, Howell A, Huang G, Hulick PJ, Imyanitov EN, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Isaacs C, Iwasaki M, Jager A, Jakimovska M, Jakubowska A, James PA, Janavicius R, Jankowitz RC, John EM, Johnson N, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kang D, Kapoor PM, Karlan BY, Keeman R, Kerin MJ, Khusnutdinova E, Kiiski JI, Kirk J, Kitahara CM, Ko YD, Konstantopoulou I, Kosma VM, Koutros S, Kubelka-Sabit K, Kwong A, Kyriacou K, Laitman Y, Lambrechts D, Lee E, Leslie G, Lester J, Lesueur F, Lindblom A, Lo WY, Long J, Lophatananon A, Loud JT, Lubinski J, MacInnis RJ, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Matsuo K, Maurer T, Mavroudis D, Mayes R, McGuffog L, McLean C, Mebirouk N, Meindl A, Miller A, Miller N, Montagna M, Moreno F, Muir K, Mulligan AM, Muñoz-Garzon VM, Muranen TA, Narod SA, Nassir R, Nathanson KL, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nikitina-Zake L, Norman A, Offit K, Olah E, Olopade OI, Olsson H, Orr N, Osorio A, Pankratz VS, Papp J, Park SK, Park-Simon TW, Parsons MT, Paul J, Pedersen IS, Peissel B, Peshkin B, Peterlongo P, Peto J, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Prokofyeva D, Pujana MA, Pylkäs K, Radice P, Ramus SJ, Rantala J, Rau-Murthy R, Rennert G, Risch HA, Robson M, Romero A, Rossing M, Saloustros E, Sánchez-Herrero E, Sandler DP, Santamariña M, Saunders C, Sawyer EJ, Scheuner MT, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schöttker B, Schürmann P, Scott C, Scott RJ, Senter L, Seynaeve CM, Shah M, Sharma P, Shen CY, Shu XO, Singer CF, Slavin TP, Smichkoska S, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Stoppa-Lyonnet D, Sutter C, Swerdlow AJ, Tamimi RM, Tan YY, Tapper WJ, Taylor JA, Teixeira MR, Tengström M, Teo SH, Terry MB, Teulé A, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Torres-Mejía G, Troester MA, Truong T, et al. PMID: 31911677; PMCID: PMC6974400.
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PubMed Mentions:
85 Fields:
Translation:
HumansCells
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. NPJ Breast Cancer. 2019; 5:38.
Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM, ABCTB Investigators, Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, GEMO Study Collaborators, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN, KConFab, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surrallés J, Peterlongo P. PMID: 31700994; PMCID: PMC6825205.
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PubMed Mentions:
18
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An electronic family health history tool to identify and manage patients at increased risk for colorectal cancer: protocol for a randomized controlled trial. Trials. 2019 Oct 07; 20(1):576.
Goldstein KM, Fisher DA, Wu RR, Orlando LA, Coffman CJ, Grubber JM, Rakhra-Burris T, Wang V, Scheuner MT, Sperber N, Datta SK, Nelson RE, Strawbridge E, Provenzale D, Hauser ER, Voils CI. PMID: 31590688; PMCID: PMC6781340.
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PubMed Mentions:
4 Fields:
Translation:
HumansCTClinical Trials
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Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2019 07; 121(2):180-192.
Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Bialkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubinski J, Lukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D, KConFab Investigators, HEBON Investigators, GEMO Study Collaborators, EMBRACE Collaborators, Antoniou AC, Goldgar DE, Olopade OI, Chenevix-Trench G, Rebbeck TR, Huo D, CIMBA. PMID: 31213659; PMCID: PMC6738050.
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PubMed Mentions:
9 Fields:
Translation:
Humans
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A case of Fragile X-associated tremor/ataxia syndrome (FXTAS). J Clin Neurosci. 2019 Aug; 66:269-270.
Mishra SK, Khosa S, Trikamji B, Khanli HM, Scheuner MT, Jamal NI, Hanssen AM. PMID: 31178302.
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Humans
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Response to Gammal et al. Genet Med. 2019 08; 21(8):1888-1889.
Vassy JL, Stone A, Callaghan JT, Mendes M, Meyer LJ, Pratt VM, Przygodzki RM, Scheuner MT, Wang-Rodriguez J, Schichman SA, VHA Clinical Pharmacogenetics Subcommittee. PMID: 30635623.
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Humans
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Stakeholders' views on the value of outcomes from clinical genetic and genomic interventions. Genet Med. 2019 06; 21(6):1371-1380.
Scheuner MT, Russell MM, Chanfreau-Coffinier C, Peredo J, Yano EM, Hamilton AB, Lerner B, Provenzale D, Knight SJ, Voils CI. PMID: 30377384.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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A logic model for precision medicine implementation informed by stakeholder views and implementation science. Genet Med. 2019 05; 21(5):1139-1154.
Chanfreau-Coffinier C, Peredo J, Russell MM, Yano EM, Hamilton AB, Lerner B, Provenzale D, Knight SJ, Voils CI, Scheuner MT. PMID: 30353149.
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PubMed Mentions:
15 Fields:
Translation:
Humans
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Pharmacogenetic testing in the Veterans Health Administration (VHA): policy recommendations from the VHA Clinical Pharmacogenetics Subcommittee. Genet Med. 2019 02; 21(2):382-390.
Vassy JL, Stone A, Callaghan JT, Mendes M, Meyer LJ, Pratt VM, Przygodzki RM, Scheuner MT, Wang-Rodriguez J, Schichman SA, VHA Clinical Pharmacogenetics Subcommittee. PMID: 29858578; PMCID: PMC6274593.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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Precision Medicine for CRC Patients in the Veteran Population: State-of-the-Art, Challenges and Research Directions. Dig Dis Sci. 2018 05; 63(5):1123-1138.
Mohapatra SS, Batra SK, Bharadwaj S, Bouvet M, Cosman B, Goel A, Jogunoori W, Kelley MJ, Mishra L, Mishra B, Mohapatra S, Patel B, Pisegna JR, Raufman JP, Rao S, Roy H, Scheuner M, Singh S, Vidyarthi G, White J. PMID: 29572615; PMCID: PMC5895694.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Basic vs More Complex Definitions of Family History in the Prediction of Coronary Heart Disease: The Multi-Ethnic Study of Atherosclerosis. Mayo Clin Proc. 2018 09; 93(9):1213-1223.
Patel J, Al Rifai M, Scheuner MT, Shea S, Blumenthal RS, Nasir K, Blaha MJ, McEvoy JW. PMID: 29555305; PMCID: PMC6129200.
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PubMed Mentions:
21 Fields:
Translation:
HumansCTClinical Trials
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Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing. JIMD Rep. 2018; 41:47-51.
Zeiger WA, Jamal NI, Scheuner MT, Pittman P, Raymond KM, Morra M, Mishra SK. PMID: 29453517; PMCID: PMC6122056.
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The value of genetic testing: beyond clinical utility. Genet Med. 2017 07; 19(7):763-771.
Lerner B, Marshall N, Oishi S, Lanto A, Lee M, Hamilton AB, Yano EM, Scheuner MT. PMID: 27977007.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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Electronic health record interventions at the point of care improve documentation of care processes and decrease orders for genetic tests commonly ordered by nongeneticists. Genet Med. 2017 01; 19(1):112-120.
Scheuner MT, Peredo J, Tangney K, Schoeff D, Sale T, Lubick-Goldzweig C, Hamilton A, Hilborne L, Lee M, Mittman B, Yano EM, Lubin IM. PMID: 27362912; PMCID: PMC6504173.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene. Oral Surg Oral Med Oral Pathol Oral Radiol. 2016 May; 121(5):e123-8.
Duong HA, Le KT, Soulema AL, Yueh RH, Scheuner MT, Holick MF, Christensen R, Tajima TL, Leung AM, Mallya SM. PMID: 27068316; PMCID: PMC4830924.
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PubMed Mentions:
13 Fields:
Translation:
Humans
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Securing and Documenting Cancer Family History in the Age of the Electronic Medical Record. Surg Oncol Clin N Am. 2015 Oct; 24(4):639-52.
Venne VL, Scheuner MT. PMID: 26363534.
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Humans
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Coronary Artery Calcium Improves Risk Assessment in Adults With a Family History of Premature Coronary Heart Disease: Results From Multiethnic Study of Atherosclerosis. Circ Cardiovasc Imaging. 2015 Jun; 8(6):e003186.
Patel J, Al Rifai M, Blaha MJ, Budoff MJ, Post WS, Polak JF, Bluemke DA, Scheuner MT, Kronmal RA, Blumenthal RS, Nasir K, McEvoy JW. PMID: 26047825; PMCID: PMC5580027.
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PubMed Mentions:
16 Fields:
Translation:
Humans
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Assessing multilevel determinants of adoption and implementation of genomic medicine: an organizational mixed-methods approach. Genet Med. 2015 Nov; 17(11):919-26.
Oishi SM, Marshall N, Hamilton AB, Yano EM, Lerner B, Scheuner MT. PMID: 25741861.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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Reporting genomic secondary findings: ACMG members weigh in. Genet Med. 2015 Jan; 17(1):27-35.
Scheuner MT, Peredo J, Benkendorf J, Bowdish B, Feldman G, Fleisher L, Mulvihill JJ, Watson M, Herman GE, Evans J. PMID: 25394173.
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PubMed Mentions:
24 Fields:
Translation:
Humans
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Delivery of clinical genetic consultative services in the Veterans Health Administration. Genet Med. 2014 Aug; 16(8):609-19.
Scheuner MT, Marshall N, Lanto A, Hamilton AB, Oishi S, Lerner B, Lee M, Yano EM. PMID: 24503778.
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PubMed Mentions:
9 Fields:
Translation:
Humans
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Factors influencing organizational adoption and implementation of clinical genetic services. Genet Med. 2014 Mar; 16(3):238-45.
Hamilton AB, Oishi S, Yano EM, Gammage CE, Marshall NJ, Scheuner MT. PMID: 23949572.
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PubMed Mentions:
37 Fields:
Translation:
Humans
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A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians. Genet Med. 2014 Jan; 16(1):60-9.
Scheuner MT, Hamilton AB, Peredo J, Sale TJ, Austin C, Gilman SC, Bowen MS, Goldzweig CL, Lee M, Mittman BS, Yano EM. PMID: 23765051.
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PubMed Mentions:
25 Fields:
Translation:
Humans
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Effective communication of molecular genetic test results to primary care providers. Genet Med. 2013 Jun; 15(6):444-9.
Scheuner MT, Edelen MO, Hilborne LH, Lubin IM, RAND Molecular Genetic Test Report Advisory Board. PMID: 23222660.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial. Trials. 2012 Aug 01; 13:121.
Voils CI, Coffman CJ, Edelman D, Maciejewski ML, Grubber JM, Sadeghpour A, Cho A, McKenzie J, Blanpain F, Scheuner M, Sandelowski M, Gallagher MP, Ginsburg GS, Yancy WS. PMID: 22852560; PMCID: PMC3464684.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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A report template for molecular genetic tests designed to improve communication between the clinician and laboratory. Genet Test Mol Biomarkers. 2012 Jul; 16(7):761-9.
Scheuner MT, Hilborne L, Brown J, Lubin IM, members of the RAND Molecular Genetic Test Report Advisory Board. PMID: 22731646.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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Multilevel research and the challenges of implementing genomic medicine. J Natl Cancer Inst Monogr. 2012 May; 2012(44):112-20.
Khoury MJ, Coates RJ, Fennell ML, Glasgow RE, Scheuner MT, Schully SD, Williams MS, Clauser SB. PMID: 22623603; PMCID: PMC3482965.
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PubMed Mentions:
26 Fields:
Translation:
Humans
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A graphical method for assessing risk factor threshold values using the generalized additive model: the multi-ethnic study of atherosclerosis. Health Serv Outcomes Res Methodol. 2012 Mar; 12(1):62-79.
Setodji CM, Scheuner M, Pankow JS, Blumenthal RS, Chen H, Keeler E. PMID: 22593642; PMCID: PMC3351005.
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PubMed Mentions:
7
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Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting. Genet Med. 2012 Jan; 14(1):152-62.
Bellcross CA, Bedrosian SR, Daniels E, Duquette D, Hampel H, Jasperson K, Joseph DA, Kaye C, Lubin I, Meyer LJ, Reyes M, Scheuner MT, Schully SD, Senter L, Stewart SL, St Pierre J, Westman J, Wise P, Yang VW, Khoury MJ. PMID: 22237445; PMCID: PMC3762677.
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PubMed Mentions:
53 Fields:
Translation:
HumansPHPublic Health
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Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California Health Interview Survey. Genet Med. 2010 Nov; 12(11):726-35.
Scheuner MT, McNeel TS, Freedman AN. PMID: 20921897.
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PubMed Mentions:
35 Fields:
Translation:
Humans
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General Cardiovascular Risk Profile identifies advanced coronary artery calcium and is improved by family history: the multiethnic study of atherosclerosis. Circ Cardiovasc Genet. 2010 Feb; 3(1):97-105.
Scheuner MT, Setodji CM, Pankow JS, Blumenthal RS, Keeler E. PMID: 20160201; PMCID: PMC2932659.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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Are electronic health records ready for genomic medicine? Genet Med. 2009 Jul; 11(7):510-7.
Scheuner MT, de Vries H, Kim B, Meili RC, Olmstead SH, Teleki S. PMID: 19478682.
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PubMed Mentions:
29 Fields:
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The beginning of the second decade of the era of patient safety: implications and roles for the clinical laboratory and laboratory professionals. Clin Chim Acta. 2009 Jun; 404(1):24-7.
Hilborne LH, Lubin IM, Scheuner MT. PMID: 19298800.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Developing Family Healthware, a family history screening tool to prevent common chronic diseases. Prev Chronic Dis. 2009 Jan; 6(1):A33.
Yoon PW, Scheuner MT, Jorgensen C, Khoury MJ. PMID: 19080039; PMCID: PMC2644613.
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PubMed Mentions:
75 Fields:
Translation:
HumansPHPublic Health
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Relation of familial patterns of coronary heart disease, stroke, and diabetes to subclinical atherosclerosis: the multi-ethnic study of atherosclerosis. Genet Med. 2008 Dec; 10(12):879-87.
Scheuner MT, Setodji CM, Pankow JS, Blumenthal RS, Keeler E. PMID: 19092440; PMCID: PMC2684807.
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PubMed Mentions:
16 Fields:
Translation:
Humans
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Delivery of genomic medicine for common chronic adult diseases: a systematic review. JAMA. 2008 Mar 19; 299(11):1320-34.
Scheuner MT, Sieverding P, Shekelle PG. PMID: 18349093.
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PubMed Mentions:
139 Fields:
Translation:
Humans
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Family history of premature coronary heart disease and coronary artery calcification: Multi-Ethnic Study of Atherosclerosis (MESA). Circulation. 2007 Aug 07; 116(6):619-26.
Nasir K, Budoff MJ, Wong ND, Scheuner M, Herrington D, Arnett DK, Szklo M, Greenland P, Blumenthal RS. PMID: 17646582.
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PubMed Mentions:
56 Fields:
Translation:
Humans
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Expanding the definition of a positive family history for early-onset coronary heart disease. Genet Med. 2006 Aug; 8(8):491-501.
Scheuner MT, Whitworth WC, McGruder H, Yoon PW, Khoury MJ. PMID: 16912580.
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PubMed Mentions:
22 Fields:
Translation:
Humans
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Familial risk assessment for early-onset coronary heart disease. Genet Med. 2006 Aug; 8(8):525-31.
Scheuner MT, Whitworth WC, McGruder H, Yoon PW, Khoury MJ. PMID: 16912584.
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PubMed Mentions:
28 Fields:
Translation:
Humans
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Haplotypes in the lipoprotein lipase gene influence high-density lipoprotein cholesterol response to statin therapy and progression of atherosclerosis in coronary artery bypass grafts. Pharmacogenomics J. 2007 Feb; 7(1):66-73.
Goodarzi MO, Taylor KD, Scheuner MT, Antoine HJ, Guo X, Shah PK, Rotter JI. PMID: 16755277.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Quantifying the health benefits of genetic tests: a clinical perspective. Genet Med. 2006 Mar; 8(3):141-2.
Scheuner MT, Rotter JI. PMID: 16540747.
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PubMed Mentions:
3 Fields:
Translation:
HumansPHPublic Health
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Family history of type 2 diabetes: a population-based screening tool for prevention? Genet Med. 2006 Feb; 8(2):102-8.
Hariri S, Yoon PW, Qureshi N, Valdez R, Scheuner MT, Khoury MJ. PMID: 16481893.
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PubMed Mentions:
73 Fields:
Translation:
HumansPHPublic Health
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Lipoprotein lipase locus and progression of atherosclerosis in coronary-artery bypass grafts. Genet Med. 2004 Nov-Dec; 6(6):481-6.
Taylor KD, Scheuner MT, Yang H, Wang Y, Haritunians T, Fischel-Ghodsian N, Shah PK, Forrester JS, Knatterud G, Rotter JI. PMID: 15545743.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Clinical application of genetic risk assessment strategies for coronary artery disease: genotypes, phenotypes, and family history. Prim Care. 2004 Sep; 31(3):711-37, xi-xii.
Scheuner MT. PMID: 15331255.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Contribution of Mendelian disorders to common chronic disease: opportunities for recognition, intervention, and prevention. Am J Med Genet C Semin Med Genet. 2004 Feb 15; 125C(1):50-65.
Scheuner MT, Yoon PW, Khoury MJ. PMID: 14755434.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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Genetic evaluation for coronary artery disease. Genet Med. 2003 Jul-Aug; 5(4):269-85.
Scheuner MT. PMID: 12865756.
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PubMed Mentions:
30 Fields:
Translation:
Humans
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Family history: where to go from here. Genet Med. 2003 Mar-Apr; 5(2):66-8.
Scheuner MT. PMID: 12644773.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Research priorities for evaluating family history in the prevention of common chronic diseases. Am J Prev Med. 2003 Feb; 24(2):128-35.
Yoon PW, Scheuner MT, Khoury MJ. PMID: 12568818.
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PubMed Mentions:
63 Fields:
Translation:
HumansPHPublic Health
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Can family history be used as a tool for public health and preventive medicine? Genet Med. 2002 Jul-Aug; 4(4):304-10.
Yoon PW, Scheuner MT, Peterson-Oehlke KL, Gwinn M, Faucett A, Khoury MJ. PMID: 12172397.
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PubMed Mentions:
133 Fields:
Translation:
HumansPHPublic Health
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Genetic predisposition to coronary artery disease. Curr Opin Cardiol. 2001 Jul; 16(4):251-60.
Scheuner MT. PMID: 11574787.
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PubMed Mentions:
13 Fields:
Translation:
Humans
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Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing. J Med Genet. 2001 Jun; 38(6):388-92.
Gad S, Scheuner MT, Pages-Berhouet S, Caux-Moncoutier V, Bensimon A, Aurias A, Pinto M, Stoppa-Lyonnet D. PMID: 11424920; PMCID: PMC1734901.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Eur J Hum Genet. 2001 Jan; 9(1):13-21.
Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. PMID: 11175294.
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PubMed Mentions:
38 Fields:
Translation:
Humans
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A familial risk profile for osteoporosis. Genet Med. 2000 Jul-Aug; 2(4):222-5.
Henderson LB, Adams JS, Goldstein DR, Braunstein GD, Rotter JI, Scheuner MT. PMID: 11252706.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Clinical validation of genetic tests. Genet Med. 2000 May-Jun; 2(3):155-6.
Scheuner MT. PMID: 11256660.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Family history: a comprehensive genetic risk assessment method for the chronic conditions of adulthood. Am J Med Genet. 1997 Aug 22; 71(3):315-24.
Scheuner MT, Wang SJ, Raffel LJ, Larabell SK, Rotter JI. PMID: 9268102.
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PubMed Mentions:
89 Fields:
Translation:
Humans
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P1148A in fibrillin-1 is not a mutation anymore. Nat Genet. 1997 Jan; 15(1):12.
Wang M, Mathews KR, Imaizumi K, Beiraghi S, Blumberg B, Scheuner M, Graham JM, Godfrey M. PMID: 8988160.
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PubMed Mentions:
3 Fields:
Translation:
Humans