| Year |
Citation |
Score |
| 2023 |
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, ... ... Tavtigian SV, et al. Gene-specific ACMG/AMP classification criteria for germline APC variants: recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100992. PMID 37800450 DOI: 10.1016/j.gim.2023.100992 |
0.347 |
|
| 2022 |
Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C. Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer. Jama Oncology. PMID 36368039 DOI: 10.1001/jamaoncol.2022.5425 |
0.351 |
|
| 2022 |
Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng BJ, Dubois S, Collin-Deschesnes AC, Soucy P, Vallée M, Fournier F, Lemaçon A, Adank MA, Allen J, Altmüller J, ... ... Tavtigian S, et al. Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers. 14. PMID 35884425 DOI: 10.3390/cancers14143363 |
0.411 |
|
| 2021 |
Brooks JD, Nabi HH, Andrulis IL, Antoniou AC, Chiquette J, Després P, Devilee P, Dorval M, Droit A, Easton DF, Eisen A, Eloy L, Fienberg S, Goldgar D, Hahnen E, ... ... Tavtigian SV, et al. Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I). Journal of Personalized Medicine. 11. PMID 34199804 DOI: 10.3390/jpm11060511 |
0.316 |
|
| 2021 |
Steely CJ, Russell KL, Feusier JE, Qiao Y, Tavtigian SV, Marth G, Jorde LB. Mobile element insertions and associated structural variants in longitudinal breast cancer samples. Scientific Reports. 11: 13020. PMID 34158539 DOI: 10.1038/s41598-021-92444-0 |
0.363 |
|
| 2021 |
Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L, Arun B, Herold N, Versmold B, Schmutzler RK, Nguyen-Dumont T, Southey MC, et al. First international workshop of the ATM and cancer risk group (4-5 December 2019). Familial Cancer. PMID 34125377 DOI: 10.1007/s10689-021-00248-y |
0.365 |
|
| 2020 |
Cannon-Albright LA, Teerlink CC, Stevens J, Snow AK, Thompson BA, Bell R, Nguyen KN, Sargent NR, Kohlmann WK, Neklason DW, Tavtigian SV. FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor. Molecular Genetics & Genomic Medicine. e1532. PMID 33118316 DOI: 10.1002/mgg3.1532 |
0.343 |
|
| 2019 |
Li C, Liu T, Tavtigian SV, Boucher K, Kohlmann W, Cannon-Albright L, Grossman D. Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants. Melanoma Research. PMID 31567591 DOI: 10.1097/Cmr.0000000000000645 |
0.305 |
|
| 2019 |
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, ... ... Tavtigian SV, et al. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Human Mutation. PMID 31131967 DOI: 10.1002/Humu.23818 |
0.364 |
|
| 2019 |
Colonna S, Curtin K, Johnson E, Kohlmann W, Wright J, Kirchhoff A, Tavtigian S, Schiffman J. Family History of Breast Cancer Associated with Breast Cancer in Survivors of Hodgkin Lymphoma. International Journal of Cancer and Clinical Research. 6. PMID 30976660 DOI: 10.23937/2378-3419/1410107 |
0.321 |
|
| 2019 |
Spurdle AB, Greville-Heygate S, Antoniou AC, Brown M, Burke L, de la Hoya M, Domchek S, Dörk T, Firth HV, Monteiro AN, Mensenkamp A, Parsons MT, Radice P, Robson M, Tischkowitz M, ... ... Tavtigian S, et al. Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. Journal of Medical Genetics. PMID 30962250 DOI: 10.1136/Jmedgenet-2018-105872 |
0.438 |
|
| 2019 |
Fortuno C, Cipponi A, Ballinger ML, Tavtigian SV, Olivier M, Ruparel V, Haupt Y, Haupt S, International Sarcoma Kindred Study, Tucker K, Spurdle AB, Thomas DM, James PA. A quantitative model to predict pathogenicity of missense variants in the TP53 gene. Human Mutation. PMID 30840781 DOI: 10.1002/Humu.23739 |
0.308 |
|
| 2019 |
Valle L, Vilar E, Tavtigian SV, Stoffel EM. Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine. The Journal of Pathology. 247: 574-588. PMID 30584801 DOI: 10.1002/path.5229 |
0.348 |
|
| 2018 |
Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, ... ... Tavtigian S, et al. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. Plos Genetics. 14: e1007752. PMID 30586411 DOI: 10.1371/Journal.Pgen.1007752 |
0.385 |
|
| 2018 |
Young EL, Thompson BA, Neklason DW, Firpo MA, Werner T, Bell R, Berger J, Fraser A, Gammon A, Koptiuch C, Kohlmann WK, Neumayer L, Goldgar DE, Mulvihill SJ, Cannon-Albright LA, ... Tavtigian SV, et al. Pancreatic cancer as a sentinel for hereditary cancer predisposition. Bmc Cancer. 18: 697. PMID 29945567 DOI: 10.1186/s12885-018-4573-5 |
0.332 |
|
| 2017 |
Li J, Li H, Makunin I, Thompson BA, Tao K, Young EL, Lopez J, Camp NJ, Tavtigian SV, John EM, Andrulis IL, Khanna KK, Goldgar D, Chenevix-Trench G. Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families. Breast Cancer Research and Treatment. PMID 28840378 DOI: 10.1007/S10549-017-4469-0 |
0.428 |
|
| 2017 |
Young EL, Maese L, Robinson R, Pflieger L, Moore B, Rynearson S, Fowler T, Tavtigian SV, Yandell M, Mason CC, Hawkins DS, Lupo PJ, Schiffman JD. Abstract 2704: Pathogenic mutations and variants of unknown significance (VUS) in cancer predisposition genes are associated with over 10% of pediatric rhabdomyosarcoma: a report from the Children’s Oncology Group Cancer Research. 77: 2704-2704. DOI: 10.1158/1538-7445.Am2017-2704 |
0.37 |
|
| 2016 |
Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, van Rensburg EJ, Heikkinen T, Nevanlinna H, Hopper JL, Dörk T, Claes KB, ... ... Tavtigian SV, et al. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. Journal of Medical Genetics. PMID 27595995 DOI: 10.1136/jmedgenet-2016-103839 |
0.383 |
|
| 2016 |
Renault AL, Lesueur F, Coulombe Y, Gobeil S, Soucy P, Hamdi Y, Desjardins S, Le Calvez-Kelm F, Vallée M, Voegele C, Hopper JL, Andrulis IL, Southey MC, John EM, ... ... Tavtigian SV, et al. ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry. Plos One. 11: e0156820. PMID 27270457 DOI: 10.1371/Journal.Pone.0156820 |
0.442 |
|
| 2016 |
Palmero EI, Alemar B, Schüler-Faccini L, Hainaut P, Moreira-Filho CA, Ewald IP, Santos PK, Ribeiro PL, Oliveira Netto CB, Kelm FL, Tavtigian S, Cossio SL, Giugliani R, Caleffi M, Ashton-Prolla P. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. Genetics and Molecular Biology. PMID 27223485 DOI: 10.1590/1678-4685-Gmb-2014-0363 |
0.52 |
|
| 2016 |
Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, ... ... Tavtigian SV, et al. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. Journal of Medical Genetics. PMID 26921362 DOI: 10.1136/Jmedgenet-2015-103529 |
0.398 |
|
| 2016 |
Vallée MP, Sera TL, Nix DA, Paquette AM, Parsons MT, Bell R, Hoffman A, Hogervorst FB, Goldgar DE, Spurdle AB, Tavtigian SV. Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. Human Mutation. PMID 26913838 DOI: 10.1002/humu.22973 |
0.355 |
|
| 2016 |
Jensen JD, Holton AE, Krakow M, Weaver J, Donovan E, Tavtigian S. Colorectal cancer prevention and intentions to use low-dose aspirin: A survey of 1000 U.S. adults aged 40-65. Cancer Epidemiology. 41: 99-105. PMID 26895085 DOI: 10.1016/J.Canep.2016.02.003 |
0.345 |
|
| 2015 |
Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, et al. Gene-panel sequencing and the prediction of breast-cancer risk. The New England Journal of Medicine. 372: 2243-57. PMID 26014596 DOI: 10.1056/Nejmsr1501341 |
0.476 |
|
| 2015 |
Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, ... ... Tavtigian SV, et al. BRCA1 Circos: a visualisation resource for functional analysis of missense variants. Journal of Medical Genetics. 52: 224-30. PMID 25643705 DOI: 10.1136/Jmedgenet-2014-102766 |
0.446 |
|
| 2015 |
Colonna SV, Curtin K, Kohlmann W, Wright JA, Tavtigian S, Schiffman JD. Family history of breast cancer in Hodgkin disease and future risk for breast cancer. Journal of Clinical Oncology. 33: 1522-1522. DOI: 10.1200/Jco.2015.33.15_Suppl.1522 |
0.387 |
|
| 2014 |
Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, ... ... Tavtigian SV, et al. Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers. Cancer Discovery. 4: 804-15. PMID 25050558 DOI: 10.1158/2159-8290.Cd-14-0212 |
0.498 |
|
| 2014 |
Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, Robinot N, Forey N, Durand G, Vallée MP, Tao K, Roane TC, Williams GJ, Hopper JL, Southey MC, ... ... Tavtigian SV, et al. Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study. Breast Cancer Research : Bcr. 16: R58. PMID 24894818 DOI: 10.1186/bcr3669 |
0.458 |
|
| 2014 |
Tavtigian SV, Chenevix-Trench G. Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. Biomarkers in Medicine. 8: 589-603. PMID 24796624 DOI: 10.2217/bmm.13.143 |
0.468 |
|
| 2013 |
Southey MC, Park DJ, Nguyen-Dumont T, Campbell I, Thompson E, Trainer AH, Chenevix-Trench G, Simard J, Dumont M, Soucy P, Thomassen M, Jønson L, Pedersen IS, Hansen TV, ... ... Tavtigian S, et al. COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration. Breast Cancer Research : Bcr. 15: 402. PMID 23809231 DOI: 10.1186/Bcr3434 |
0.511 |
|
| 2013 |
Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, Parsons MT, Michael D W, Gallinger S, Haile RW, Hopper JL, Jenkins MA, Lemarchand L, Lindor NM, Newcomb PA, ... ... Tavtigian SV, et al. A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. Human Mutation. 34: 200-9. PMID 22949379 DOI: 10.1002/Humu.22213 |
0.334 |
|
| 2012 |
Le Calvez-Kelm F, Oliver J, Damiola F, Forey N, Robinot N, Durand G, Voegele C, Vallée MP, Byrnes G, Registry BC, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV, et al. RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study. Plos One. 7: e52374. PMID 23300655 DOI: 10.1371/journal.pone.0052374 |
0.449 |
|
| 2012 |
Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N. Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future. Human Mutation. 33: 1617-25. PMID 22833534 DOI: 10.1002/Humu.22168 |
0.467 |
|
| 2012 |
Ahmad J, Le Calvez-Kelm F, Daud S, Voegele C, Vallée M, Ahmad A, Kakar N, McKay JD, Gaborieau V, Léoné M, Sinilnikova O, Sangrajrang S, Tavtigian SV, Lesueur F. Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan. Clinical Genetics. 82: 594-8. PMID 22486713 DOI: 10.1111/J.1399-0004.2012.01869.X |
0.459 |
|
| 2012 |
Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallée MP, Tavtigian SV, Concannon P, Foulkes WD, Bernstein L, Bernstein JL, Begg CB. Rare germline mutations in PALB2 and breast cancer risk: a population-based study. Human Mutation. 33: 674-80. PMID 22241545 DOI: 10.1002/Humu.22022 |
0.436 |
|
| 2012 |
Vallée MP, Francy TC, Judkins MK, Babikyan D, Lesueur F, Gammon A, Goldgar DE, Couch FJ, Tavtigian SV. Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. Human Mutation. 33: 22-8. PMID 21990165 DOI: 10.1002/humu.21629 |
0.382 |
|
| 2012 |
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE. ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Human Mutation. 33: 2-7. PMID 21990146 DOI: 10.1002/Humu.21628 |
0.469 |
|
| 2012 |
Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Human Mutation. 33: 8-21. PMID 21990134 DOI: 10.1002/Humu.21627 |
0.505 |
|
| 2012 |
Southey M, Park D, Lesueur F, Odefrey F, Nguyen-Dumont T, Hammet F, Neuhausen S, John E, Andrulis I, Chenevix-Trench G, Baglietto L, Calvez-Kelm FL, Pertesi M, Lonie A, Pope B, ... ... Tavtigian S, et al. Identification of new breast cancer predisposition genes via whole exome sequencing Hereditary Cancer in Clinical Practice. 10: 1-2. DOI: 10.1186/1897-4287-10-S2-A40 |
0.532 |
|
| 2012 |
Feng B, Tavtigian S, Southey M, Goldgar D. Design considerations for massively parallel sequencing studies of common familial cancers Hereditary Cancer in Clinical Practice. 10: 1-1. DOI: 10.1186/1897-4287-10-S2-A38 |
0.423 |
|
| 2012 |
Thompson B, Goldgar D, Paterson C, Clendenning M, Walters R, Arnold S, Parsons M, Walsh M, Hopper J, Jenkins M, Greenblatt M, Buchanan D, Young J, Tavtigian S, Spurdle A. Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants Hereditary Cancer in Clinical Practice. 10: 1-1. DOI: 10.1186/1897-4287-10-S2-A31 |
0.378 |
|
| 2012 |
Jhuraney A, Velkova A, Vallée MP, Carvalho RS, Tavtigian SV, Monteiro AN. Abstract 4444: BRCA1 Circos: A visualization tool for BRCA1 missense variants Cancer Research. 72: 4444-4444. DOI: 10.1158/1538-7445.Am2012-4444 |
0.365 |
|
| 2011 |
Nguyen-Dumont T, Jordheim LP, Michelon J, Forey N, McKay-Chopin S, Sinilnikova O, Le Calvez-Kelm F, Southey MC, Tavtigian SV, Lesueur F. Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2. Bmc Medical Genomics. 4: 39. PMID 21569354 DOI: 10.1186/1755-8794-4-39 |
0.435 |
|
| 2011 |
Iversen ES, Couch FJ, Goldgar DE, Tavtigian SV, Monteiro AN. A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 20: 1078-88. PMID 21447777 DOI: 10.1158/1055-9965.Epi-10-1214 |
0.359 |
|
| 2011 |
Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM, Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Human Mutation. 32: 678-87. PMID 21394826 DOI: 10.1002/humu.21495 |
0.338 |
|
| 2011 |
Kohonen-Corish MR, Macrae F, Genuardi M, Aretz S, Bapat B, Bernstein IT, Burn J, Cotton RG, den Dunnen JT, Frebourg T, Greenblatt MS, Hofstra R, Holinski-Feder E, Lappalainen I, Lindblom A, ... ... Tavtigian S, et al. Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Human Mutation. 32: 491-4. PMID 21387463 DOI: 10.1002/Humu.21450 |
0.417 |
|
| 2011 |
Tavtigian SV, Hashibe M, Thomas A. Tests of association for rare variants: case control mutation screening. Nature Reviews. Genetics. 12: 224. PMID 21283087 DOI: 10.1038/Nrg2867-C1 |
0.365 |
|
| 2011 |
Le Calvez-Kelm F, Lesueur F, Damiola F, Vallée M, Voegele C, Babikyan D, Durand G, Forey N, McKay-Chopin S, Robinot N, Nguyen-Dumont T, Thomas A, Byrnes GB, Hopper JL, Southey MC, ... ... Tavtigian SV, et al. Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast Cancer Research : Bcr. 13: R6. PMID 21244692 DOI: 10.1186/bcr2810 |
0.417 |
|
| 2010 |
Kohonen-Corish MR, Al-Aama JY, Auerbach AD, Axton M, Barash CI, Bernstein I, Béroud C, Burn J, Cunningham F, Cutting GR, den Dunnen JT, Greenblatt MS, Kaput J, Katz M, Lindblom A, ... ... Tavtigian S, et al. How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Human Mutation. 31: 1374-81. PMID 20960468 DOI: 10.1002/Humu.21379 |
0.31 |
|
| 2010 |
Carvalho LVd, Pereira EM, Frappart L, Boniol M, Bernardo WM, Tarricone V, Tavtigian S, Southey MC. Molecular characterization of breast cancer in young Brazilian women Revista Da Associacao Medica Brasileira. 56: 278-287. PMID 20676533 DOI: 10.1590/S0104-42302010000300010 |
0.385 |
|
| 2010 |
Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F, Brugiéres L, Vargas FR, Brentani RR, Ashton-Prolla P, Landi S, Tavtigian SV, Hainaut P, Achatz MI. Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Human Mutation. 31: 143-50. PMID 19877175 DOI: 10.1002/humu.21151 |
0.311 |
|
| 2010 |
Le Calvez F, Lesueur F, Damiola F, Voegele C, Durocher F, Hopper J, Southey M, Andrulis I, John E, Tavtigian S. 71 Rare, evolutionary unlikely missense substitutions in CHEK2 confer increased risk of breast cancer European Journal of Cancer Supplements. 8: 19. DOI: 10.1016/S1359-6349(10)70880-6 |
0.351 |
|
| 2010 |
Maxime V, Lesueur F, Spurdle A, Hogervorst F, Goldgar DE, Tavtigian SV. 71: The Breast Cancer Genes IARC Database: a tool to improve evaluation of BRCA1 and BRCA2 uncertain sequence variants Bulletin Du Cancer. 97: S61. DOI: 10.1016/S0007-4551(15)31164-4 |
0.395 |
|
| 2009 |
Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. American Journal of Human Genetics. 85: 427-46. PMID 19781682 DOI: 10.1016/J.Ajhg.2009.08.018 |
0.438 |
|
| 2009 |
Nguyen-Dumont T, Calvez-Kelm FL, Forey N, McKay-Chopin S, Garritano S, Gioia-Patricola L, De Silva D, Weigel R, Sangrajrang S, Lesueur F, Tavtigian SV. Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis. Human Mutation. 30: 884-90. PMID 19347964 DOI: 10.1002/humu.20949 |
0.318 |
|
| 2009 |
Campa D, McKay J, Sinilnikova O, Hüsing A, Vogel U, Hansen RD, Overvad K, Witt PM, Clavel-Chapelon F, Boutron-Ruault MC, Chajes V, Rohrmann S, Chang-Claude J, Boeing H, Fisher E, ... ... Tavtigian SV, et al. Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk. Breast Cancer Research and Treatment. 118: 565-74. PMID 19252981 DOI: 10.1007/s10549-009-0347-8 |
0.354 |
|
| 2009 |
Garritano S, Gemignani F, Voegele C, Nguyen-Dumont T, Le Calvez-Kelm F, De Silva D, Lesueur F, Landi S, Tavtigian SV. Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus. Bmc Genetics. 10: 5. PMID 19222838 DOI: 10.1186/1471-2156-10-5 |
0.305 |
|
| 2009 |
Distelman-Menachem T, Shapira T, Laitman Y, Kaufman B, Barak F, Tavtigian S, Friedman E. Analysis of BRCA1/BRCA2 genes’ contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women Familial Cancer. 8: 127-133. PMID 18798010 DOI: 10.1007/S10689-008-9216-6 |
0.51 |
|
| 2008 |
Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A. Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Human Mutation. 29: 1342-54. PMID 18951461 DOI: 10.1002/humu.20896 |
0.342 |
|
| 2008 |
Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Human Mutation. 29: 1282-91. PMID 18951446 DOI: 10.1002/humu.20880 |
0.356 |
|
| 2008 |
Tischkowitz MD, Yilmaz A, Chen LQ, Karyadi DM, Novak D, Kirchhoff T, Hamel N, Tavtigian SV, Kolb S, Bismar TA, Aloyz R, Nelson PS, Hood L, Narod SA, White KA, et al. Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. Cancer Letters. 270: 173-80. PMID 18571837 DOI: 10.1016/J.Canlet.2008.05.006 |
0.349 |
|
| 2008 |
Farrugia DJ, Agarwal MK, Pankratz VS, Deffenbaugh AM, Pruss D, Frye C, Wadum L, Johnson K, Mentlick J, Tavtigian SV, Goldgar DE, Couch FJ. Functional assays for classification of BRCA2 variants of uncertain significance Cancer Research. 68: 3523-3531. PMID 18451181 DOI: 10.1158/0008-5472.CAN-07-1587 |
0.405 |
|
| 2008 |
Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. 26: 1657-63. PMID 18375895 DOI: 10.1200/JCO.2007.13.2779 |
0.31 |
|
| 2008 |
Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, van Beers EH, Joosse SA, Wong N, Novak D, Quenneville LA, Grist SA, Nederlof PM, Goldgar DE, Tavtigian SV, et al. Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. European Journal of Human Genetics : Ejhg. 16: 820-32. PMID 18285836 DOI: 10.1038/ejhg.2008.13 |
0.374 |
|
| 2008 |
Hammet F, George J, Tesoriero AA, Jenkins MA, Schroen C, Smith L, Grabosch-Meehan A, Dite G, McCredie MR, Giles GG, Tavtigian SV, Hopper JL, Southey MC. Is BRCA2 c.9079 G>A a predisposing variant for early onset breast cancer? Breast Cancer Research and Treatment. 109: 177-9. PMID 17549625 DOI: 10.1007/s10549-007-9624-6 |
0.348 |
|
| 2008 |
Morris J, Tavtigian S. Use of BRCA1 protein:protein interactions to classify cancer risk Breast Cancer Research. 10: 1-2. DOI: 10.1186/Bcr1879 |
0.511 |
|
| 2008 |
Nguyen T, Lesueur F, Forey N, Silva DD, Weigel R, Tavtigian S, Calvez-Kelm FL. Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis Ejc Supplements. 6: 100. DOI: 10.1016/S1359-6349(08)71558-1 |
0.324 |
|
| 2008 |
Garritano S, Landi S, Gemignani F, Magali O, Martel-Planche G, Brentani R, Ashton-Prolla P, Tavtigian S, Hainaut P, Achatz MW. High frequency of the cancer-predisposing TP53 mutation R337H in the population of south Brazil – evidence for a founder effect European Journal of Cancer Supplements. 6: 41. DOI: 10.1016/S1359-6349(08)71334-X |
0.378 |
|
| 2008 |
Babikyan D, Lesueur F, Voegele C, Hashibe M, Hall J, Byrnes G, Tavtigian S. Systematic and computatioanl analysis of ATM mutation screening data European Journal of Cancer Supplements. 6: 41. DOI: 10.1016/S1359-6349(08)71332-6 |
0.329 |
|
| 2008 |
Babikyan D, Lesueur F, Voegele C, Vallee M, Le Calvez-Kelm F, Hashibe M, Shu-Chun C, Hall J, Byrnes G, Tavtigian S. ATM in breast cancer susceptibility – results of a pooled analysis of case-control mutation screening data European Journal of Cancer Supplements. 6: 11. DOI: 10.1016/S1359-6349(08)71216-3 |
0.379 |
|
| 2007 |
Lovelock PK, Spurdle AB, Mok MT, Farrugia DJ, Lakhani SR, Healey S, Arnold S, Buchanan D, Couch FJ, Henderson BR, Goldgar DE, Tavtigian SV, Chenevix-Trench G, Brown MA. Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Research : Bcr. 9: R82. PMID 18036263 DOI: 10.1186/bcr1826 |
0.383 |
|
| 2007 |
Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. American Journal of Human Genetics. 81: 873-83. PMID 17924331 DOI: 10.1086/521032 |
0.48 |
|
| 2007 |
Cardis E, Hall J, Tavtigian SV. Identification of women with an increased risk of developing radiation-induced breast cancer. Breast Cancer Research : Bcr. 9: 106. PMID 17617928 DOI: 10.1186/bcr1733 |
0.389 |
|
| 2007 |
Sinilnikova OM, McKay JD, Tavtigian SV, Canzian F, DeSilva D, Biessy C, Monnier S, Dossus L, Boillot C, Gioia L, Hughes DJ, Jensen MK, Overvad K, Tjonneland A, Olsen A, et al. Haplotype-based analysis of common variation in the acetyl-coA carboxylase alpha gene and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 16: 409-15. PMID 17372234 DOI: 10.1158/1055-9965.EPI-06-0617 |
0.383 |
|
| 2007 |
Johnson N, Fletcher O, Palles C, Rudd M, Webb E, Sellick G, dos Santos Silva I, McCormack V, Gibson L, Fraser A, Leonard A, Gilham C, Tavtigian SV, Ashworth A, Houlston R, et al. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Human Molecular Genetics. 16: 1051-7. PMID 17341484 DOI: 10.1093/hmg/ddm050 |
0.404 |
|
| 2007 |
Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, Olivier M. Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Human Mutation. 28: 622-9. PMID 17311302 DOI: 10.1002/Humu.20495 |
0.32 |
|
| 2007 |
Simard J, Dumont M, Moisan AM, Gaborieau V, Malouin H, Durocher F, Chiquette J, Plante M, Avard D, Bessette P, Brousseau C, Dorval M, Godard B, Houde L, ... ... Tavtigian SV, et al. Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. Journal of Medical Genetics. 44: 107-21. PMID 16905680 DOI: 10.1136/Jmg.2006.044388 |
0.355 |
|
| 2007 |
Simard J, Dumont M, Moisan AM, Gaborieau V, Vézina H, Durocher F, Chiquette J, Plante M, Avard D, Bessette P, Brousseau C, Dorval M, Godard B, Houde L, Joly Y, ... ... Tavtigian SV, et al. Erratum: Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer (Journal of Medical Genetics (2007) 44, (107-121)) Journal of Medical Genetics. 44. DOI: 10.1136/Jmg.2006.044388Corr1 |
0.367 |
|
| 2006 |
Tavtigian SV, Pierotti MA, Børresen-Dale AL. International Agency for Research on Cancer workshop on 'Expression array analyses in breast cancer taxonomy'. Breast Cancer Research : Bcr. 8: 303. PMID 17096863 DOI: 10.1186/bcr1609 |
0.304 |
|
| 2006 |
Durocher F, Labrie Y, Soucy P, Sinilnikova O, Labuda D, Bessette P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Ouellette G, Pichette R, Plante M, Tavtigian SV, Simard J. Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families. Bmc Cancer. 6: 230. PMID 17010193 DOI: 10.1186/1471-2407-6-230 |
0.519 |
|
| 2006 |
Waddell N, Jonnalagadda J, Marsh A, Grist S, Jenkins M, Hobson K, Taylor M, Lindeman GJ, Tavtigian SV, Suthers G, Goldgar D, Oefner PJ, Taylor D, Grimmond S, et al. Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes, Chromosomes & Cancer. 45: 1169-81. PMID 17001622 DOI: 10.1002/gcc.20381 |
0.418 |
|
| 2006 |
Sodha N, Mantoni TS, Tavtigian SV, Eeles R, Garrett MD. Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. Cancer Research. 66: 8966-70. PMID 16982735 DOI: 10.1158/0008-5472.CAN-06-1990 |
0.372 |
|
| 2006 |
Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, ... ... Tavtigian SV, et al. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Research. 66: 2019-27. PMID 16489001 DOI: 10.1158/0008-5472.CAN-05-3546 |
0.421 |
|
| 2006 |
Ware MD, DeSilva D, Sinilnikova OM, Stoppa-Lyonnet D, Tavtigian SV, Mazoyer S. Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? Oncogene. 25: 323-8. PMID 16170354 DOI: 10.1038/sj.onc.1209033 |
0.417 |
|
| 2006 |
Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, De Silva D, Zharkikh A, Thomas A. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral Journal of Medical Genetics. 43: 295-305. PMID 16014699 DOI: 10.1136/jmg.2005.033878 |
0.384 |
|
| 2005 |
Hung RJ, van der Hel O, Tavtigian SV, Brennan P, Boffetta P, Hashibe M. Perspectives on the molecular epidemiology of aerodigestive tract cancers. Mutation Research. 592: 102-18. PMID 16023150 DOI: 10.1016/J.Mrfmmm.2005.06.007 |
0.345 |
|
| 2005 |
Wu K, Hinson SR, Ohashi A, Farrugia D, Wendt P, Tavtigian SV, Deffenbaugh A, Goldgar D, Couch FJ. Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Research. 65: 417-26. PMID 15695382 |
0.413 |
|
| 2005 |
Camp NJ, Swensen J, Horne BD, Farnham JM, Thomas A, Cannon-Albright LA, Tavtigian SV. Characterization of linkage disequilibrium structure, mutation history, and tagging SNPs, and their use in association analyses: ELAC2 and familial early-onset prostate cancer. Genetic Epidemiology. 28: 232-43. PMID 15593091 DOI: 10.1002/Gepi.20054 |
0.309 |
|
| 2004 |
Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. American Journal of Human Genetics. 75: 535-44. PMID 15290653 DOI: 10.1086/424388 |
0.332 |
|
| 2004 |
Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV. Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation Journal of Medical Genetics. 41: 492-507. PMID 15235020 DOI: 10.1136/jmg.2003.015867 |
0.342 |
|
| 2003 |
Simard J, Dumont M, Labuda D, Sinnett D, Meloche C, El-Alfy M, Berger L, Lees E, Labrie F, Tavtigian SV. Prostate cancer susceptibility genes: lessons learned and challenges posed. Endocrine-Related Cancer. 10: 225-59. PMID 12790786 DOI: 10.1677/Erc.0.0100225 |
0.344 |
|
| 2003 |
Korver W, Guevara C, Chen Y, Neuteboom S, Bookstein R, Tavtigian S, Lees E. The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex. International Journal of Cancer. 104: 283-8. PMID 12569551 DOI: 10.1002/Ijc.10945 |
0.415 |
|
| 2001 |
Tavtigian SV, Simard J, Teng DH, Abtin V, Baumgard M, Beck A, Camp NJ, Carillo AR, Chen Y, Dayananth P, Desrochers M, Dumont M, Farnham JM, Frank D, Frye C, et al. A candidate prostate cancer susceptibility gene at chromosome 17p. Nature Genetics. 27: 172-80. PMID 11175785 DOI: 10.1038/84808 |
0.344 |
|
| 1999 |
Wong AK, Chen Y, Lian L, Ha PC, Petersen K, Laity K, Carillo A, Emerson M, Heichman K, Gupte J, Tavtigian SV, Teng DH. Genomic structure, chromosomal location, and mutation analysis of the human CDC14A gene. Genomics. 59: 248-51. PMID 10409437 DOI: 10.1006/GENO.1999.5863 |
0.309 |
|
| 1997 |
Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, Tavtigian SV, Teng DH-, Adey N, Staebell M, Gumpper K, Lundstrom R, Hulick M, Kelly M, et al. BRCA1 Sequence Analysis in Women at High Risk for Susceptibility Mutations: Risk Factor Analysis and Implications for Genetic Testing Jama. 278: 1242-1250. DOI: 10.1001/Jama.1997.03550150046034 |
0.448 |
|
| 1996 |
Couch FJ, Farid LM, DeShano ML, Tavtigian SV, Calzone K, Campeau L, Peng Y, Bogden B, Chen Q, Neuhausen S, Shattuck-Eidens D, Godwin AK, Daly M, Radford DM, Sedlacek S, et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nature Genetics. 13: 123-5. PMID 8673091 DOI: 10.1038/Ng0596-123 |
0.428 |
|
| 1996 |
Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM, Eyfjörd JE. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nature Genetics. 13: 117-9. PMID 8673089 DOI: 10.1038/NG0596-117 |
0.393 |
|
| 1996 |
Teng DHF, Bogden R, Mitchell J, Baumgard M, Bell R, Berry S, Davis T, Ha PC, Kehrer R, Jammulapati S, Chen Q, Offit K, Skolnick MH, Tavtigian SV, Jhanwar S, et al. Low incidence of BRCA2 mutations in breast carcinoma and other cancers Nature Genetics. 13: 241-244. PMID 8640236 DOI: 10.1038/ng0696-241 |
0.447 |
|
| 1996 |
Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds Nature Genetics. 12: 333-337. PMID 8589730 DOI: 10.1038/Ng0396-333 |
0.41 |
|
| 1994 |
Tavtigian SV, Zabludoff SD, Wold BJ. Cloning of mid-G1 serum response genes and identification of a subset regulated by conditional myc expression. Molecular Biology of the Cell. 5: 375-88. PMID 8049528 |
0.472 |
|
| 1994 |
Futreal PA, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavtigian S, Bennett LM, Haugen-Strano A, Swensen J, Miki Y, Eddington K, McClure M, Frye C, Weaver-Feldhaus J, Ding W, et al. BRCA1 mutations in primary breast and ovarian carcinomas Science. 266: 120-122. PMID 7939630 DOI: 10.1126/Science.7939630 |
0.479 |
|
| 1994 |
Kamb A, Futreal PA, Rosenthal J, Cochran C, Harshman KD, Liu Q, Phelps RS, Tavtigian SV, Tran T, Hussey C, Bell R, Miki Y, Swensen J, Hobbs MR, Marks J, et al. Localization of the VHR Phosphatase Gene and Its Analysis as a Candidate for BRCA1 Genomics. 23: 163-167. PMID 7829067 DOI: 10.1006/Geno.1994.1473 |
0.399 |
|
| 1994 |
Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 Science. 266: 66-71. PMID 7545954 DOI: 10.1126/Science.7545954 |
0.503 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2023 |
Seagle HM, Keller SR, Tavtigian SV, Horton C, Holowatyj AN. Clinical Multigene Panel Testing Identifies Racial and Ethnic Differences in Germline Pathogenic Variants Among Patients With Early-Onset Colorectal Cancer. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. JCO2202378. PMID 37319387 DOI: 10.1200/JCO.22.02378 |
0.3 |
|
| 2013 |
Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, ... ... Tavtigian SV, et al. Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Human Mutation. 34: 255-65. PMID 22949387 DOI: 10.1002/Humu.22214 |
0.298 |
|
| 2010 |
Dumontet C, Landi S, Reiman T, Perry T, Plesa A, Bellini I, Barale R, Pilarski LM, Troncy J, Tavtigian S, Gemignani F. Genetic polymorphisms associated with outcome in multiple myeloma patients receiving high-dose melphalan. Bone Marrow Transplantation. 45: 1316-24. PMID 19966851 DOI: 10.1038/Bmt.2009.335 |
0.296 |
|
| 2006 |
Avard D, Bridge P, Bucci LM, Chiquette J, Dorval M, Durocher F, Easton D, Godard B, Goldgar D, Knoppers BM, Laframboise R, Lespérance B, Plante M, Tavtigian SV, Vézina H, et al. Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challenges. Familial Cancer. 5: 3-13. PMID 16528603 DOI: 10.1007/S10689-005-2570-8 |
0.292 |
|
| 2021 |
Kim J, Light N, Subasri V, Young EL, Wegman-Ostrosky T, Barkauskas DA, Hall D, Lupo PJ, Patidar R, Maese LD, Jones K, Wang M, Tavtigian SV, Wu D, Shlien A, et al. Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma. Jco Precision Oncology. 5. PMID 34095712 DOI: 10.1200/PO.20.00218 |
0.287 |
|
| 2006 |
Tavtigian SV, Samollow PB, de Silva D, Thomas A. An analysis of unclassified missense substitutions in human BRCA1. Familial Cancer. 5: 77-88. PMID 16528611 DOI: 10.1007/s10689-005-2578-0 |
0.284 |
|
| 2007 |
Karchin R, Monteiro AN, Tavtigian SV, Carvalho MA, Sali A. Functional impact of missense variants in BRCA1 predicted by supervised learning. Plos Computational Biology. 3: e26. PMID 17305420 DOI: 10.1371/Journal.Pcbi.0030026 |
0.284 |
|
| 2024 |
Fortuno C, Michailidou K, Parsons M, Dolinsky JS, Pesaran T, Yussuf A, Mester JL, Hruska KS, Hiraki S, O'Connor R, Chan RC, Kim S, Tavtigian SV, Goldgar D, James PA, et al. Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Human Molecular Genetics. PMID 38271184 DOI: 10.1093/hmg/ddae009 |
0.282 |
|
| 2014 |
Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Shankaracharya, Wu W, Scheet P, Wang S, Xing J, Glusman G, Hubley R, et al. A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. Nature Biotechnology. 32: 663-9. PMID 24837662 DOI: 10.1038/Nbt.2895 |
0.282 |
|
| 2021 |
Fortuno C, Pesaran T, Dolinsky J, Yussuf A, McGoldrick K, Tavtigian SV, Goldgar D, Spurdle AB, James PA. An updated quantitative model to classify missense variants in the TP53 gene: a novel multifactorial strategy. Human Mutation. PMID 34273903 DOI: 10.1002/humu.24264 |
0.275 |
|
| 2002 |
Fujiwara H, Emi M, Nagai H, Nishimura T, Konishi N, Kubota Y, Ichikawa T, Takahashi S, Shuin T, Habuchi T, Ogawa O, Inoue K, Skolnick MH, Swensen J, Camp NJ, ... Tavtigian SV, et al. Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series. Journal of Human Genetics. 47: 641-8. PMID 12522685 DOI: 10.1007/S100380200099 |
0.275 |
|
| 2006 |
Dumontet C, Landi S, Reiman T, Plesa A, Bellini I, Barale R, Pilarski L, Tavtigian S, Gemignani F. Genetic Polymorphisms Correlated with Outcome in Multiple Myeloma Patients Receiving High Dose Melphalan. Blood. 108: 3085-3085. DOI: 10.1182/Blood.V108.11.3085.3085 |
0.273 |
|
| 1997 |
Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH, Tavtigian SV. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nature Genetics. 15: 356-62. PMID 9090379 DOI: 10.1038/Ng0497-356 |
0.272 |
|
| 2005 |
Chen Y, Beck A, Davenport C, Chen Y, Shattuck D, Tavtigian SV. Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z. Bmc Molecular Biology. 6: 12. PMID 15892892 DOI: 10.1186/1471-2199-6-12 |
0.271 |
|
| 2019 |
Voskanian A, Katsonis P, Lichtarge O, Pejaver V, Radivojac P, Mooney SD, Capriotti E, Bromberg Y, Wang Y, Miller M, Martelli PL, Savojardo C, Babbi G, Casadio R, Cao Y, ... ... Tavtigian SV, et al. Assessing the performance of in-silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer. Human Mutation. PMID 31241222 DOI: 10.1002/Humu.23849 |
0.268 |
|
| 2011 |
Feng BJ, Tavtigian SV, Southey MC, Goldgar DE. Design considerations for massively parallel sequencing studies of complex human disease. Plos One. 6: e23221. PMID 21850262 DOI: 10.1371/journal.pone.0023221 |
0.267 |
|
| 2009 |
Arnold S, Buchanan DD, Barker M, Jaskowski L, Walsh MD, Birney G, Woods MO, Hopper JL, Jenkins MA, Brown MA, Tavtigian SV, Goldgar DE, Young JP, Spurdle AB. Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Human Mutation. 30: 757-70. PMID 19267393 DOI: 10.1002/humu.20936 |
0.264 |
|
| 2012 |
Tavtigian S. Integrated evaluation of CHD7 missense substitutions for CHARGE syndrome clinical genetics Human Mutation. 33. DOI: 10.1002/Humu.22578 |
0.264 |
|
| 2018 |
Drost M, Tiersma Y, Thompson BA, Frederiksen JH, Keijzers G, Glubb D, Kathe S, Osinga J, Westers H, Pappas L, Boucher KM, Molenkamp S, Zonneveld JB, van Asperen CJ, Goldgar DE, ... ... Tavtigian SV, et al. A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30504929 DOI: 10.1038/s41436-018-0372-2 |
0.264 |
|
| 2020 |
Thompson BA, Walters R, Parsons MT, Dumenil T, Drost M, Tiersma Y, Lindor NM, Tavtigian SV, de Wind N, Spurdle AB. Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation. Frontiers in Genetics. 11: 798. PMID 32849802 DOI: 10.3389/fgene.2020.00798 |
0.263 |
|
| 2002 |
Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. 20: 1480-90. PMID 11896095 DOI: 10.1200/JCO.20.6.1480 |
0.263 |
|
| 2001 |
Teng DH, Chen Y, Lian L, Ha PC, Tavtigian SV, Wong AK. Mutation analyses of 268 candidate genes in human tumor cell lines. Genomics. 74: 352-64. PMID 11414763 DOI: 10.1006/GENO.2001.6551 |
0.262 |
|
| 2005 |
Farnham JM, Camp NJ, Swensen J, Tavtigian SV, Albright LA. Confirmation of the HPCX prostate cancer predisposition locus in large Utah prostate cancer pedigrees. Human Genetics. 116: 179-85. PMID 15592687 DOI: 10.1007/S00439-004-1220-9 |
0.262 |
|
| 2011 |
Hernandez-Vargas H, Ouzounova M, Le Calvez-Kelm F, Lambert MP, McKay-Chopin S, Tavtigian SV, Puisieux A, Matar C, Herceg Z. Methylome analysis reveals Jak-STAT pathway deregulation in putative breast cancer stem cells. Epigenetics : Official Journal of the Dna Methylation Society. 6: 428-39. PMID 21266853 DOI: 10.4161/Epi.6.4.14515 |
0.261 |
|
| 2020 |
Thompson BA, Snow AK, Koptiuch C, Kohlmann WK, Mooney R, Johnson S, Huff CD, Yu Y, Teerlink CC, Feng BJ, Neklason DW, Cannon-Albright LA, Tavtigian SV. A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis. Clinical Genetics. 97: 943-944. PMID 32424863 DOI: 10.1111/cge.13757 |
0.258 |
|
| 2008 |
Tavtigian SV, Greenblatt MS, Lesueur F, Byrnes GB. In silico analysis of missense substitutions using sequence-alignment based methods. Human Mutation. 29: 1327-36. PMID 18951440 DOI: 10.1002/humu.20892 |
0.257 |
|
| 2011 |
Macrae F, Möslein G, Cotton R, Sijmons R, Dunnen JTd, Woods M, Tavtigian S, Jenkins M, Hofstra R, Haile RW. InSiGHT leads in the implementation of the Human Variome Project Hereditary Cancer in Clinical Practice. 9: 23. DOI: 10.1186/1897-4287-9-S1-P23 |
0.257 |
|
| 2023 |
Biesecker LG, Byrne AB, Harrison SM, Pesaran T, Schäffer AA, Shirts BH, Tavtigian SV, Rehm HL. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification. American Journal of Human Genetics. PMID 38103548 DOI: 10.1016/j.ajhg.2023.11.009 |
0.254 |
|
| 1994 |
Neuhausen SL, Swensen J, Miki Y, Liu Q, Tavtigian S, Shattuck-Eidens D, Kamb A, Hobbs MR, Gingrich J, Shizuya H. A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1. Human Molecular Genetics. 3: 1919-26. PMID 7874107 DOI: 10.1093/Hmg/3.11.1919 |
0.254 |
|
| 2022 |
Clark KA, Paquette A, Tao K, Bell R, Boyle JL, Rosenthal J, Snow AK, Stark AW, Thompson BA, Unger J, Gertz J, Varley KE, Boucher KM, Goldgar DE, Foulkes WD, ... ... Tavtigian SV, et al. Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions. American Journal of Human Genetics. 109: 1153-1174. PMID 35659930 DOI: 10.1016/j.ajhg.2022.05.004 |
0.252 |
|
| 2022 |
Rath A, Radecki AA, Rahman K, Gilmore RB, Hudson JR, Cenci M, Tavtigian SV, Grady JP, Heinen CD. A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants. Human Mutation. PMID 36054288 DOI: 10.1002/humu.24462 |
0.252 |
|
| 2013 |
Lindor NM, Goldgar DE, Tavtigian SV, Plon SE, Couch FJ. BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management. The Oncologist. 18: 518-24. PMID 23615697 DOI: 10.1634/theoncologist.2012-0452 |
0.251 |
|
| 2014 |
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, ... ... Tavtigian SV, et al. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics. 46: 107-15. PMID 24362816 DOI: 10.1038/Ng.2854 |
0.248 |
|
| 2020 |
Drost M, Tiersma Y, Glubb D, Kathe S, van Hees S, Calléja F, Zonneveld JBM, Boucher KM, Ramlal RPE, Thompson BA, Rasmussen LJ, Greenblatt MS, Lee A, Spurdle AB, Tavtigian SV, et al. Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31965077 DOI: 10.1038/S41436-019-0736-2 |
0.245 |
|
| 2016 |
de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, ... ... Tavtigian S, et al. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Human Molecular Genetics. PMID 27008870 DOI: 10.1093/Hmg/Ddw094 |
0.241 |
|
| 2007 |
Voegele C, Tavtigian SV, de Silva D, Cuber S, Thomas A, Le Calvez-Kelm F. A Laboratory Information Management System (LIMS) for a high throughput genetic platform aimed at candidate gene mutation screening. Bioinformatics (Oxford, England). 23: 2504-6. PMID 17709339 DOI: 10.1093/bioinformatics/btm365 |
0.235 |
|
| 2010 |
Velkova A, Carvalho MA, Johnson JO, Tavtigian SV, Monteiro AN. Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair. Cell Cycle (Georgetown, Tex.). 9: 1421-33. PMID 20305393 DOI: 10.4161/Cc.9.7.11256 |
0.233 |
|
| 1999 |
Neuhausen SL, Farnham JM, Kort E, Tavtigian SV, Skolnick MH, Cannon-Albright LA. Prostate cancer susceptibility locus HPC1 in Utah high-risk pedigrees. Human Molecular Genetics. 8: 2437-42. PMID 10556291 DOI: 10.1093/HMG/8.13.2437 |
0.23 |
|
| 1998 |
Wong AK, Ormonde PA, Pero R, Chen Y, Lian L, Salada G, Berry S, Lawrence Q, Dayananth P, Ha P, Tavtigian SV, Teng DH, Bartel PL. Characterization of a carboxy-terminal BRCA1 interacting protein. Oncogene. 17: 2279-85. PMID 9811458 DOI: 10.1038/sj.onc.1202150 |
0.226 |
|
| 2019 |
Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS, et al. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. Genome Medicine. 12: 3. PMID 31892348 DOI: 10.1186/S13073-019-0690-2 |
0.225 |
|
| 2010 |
Walker LC, Whiley PJ, Couch FJ, Farrugia DJ, Healey S, Eccles DM, Lin F, Butler SA, Goff SA, Thompson BA, Lakhani SR, Da Silva LM, Tavtigian SV, Goldgar DE, et al. Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. Human Mutation. 31: E1484-505. PMID 20513136 DOI: 10.1002/humu.21267 |
0.225 |
|
| 2013 |
Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N. Response to: Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance. Human Mutation. 34: 923-4. PMID 23554108 DOI: 10.1002/Humu.22310 |
0.224 |
|
| 2013 |
Pope BJ, Nguyen-Dumont T, Odefrey F, Hammet F, Bell R, Tao K, Tavtigian SV, Goldgar DE, Lonie A, Southey MC, Park DJ. FAVR (Filtering and Annotation of Variants that are Rare): Methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets Bmc Bioinformatics. 14. PMID 23441864 DOI: 10.1186/1471-2105-14-65 |
0.223 |
|
| 1998 |
Fults D, Pedone CA, Thompson GE, Uchiyama CM, Gumpper KL, Iliev D, Vinson VL, Tavtigian SV, Perry WL. Microsatellite deletion mapping on chromosome 10q and mutation analysis of MMAC1, FAS, and MXI1 in human glioblastoma multiforme. International Journal of Oncology. 12: 905-10. PMID 9499454 DOI: 10.3892/IJO.12.4.905 |
0.22 |
|
| 2006 |
Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV. Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Research. 34: 1317-25. PMID 16522644 DOI: 10.1093/Nar/Gkj518 |
0.216 |
|
| 1998 |
Wong AK, Pero R, Ormonde PA, Tavtigian SV, Bartel PL. RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2. The Journal of Biological Chemistry. 272: 31941-4. PMID 9405383 DOI: 10.1074/jbc.272.51.31941 |
0.213 |
|
| 2008 |
Jordheim LP, Nguyen-Dumont T, Thomas X, Dumontet C, Tavtigian SV. Differential allelic expression in leukoblast from patients with acute myeloid leukemia suggests genetic regulation of CDA, DCK, NT5C2, NT5C3, and TP53 Drug Metabolism and Disposition. 36: 2419-2423. PMID 18775979 DOI: 10.1124/dmd.108.023184 |
0.213 |
|
| 1994 |
Kamb A, Gruis NA, Weaver-Feldhaus J, Liu Q, Harshman K, Tavtigian SV, Stockert E, Day RS, Johnson BE, Skolnick MH. A cell cycle regulator potentially involved in genesis of many tumor types. Science (New York, N.Y.). 264: 436-40. PMID 8153634 DOI: 10.1126/SCIENCE.8153634 |
0.209 |
|
| 2009 |
Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, ... ... Tavtigian SV, et al. Planning the human variome project: the Spain report. Human Mutation. 30: 496-510. PMID 19306394 DOI: 10.1002/Humu.20972 |
0.207 |
|
| 2004 |
Dumont M, Frank D, Moisan AM, Tranchant M, Soucy P, Breton R, Labrie F, Tavtigian SV, Simard J. Structure of primate and rodent orthologs of the prostate cancer susceptibility gene ELAC2. Biochimica Et Biophysica Acta. 1679: 230-47. PMID 15358515 DOI: 10.1016/J.Bbaexp.2004.07.001 |
0.206 |
|
| 1999 |
Morimoto AM, Berson AE, Fujii GH, Teng DH, Tavtigian SV, Bookstein R, Steck PA, Bolen JB. Phenotypic analysis of human glioma cells expressing the MMAC1 tumor suppressor phosphatase. Oncogene. 18: 1261-6. PMID 10022807 DOI: 10.1038/sj.onc.1202441 |
0.201 |
|
| 2007 |
Jordheim LP, Nguyen T, Thomas X, Dumontet C, Tavtigian SV. Identification of Genetic Markers for the Outcome of Patients with Acute Myeloid Leukemia Treated with Cytarabine. Blood. 110: 4294-4294. DOI: 10.1182/BLOOD.V110.11.4294.4294 |
0.199 |
|
| 2002 |
Camp NJ, Tavtigian SV. Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer. American Journal of Human Genetics. 71: 1475-8. PMID 12515253 DOI: 10.1086/344516 |
0.198 |
|
| 2000 |
Verhagen PCMS, Zhu XL, Rohr LR, Cannon-Albright LA, Tavtigian SV, Skolnick MH, Brothman AR. Microdissection, DOP-PCR, and comparative genomic hybridization of paraffin-embedded familial prostate cancers Cancer Genetics and Cytogenetics. 122: 43-48. PMID 11104032 DOI: 10.1016/S0165-4608(00)00276-4 |
0.197 |
|
| 2018 |
Fortuno C, James PA, Young EL, Feng B, Olivier M, Pesaran T, Tavtigian SV, Spurdle AB. Improved, ACMG-Compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants. Human Mutation. PMID 29775997 DOI: 10.1002/humu.23553 |
0.192 |
|
| 2018 |
Samadder NJ, Kuwada SK, Boucher KM, Byrne K, Kanth P, Samowitz W, Jones D, Tavtigian SV, Westover M, Berry T, Jasperson K, Pappas L, Smith L, Sample D, Burt RW, et al. Association of Sulindac and Erlotinib vs Placebo With Colorectal Neoplasia in Familial Adenomatous Polyposis: Secondary Analysis of a Randomized Clinical Trial. Jama Oncology. PMID 29423501 DOI: 10.1001/jamaoncol.2017.5431 |
0.19 |
|
| 2005 |
Pettigrew C, Wayte N, Lovelock PK, Tavtigian SV, Chenevix-Trench G, Spurdle AB, Brown MA. Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms. Breast Cancer Research : Bcr. 7: R929-39. PMID 16280041 DOI: 10.1186/bcr1324 |
0.181 |
|
| 1985 |
Fujimura RK, Tavtigian SV, Choy TL, Roop BC. Physical locus of the DNA polymerase gene and genetic maps of bacteriophage T5 mutants. Journal of Virology. 53: 495-500. PMID 2982033 DOI: 10.1128/jvi.53.2.495-500.1985 |
0.178 |
|
| 2020 |
Tavtigian SV, Harrison SM, Boucher KM, Biesecker LG. Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines. Human Mutation. PMID 32720330 DOI: 10.1002/humu.24088 |
0.171 |
|
| 2018 |
Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29300386 DOI: 10.1038/gim.2017.210 |
0.167 |
|
| 2002 |
Aparicio S, Chapman J, Stupka E, Putnam N, Chia JM, Dehal P, Christoffels A, Rash S, Hoon S, Smit A, Gelpke MD, Roach J, Oh T, Ho IY, Wong M, ... ... Tavtigian SV, et al. Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science (New York, N.Y.). 297: 1301-10. PMID 12142439 DOI: 10.1126/Science.1072104 |
0.165 |
|
| 1996 |
Hattier T, Bell R, Shaffer D, Stone S, Phelps RS, Tavtigian SV, Skolnick MH, Shattuck-Eidens D, Kamb A. Monitoring the efficacy of hybrid selection during positional cloning: the search for BRCA1. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 6: 873-9. PMID 8747927 DOI: 10.1007/BF00292438 |
0.164 |
|
| 2022 |
Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell-Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria. American Journal of Human Genetics. 109: 2163-2177. PMID 36413997 DOI: 10.1016/j.ajhg.2022.10.013 |
0.16 |
|
| 2008 |
Tavtigian SV, Greenblatt MS, Goldgar DE, Boffetta P. Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group. Human Mutation. 29: 1261-4. PMID 18951436 DOI: 10.1002/humu.20903 |
0.159 |
|
| 2016 |
Jensen JD, Holton AE, Krakow M, Weaver J, Donovan E, Tavtigian S. Colorectal cancer prevention and intentions to use low-dose aspirin: A survey of 1000 U.S. adults aged 40-65 Cancer Epidemiology. 41: 99-105. DOI: 10.1016/j.canep.2016.02.003 |
0.158 |
|
| 2015 |
Tavtigian SV. Shotgun Approach to Functional Annotation of Genes Human Mutation. 36: v-v. DOI: 10.1002/humu.22746 |
0.157 |
|
| 2002 |
Goff SA, Ricke D, Lan TH, Presting G, Wang R, Dunn M, Glazebrook J, Sessions A, Oeller P, Varma H, Hadley D, Hutchison D, Martin C, Katagiri F, Lange BM, ... ... Tavtigian S, et al. A draft sequence of the rice genome (Oryza sativa L. ssp. japonica). Science (New York, N.Y.). 296: 92-100. PMID 11935018 DOI: 10.1126/science.1068275 |
0.14 |
|
| 2008 |
Cotton RG, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, ... ... Tavtigian SV, et al. GENETICS. The Human Variome Project. Science (New York, N.Y.). 322: 861-2. PMID 18988827 DOI: 10.1126/Science.1167363 |
0.139 |
|
| 2016 |
Samadder NJ, Neklason DW, Boucher KM, Byrne KR, Kanth P, Samowitz W, Jones D, Tavtigian SV, Done MW, Berry T, Jasperson K, Pappas L, Smith L, Sample D, Davis R, et al. Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial. Jama. 315: 1266-75. PMID 27002448 DOI: 10.1001/Jama.2016.2522 |
0.124 |
|
| 2023 |
Spurdle AB, Drackley A, Ing A, Tudini E, Yap KL, Tavtigian SV. Correspondence on "Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)" by Riggs et al. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100868. PMID 37261439 DOI: 10.1016/j.gim.2023.100868 |
0.122 |
|
| 2005 |
Al-Alem U, Li C, Forey N, Relouzat F, Fondanèche MC, Tavtigian SV, Wang ZQ, Latour S, Yin L. Impaired Ig class switch in mice deficient for the X-linked lymphoproliferative disease gene Sap. Blood. 106: 2069-75. PMID 15941917 DOI: 10.1182/blood-2004-07-2731 |
0.12 |
|
| 2024 |
Stenton SL, Pejaver V, Bergquist T, Biesecker LG, Byrne AB, Nadeau E, Greenblatt MS, Harrison S, Tavtigian S, Radivojac P, Brenner SE, O'Donnell-Luria A. Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. Medrxiv : the Preprint Server For Health Sciences. PMID 38496501 DOI: 10.1101/2024.03.05.24303807 |
0.12 |
|
| 2010 |
Hernandez-Vargas H, Lambert MP, Le Calvez-Kelm F, Gouysse G, McKay-Chopin S, Tavtigian SV, Scoazec JY, Herceg Z. Hepatocellular carcinoma displays distinct DNA methylation signatures with potential as clinical predictors. Plos One. 5: e9749. PMID 20305825 DOI: 10.1371/Journal.Pone.0009749 |
0.074 |
|
| 2015 |
Samadder NJ, Neklason D, Kanth P, Byrne KR, Samowitz W, Jasperson K, Kohlmann W, Gammon A, Champine M, Nathan D, Boucher KM, Greene T, Pappas L, Fang JC, Valentine JF, ... ... Tavtigian SV, et al. 447 Effect of COX and EGFR Inhibition on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Placebo-Controlled Trial Gastroenterology. 148: S-93-S-94. DOI: 10.1016/S0016-5085(15)30322-X |
0.072 |
|
| 2015 |
Samadder NJ, Neklason D, Kanth P, Byrne KR, Samowitz W, Jasperson K, Kohlmann W, Gammon A, Champine M, Nathan D, Boucher KM, Greene T, Pappas L, Fang JC, Valentine JF, ... ... Tavtigian SV, et al. 447 Effect of COX and EGFR Inhibition on Duodenal Neoplasia in Familial Adenomatous Polyposis: a Randomized Placebo-Controlled Trial Gastrointestinal Endoscopy. 81: AB148. DOI: 10.1016/J.Gie.2015.03.1238 |
0.072 |
|
| 2011 |
Tavtigian SV. Comparison of programs for in silico assessment of missense substitutions. Human Mutation. 32: v. PMID 21618348 DOI: 10.1002/humu.21532 |
0.065 |
|
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