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Items: 46

1.

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019.

Gupta S, Provenzale D, Llor X, Halverson AL, Grady W, Chung DC, Haraldsdottir S, Markowitz AJ, Slavin TP Jr, Hampel H; CGC, Ness RM, Weiss JM, Ahnen DJ, Chen LM, Cooper G, Early DS, Giardiello FM, Hall MJ, Hamilton SR, Kanth P, Klapman JB, Lazenby AJ, Lynch PM, Mayer RJ, Mikkelson J; CGC, Peter S, Regenbogen SE, Dwyer MA; CGC, Ogba N.

J Natl Compr Canc Netw. 2019 Sep 1;17(9):1032-1041. doi: 10.6004/jnccn.2019.0044.

PMID:
31487681
2.

Genetics of gastric cancer: what do we know about the genetic risks?

Slavin TP, Weitzel JN, Neuhausen SL, Schrader KA, Oliveira C, Karam R.

Transl Gastroenterol Hepatol. 2019 Jul 29;4:55. doi: 10.21037/tgh.2019.07.02. eCollection 2019. Review.

3.

Association between Clonal Hematopoiesis and Late Non-Relapse Mortality after Autologous Hematopoietic Cell Transplantation.

Slavin TP, Teh JB, Weitzel JN, Peng K, Wong FL, Qin H, Wang J, Wu X, Mei M, Pillai R, Wang Y, Tsang KK, Pozhitkov A, Krishnan A, Forman SJ, Armenian SH.

Biol Blood Marrow Transplant. 2019 Aug 21. pii: S1083-8791(19)30527-0. doi: 10.1016/j.bbmt.2019.08.013. [Epub ahead of print]

4.

Personalized circulating tumor DNA analysis to detect residual disease after neoadjuvant therapy in breast cancer.

McDonald BR, Contente-Cuomo T, Sammut SJ, Odenheimer-Bergman A, Ernst B, Perdigones N, Chin SF, Farooq M, Mejia R, Cronin PA, Anderson KS, Kosiorek HE, Northfelt DW, McCullough AE, Patel BK, Weitzel JN, Slavin TP, Caldas C, Pockaj BA, Murtaza M.

Sci Transl Med. 2019 Aug 7;11(504). pii: eaax7392. doi: 10.1126/scitranslmed.aax7392.

PMID:
31391323
5.

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.

Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L.

Am J Med Genet A. 2019 Aug;179(8):1543-1546. doi: 10.1002/ajmg.a.61266. Epub 2019 Jun 17.

PMID:
31207089
6.

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW.

Neurol Genet. 2019 Apr 18;5(2):e565. doi: 10.1212/NXG.0000000000000316. eCollection 2019 Apr.

7.

Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing.

Slavin TP, Coffee B, Bernhisel R, Logan J, Cox HC, Marcucci G, Weitzel J, Neuhausen SL, Mancini-DiNardo D.

Cancer Genet. 2019 Jun;235-236:31-38. doi: 10.1016/j.cancergen.2019.04.005. Epub 2019 Apr 13.

8.

The Burden of Breast Cancer Predisposition Variants Across The Age Spectrum Among 10 000 Patients.

Chavarri-Guerra Y, Hendricks CB, Brown S, Marcum C, Hander M, Segota ZE, Hake C, Sand S, Slavin TP, Hurria A, Soto-Perez-de-Celis E, Nehoray B, Blankstein KB, Blazer KR, Weitzel JN; Clinical Cancer Genomics Community Research Network.

J Am Geriatr Soc. 2019 May;67(5):884-888. doi: 10.1111/jgs.15937. Epub 2019 Apr 23.

PMID:
31012959
9.

The effects of genomic germline variant reclassification on clinical cancer care.

Slavin TP, Manjarrez S, Pritchard CC, Gray S, Weitzel JN.

Oncotarget. 2019 Jan 11;10(4):417-423. doi: 10.18632/oncotarget.26501. eCollection 2019 Jan 11.

10.

Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.

Slavin TP, Banks KC, Chudova D, Oxnard GR, Odegaard JI, Nagy RJ, Tsang KWK, Neuhausen SL, Gray SW, Cristofanilli M, Rodriguez AA, Bardia A, Leyland-Jones B, Janicek MF, Lilly M, Sonpavde G, Lee CE, Lanman RB, Meric-Bernstam F, Kurzrock R, Weitzel JN.

J Clin Oncol. 2018 Oct 19:JCO1800328. doi: 10.1200/JCO.18.00328. [Epub ahead of print]

PMID:
30339520
11.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R.

Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650.

PMID:
30311375
12.

Experience Gained from the Development and Execution of a Multidisciplinary Multi-syndrome Hereditary Colon Cancer Family Conference.

Solomon I, Rybak C, Van Tongeren L, Kuzmich L, Blazer K, Nehoray B, Niell-Swiller M, Bray S, Bray TH, Hurley K, Weitzel JN, Slavin TP.

J Cancer Educ. 2018 Sep 27. doi: 10.1007/s13187-018-1430-9. [Epub ahead of print]

PMID:
30259397
13.

Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

Walker LC, Marquart L, Pearson JF, Wiggins GAR, O'Mara TA, Parsons MT; BCFR, Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D; EMBRACE, Godwin AK, Meindl A, Schmutzler RK; GEMO Study Collaborators, Isaacs C, Peshkin BN, Caldes T, Hogervorst FBL; HEBON, Lazaro C, Jakubowska A, Montagna M; KConFab Investigators, Chen X, Offit K, Hulick PJ, Andrulis IL, Lindblom A, Nussbaum RL, Nathanson KL, Chenevix-Trench G, Antoniou AC, Couch FJ, Spurdle AB.

Eur J Hum Genet. 2019 Jan;27(1):167-168. doi: 10.1038/s41431-018-0216-1.

14.

NCCN Guidelines Insights: Colorectal Cancer Screening, Version 1.2018.

Provenzale D, Gupta S, Ahnen DJ, Markowitz AJ, Chung DC, Mayer RJ, Regenbogen SE, Blanco AM, Bray T, Cooper G, Early DS, Ford JM, Giardiello FM, Grady W, Hall MJ, Halverson AL, Hamilton SR, Hampel H, Klapman JB, Larson DW, Lazenby AJ, Llor X, Lynch PM, Mikkelson J, Ness RM, Slavin TP, Sugandha S, Weiss JM, Dwyer MA, Ogba N.

J Natl Compr Canc Netw. 2018 Aug;16(8):939-949. doi: 10.6004/jnccn.2018.0067.

PMID:
30099370
15.

Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.

Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN.

J Natl Cancer Inst. 2018 Oct 1;110(10):1059-1066. doi: 10.1093/jnci/djy027.

16.

Rlip depletion prevents spontaneous neoplasia in TP53 null mice.

Awasthi S, Tompkins J, Singhal J, Riggs AD, Yadav S, Wu X, Singh S, Warden C, Liu Z, Wang J, Slavin TP, Weitzel JN, Yuan YC, Awasthi M, Srivastava SK, Awasthi YC, Singhal SS.

Proc Natl Acad Sci U S A. 2018 Apr 10;115(15):3918-3923. doi: 10.1073/pnas.1719586115. Epub 2018 Mar 23.

17.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE, Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators, Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J; HEBON, Henderson A, Hentschel J, Hogervorst FBL, Honisch E, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Vijai J, Kaczmarek K, Karlan BY, Kast K, Investigators K, Kim SW, Konstantopoulou I, Korach J, Laitman Y, Lasa A, Lasset C, Lázaro C, Lee A, Lee MH, Lester J, Lesueur F, Liljegren A, Lindor NM, Longy M, Loud JT, Lu KH, Lubinski J, Machackova E, Manoukian S, Mari V, Martínez-Bouzas C, Matrai Z, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Mickys U, Miller A, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Neuhausen SL, Nevanlinna H, Ngeow J, Nguyen HP, Niederacher D, Nielsen HR, Nielsen FC, Nussbaum RL, Offit K, Öfverholm A, Ong KR, Osorio A, Papi L, Papp J, Pasini B, Pedersen IS, Peixoto A, Peruga N, Peterlongo P, Pohl E, Pradhan N, Prajzendanc K, Prieur F, Pujol P, Radice P, Ramus SJ, Rantala J, Rashid MU, Rhiem K, Robson M, Rodriguez GC, Rogers MT, Rudaitis V, Schmidt AY, Schmutzler RK, Senter L, Shah PD, Sharma P, Side LE, Simard J, Singer CF, Skytte AB, Slavin TP, Snape K, Sobol H, Southey M, Steele L, Steinemann D, Sukiennicki G, Sutter C, Szabo CI, Tan YY, Teixeira MR, Terry MB, Teulé A, Thomas A, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Topka S, Trainer AH, Tung N, van Asperen CJ, van der Hout AH, van der Kolk LE, van der Luijt RB, Van Heetvelde M, Varesco L, Varon-Mateeva R, Vega A, Villarreal-Garza C, von Wachenfeldt A, Walker L, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Yoon SY, Zanzottera C, Zidan J, Zorn KK, Hutten Selkirk CG, Hulick PJ, Chenevix-Trench G, Spurdle AB, Antoniou AC, Nathanson KL.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

18.

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017.

Gupta S, Provenzale D, Regenbogen SE, Hampel H, Slavin TP, Hall MJ, Llor X, Chung DC, Ahnen DJ, Bray T, Cooper G, Early DS, Ford JM, Giardiello FM, Grady W, Halverson AL, Hamilton SR, Klapman JB, Larson DW, Lazenby AJ, Lynch PM, Markowitz AJ, Mayer RJ, Ness RM, Samadder NJ, Shike M, Sugandha S, Weiss JM, Dwyer MA, Ogba N.

J Natl Compr Canc Netw. 2017 Dec;15(12):1465-1475. doi: 10.6004/jnccn.2017.0176.

PMID:
29223984
19.

Erratum: Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.

Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN, Ravichandran V, Thomas T, Maria A, Villano D, Schrader KA, Moore R, Hu C, Wubbenhorst B, Wenz BM, D'Andrea K, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Domchek SM, Szabo C, Offit K, Nathanson KL, Weitzel JN, Couch FJ.

NPJ Breast Cancer. 2017 Nov 7;3:44. doi: 10.1038/s41523-017-0046-2. eCollection 2017.

20.

Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.

Ballinger ML, Best A, Mai PL, Khincha PP, Loud JT, Peters JA, Achatz MI, Chojniak R, Balieiro da Costa A, Santiago KM, Garber J, O'Neill AF, Eeles RA, Evans DG, Bleiker E, Sonke GS, Ruijs M, Loo C, Schiffman J, Naumer A, Kohlmann W, Strong LC, Bojadzieva J, Malkin D, Rednam SP, Stoffel EM, Koeppe E, Weitzel JN, Slavin TP, Nehoray B, Robson M, Walsh M, Manelli L, Villani A, Thomas DM, Savage SA.

JAMA Oncol. 2017 Dec 1;3(12):1634-1639. doi: 10.1001/jamaoncol.2017.1968. Erratum in: JAMA Oncol. 2018 Apr 1;4(4):590.

21.

The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes.

Slavin TP, Neuhausen SL, Nehoray B, Niell-Swiller M, Solomon I, Rybak C, Blazer K, Adamson A, Yang K, Sand S, Guerrero-Llamas N, Castillo D, Herzog J, Wu X, Tao S, Raja S, Chung V, Singh G, Nadesan S, Brown S, Cruz-Correa M, Petersen GM, Weitzel J; Clinical Cancer Genomics Community Research Network (CCGCRN).

Fam Cancer. 2018 Apr;17(2):235-245. doi: 10.1007/s10689-017-0019-5.

22.

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.

Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN, Ravichandran V, Thomas T, Maria A, Villano D, Schrader KA, Moore R, Hu C, Wubbenhorst B, Wenz BM, D'Andrea K, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Domchek SM, Szabo C, Offit K, Nathanson KL, Weitzel JN, Couch FJ.

NPJ Breast Cancer. 2017 Jun 9;3:22. doi: 10.1038/s41523-017-0024-8. eCollection 2017. Erratum in: NPJ Breast Cancer. 2017 Nov 7;3:44.

23.

Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.

Samimi G, Bernardini MQ, Brody LC, Caga-Anan CF, Campbell IG, Chenevix-Trench G, Couch FJ, Dean M, de Hullu JA, Domchek SM, Drapkin R, Spencer Feigelson H, Friedlander M, Gaudet MM, Harmsen MG, Hurley K, James PA, Kwon JS, Lacbawan F, Lheureux S, Mai PL, Mechanic LE, Minasian LM, Myers ER, Robson ME, Ramus SJ, Rezende LF, Shaw PA, Slavin TP, Swisher EM, Takenaka M, Bowtell DD, Sherman ME.

J Clin Oncol. 2017 Jul 10;35(20):2329-2337. doi: 10.1200/JCO.2016.70.3439. Epub 2017 Apr 11.

24.

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, Parsons MT; BCFR, Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D; EMBRACE, Godwin AK, Meindl A, Schmutzler RK; GEMO Study Collaborators, Isaacs C, Peshkin BN, Caldes T, Hogervorst FB; HEBON, Lazaro C, Jakubowska A, Montagna M; KConFab Investigators, Chen X, Offit K, Hulick PJ, Andrulis IL, Lindblom A, Nussbaum RL, Nathanson KL, Chenevix-Trench G, Antoniou AC, Couch FJ, Spurdle AB.

Eur J Hum Genet. 2017 Apr;25(4):432-438. doi: 10.1038/ejhg.2016.203. Epub 2017 Feb 1. Erratum in: Eur J Hum Genet. 2019 Jan;27(1):167-168.

25.

When Clinical Care Depends on the Answer: The Challenges of Assessing Germline Cancer Gene Variants.

Slavin TP, Blazer KR, Weitzel JN.

J Clin Oncol. 2016 Dec;34(34):4061-4063. Epub 2016 Oct 24. No abstract available.

PMID:
27863196
26.

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, Lemaçon A, Adlard J, Aittomäki K, Andrulis IL, Arason A, Arnold N, Arun BK, Azzollini J, Bane A, Barjhoux L, Barrowdale D, Benitez J, Berthet P, Blok MJ, Bobolis K, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caligo MA, Chiquette J, Chung WK, Claes KB, Daly MB, Damiola F, Davidson R, De la Hoya M, De Leeneer K, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, Eccles D, Eeles R, Einbeigi Z, Ejlertsen B; EMBRACE, Engel C, Gareth Evans D, Feliubadalo L, Foretova L, Fostira F, Foulkes WD, Fountzilas G, Friedman E, Frost D, Ganschow P, Ganz PA, Garber J, Gayther SA; GEMO Study Collaborators, Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gronwald J, Hahnen E, Hamann U, Hansen TV, Hart S, Hays JL; HEBON, Hogervorst FB, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Joseph V, Just W, Kaczmarek K, Karlan BY; KConFab Investigators, Kets CM, Kirk J, Kriege M, Laitman Y, Laurent M, Lazaro C, Leslie G, Lester J, Lesueur F, Liljegren A, Loman N, Loud JT, Manoukian S, Mariani M, Mazoyer S, McGuffog L, Meijers-Heijboer HE, Meindl A, Miller A, Montagna M, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Nussbaum RL, Olah E, Olopade OI, Ong KR, Oosterwijk JC, Osorio A, Papi L, Park SK, Pedersen IS, Peissel B, Segura PP, Peterlongo P, Phelan CM, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Richardson A, Robson M, Rodriguez GC, Rookus MA, Schmutzler RK, Sevenet N, Shah PD, Singer CF, Slavin TP, Snape K, Sokolowska J, Sønderstrup IM, Southey M, Spurdle AB, Stadler Z, Stoppa-Lyonnet D, Sukiennicki G, Sutter C, Tan Y, Tea MK, Teixeira MR, Teulé A, Teo SH, Terry MB, Thomassen M, Tihomirova L, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van den Ouweland AM, van der Luijt RB, van Engelen K, van Rensburg EJ, Varon-Mateeva R, Wappenschmidt B, Wijnen JT, Rebbeck T, Chenevix-Trench G, Offit K, Couch FJ, Nord S, Easton DF, Antoniou AC, Simard J.

Breast Cancer Res Treat. 2017 Jan;161(1):117-134. doi: 10.1007/s10549-016-4018-2. Epub 2016 Oct 28.

27.

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.

Vigorito E, Kuchenbaecker KB, Beesley J, Adlard J, Agnarsson BA, Andrulis IL, Arun BK, Barjhoux L, Belotti M, Benitez J, Berger A, Bojesen A, Bonanni B, Brewer C, Caldes T, Caligo MA, Campbell I, Chan SB, Claes KB, Cohn DE, Cook J, Daly MB, Damiola F, Davidson R, Pauw Ad, Delnatte C, Diez O, Domchek SM, Dumont M, Durda K, Dworniczak B, Easton DF, Eccles D, Edwinsdotter Ardnor C, Eeles R, Ejlertsen B, Ellis S, Evans DG, Feliubadalo L, Fostira F, Foulkes WD, Friedman E, Frost D, Gaddam P, Ganz PA, Garber J, Garcia-Barberan V, Gauthier-Villars M, Gehrig A, Gerdes AM, Giraud S, Godwin AK, Goldgar DE, Hake CR, Hansen TV, Healey S, Hodgson S, Hogervorst FB, Houdayer C, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jacobs L, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen UB, John EM, Vijai J, Karlan BY, Kast K, Investigators K, Khan S, Kwong A, Laitman Y, Lester J, Lesueur F, Liljegren A, Lubinski J, Mai PL, Manoukian S, Mazoyer S, Meindl A, Mensenkamp AR, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Olah E, Olopade OI, Ong KR, Osorio A, Park SK, Paulsson-Karlsson Y, Pedersen IS, Peissel B, Peterlongo P, Pfeiler G, Phelan CM, Piedmonte M, Poppe B, Pujana MA, Radice P, Rennert G, Rodriguez GC, Rookus MA, Ross EA, Schmutzler RK, Simard J, Singer CF, Slavin TP, Soucy P, Southey M, Steinemann D, Stoppa-Lyonnet D, Sukiennicki G, Sutter C, Szabo CI, Tea MK, Teixeira MR, Teo SH, Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, van Rensburg EJ, Varesco L, Varon-Mateeva R, Vratimos A, Weitzel JN, McGuffog L, Kirk J, Toland AE, Hamann U, Lindor N, Ramus SJ, Greene MH, Couch FJ, Offit K, Pharoah PD, Chenevix-Trench G, Antoniou AC.

PLoS One. 2016 Jul 27;11(7):e0158801. doi: 10.1371/journal.pone.0158801. eCollection 2016.

28.

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, Wubbenhorst B, Ravichandran V, Moore RM, Hu C, Guidugli L, Wenz B, Domchek SM, Robson ME, Szabo C, Neuhausen SL, Weitzel JN, Offit K, Couch FJ, Nathanson KL.

Am J Hum Genet. 2016 May 5;98(5):801-817. doi: 10.1016/j.ajhg.2016.02.024.

29.

Corrigendum: Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.

Slavin TP, Niell-Swiller M, Solomon I, Nehoray B, Rybak C, Blazer KR, Weitzel JN.

Front Oncol. 2015 Dec 2;5:271. doi: 10.3389/fonc.2015.00271. eCollection 2015.

30.

Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.

Slavin TP, Niell-Swiller M, Solomon I, Nehoray B, Rybak C, Blazer KR, Weitzel JN.

Front Oncol. 2015 Sep 29;5:208. doi: 10.3389/fonc.2015.00208. eCollection 2015. Erratum in: Front Oncol. 2015;5:271.

31.

Is Tel Hashomer camptodactyly a distinct clinical entity?

Mochizuki A, Hyland J, Brown T, Slavin TP.

Am J Med Genet A. 2015 Jan;167A(1):255-8. doi: 10.1002/ajmg.a.36826. Epub 2014 Oct 27. No abstract available.

PMID:
25348902
32.

Elevated blood pressure: Our family's fault? The genetics of essential hypertension.

Natekar A, Olds RL, Lau MW, Min K, Imoto K, Slavin TP.

World J Cardiol. 2014 May 26;6(5):327-37. doi: 10.4330/wjc.v6.i5.327.

33.

The perinatal presentation of cardiofaciocutaneous syndrome.

Wong Ramsey KN, Loichinger MH, Slavin TP, Kuo S, Seaver LH.

Am J Med Genet A. 2014 Aug;164A(8):2036-42. doi: 10.1002/ajmg.a.36558. Epub 2014 Apr 9.

PMID:
24719372
34.

Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation.

Slavin TP, Zaidi SJ, Neal C, Nishikawa B, Seaver LH.

JIMD Rep. 2014;12:109-14. doi: 10.1007/8904_2013_252. Epub 2013 Sep 13.

35.

Bilateral radial ulnar synostosis and vertebral anomalies in a child with a de novo 16p13.3 interstitial deletion.

Tam A, Lee KS, Lee S, Burkhalter W, Pascua LU, Slavin TP.

Case Rep Genet. 2013;2013:149085. doi: 10.1155/2013/149085. Epub 2013 Jul 1.

36.

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts.

Wong D, Johnson SM, Young D, Iwamoto L, Sood S, Slavin TP.

Case Rep Genet. 2013;2013:801094. doi: 10.1155/2013/801094. Epub 2013 Jun 24.

37.

Genetic associations of relaxin: preterm birth and premature rupture of fetal membranes.

Rocha FG, Slavin TP, Li D, Tiirikainen MI, Bryant-Greenwood GD.

Am J Obstet Gynecol. 2013 Sep;209(3):258.e1-8. doi: 10.1016/j.ajog.2013.05.020. Epub 2013 May 10.

38.

Response to "germline mosaicism in Cornelia de Lange syndrome: dilemmas and risk figures" by Mariani et al.

Slavin TP, Krantz I.

Am J Med Genet A. 2013 Jul;161A(7):1827. doi: 10.1002/ajmg.a.35987. Epub 2013 May 21. No abstract available.

39.

Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz-Jeghers phenotype.

Scollon S, McWalter K, Abe K, King J, Kimata K, Slavin TP.

Am J Med Genet A. 2012 Nov;158A(11):2959-62. doi: 10.1002/ajmg.a.35629. Epub 2012 Sep 14.

PMID:
22987620
40.

Germline mosaicism in Cornelia de Lange syndrome.

Slavin TP, Lazebnik N, Clark DM, Vengoechea J, Cohen L, Kaur M, Konczal L, Crowe CA, Corteville JE, Nowaczyk MJ, Byrne JL, Jackson LG, Krantz ID.

Am J Med Genet A. 2012 Jun;158A(6):1481-5. doi: 10.1002/ajmg.a.35381. Epub 2012 May 11.

41.

Monozygotic twins discordant for trisomy 13.

Ramsey KW, Slavin TP, Graham G, Hirata GI, Balaraman V, Seaver LH.

J Perinatol. 2012 Apr;32(4):306-8. doi: 10.1038/jp.2011.123.

PMID:
22460600
42.

Two-marker association tests yield new disease associations for coronary artery disease and hypertension.

Slavin TP, Feng T, Schnell A, Zhu X, Elston RC.

Hum Genet. 2011 Dec;130(6):725-33. doi: 10.1007/s00439-011-1009-6. Epub 2011 May 28.

43.

Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: genotype-phenotype correlations.

Slavin TP, Kuruvilla K, Curtis CA, Christ LA, Mitchell AL.

Am J Med Genet A. 2011 Mar;155A(3):618-21. doi: 10.1002/ajmg.a.33816. Epub 2011 Feb 22.

44.

McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder.

Slavin TP, McCandless SE, Lazebnik N.

J Clin Ultrasound. 2010 Mar-Apr;38(3):151-5. doi: 10.1002/jcu.20663.

PMID:
20091696
45.

Developmental defects and childhood cancer.

Slavin TP, Wiesner GL.

Curr Opin Pediatr. 2009 Dec;21(6):717-23. doi: 10.1097/MOP.0b013e328332c612. Review.

PMID:
19812499
46.

Triploidy and trisomies in the offspring of a mother with a balanced translocation.

Slavin TP, Kousseff BG.

Prenat Diagn. 2005 Jul;25(7):623-4. No abstract available.

PMID:
16034830

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