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Items: 1 to 50 of 70

1.

Frequency and clinical outcomes of CYP2C19 genotype-guided escalation and de-escalation of antiplatelet therapy in a real-world clinical setting.

Martin J, Williams AK, Klein MD, Sriramoju VB, Madan S, Rossi JS, Clarke M, Cicci JD, Cavallari LH, Weck KE, Stouffer GA, Lee CR.

Genet Med. 2019 Jul 18. doi: 10.1038/s41436-019-0611-1. [Epub ahead of print]

PMID:
31316169
2.

Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists.

Pratt VM, Cavallari LH, Del Tredici AL, Hachad H, Ji Y, Moyer AM, Scott SA, Whirl-Carrillo M, Weck KE.

J Mol Diagn. 2019 Sep;21(5):746-755. doi: 10.1016/j.jmoldx.2019.04.003. Epub 2019 May 8. Review.

PMID:
31075510
3.

CYP2C19 Genotype-Guided Antiplatelet Therapy and 30-Day Outcomes After Percutaneous Coronary Intervention.

Williams AK, Klein MD, Martin J, Weck KE, Rossi JS, Stouffer GA, Lee CR.

Circ Genom Precis Med. 2019 Feb;12(2):e002441. doi: 10.1161/CIRCGEN.119.002441. No abstract available.

PMID:
30779635
4.

Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.

Haskell GT, Mori M, Powell C, Amrhein TJ, Rice GI, Bailey L, Strande N, Weck KE, Evans JP, Berg JS, Kishnani P.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a002758. doi: 10.1101/mcs.a002758. Print 2018 Oct.

5.

The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort.

Sanders CD, Leigh MW, Chao KC, Weck KE, King I, Wolf WE, Campbell DJ, Knowles MR, Zariwala MA, Shapiro AJ.

Pediatr Pulmonol. 2018 Nov;53(11):1565-1573. doi: 10.1002/ppul.24159. Epub 2018 Sep 20.

PMID:
30238669
6.

Clinical Outcomes and Sustainability of Using CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention.

Lee CR, Sriramoju VB, Cervantes A, Howell LA, Varunok N, Madan S, Hamrick K, Polasek MJ, Lee JA, Clarke M, Cicci JD, Weck KE, Stouffer GA.

Circ Genom Precis Med. 2018 Apr;11(4):e002069. doi: 10.1161/CIRCGEN.117.002069.

7.

"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.

Skinner D, Roche MI, Weck KE, Raspberry KA, Foreman AKM, Strande NT, Berg JS, Evans JP, Henderson GE.

Genet Med. 2018 Mar;20(3):313-319. doi: 10.1038/gim.2017.135. Epub 2017 Oct 2.

8.

Recommendations for Clinical CYP2C19 Genotyping Allele Selection: A Report of the Association for Molecular Pathology.

Pratt VM, Del Tredici AL, Hachad H, Ji Y, Kalman LV, Scott SA, Weck KE.

J Mol Diagn. 2018 May;20(3):269-276. doi: 10.1016/j.jmoldx.2018.01.011. Epub 2018 Feb 21. Review.

PMID:
29474986
9.

Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty.

Weck KE.

Genet Med. 2018 Mar;20(3):291-293. doi: 10.1038/gim.2017.269. Epub 2018 Feb 1. No abstract available.

PMID:
29388946
10.

Identification of Germline Variants in Tumor Genomic Sequencing Analysis.

Montgomery ND, Selitsky SR, Patel NM, Hayes DN, Parker JS, Weck KE.

J Mol Diagn. 2018 Jan;20(1):123-125. doi: 10.1016/j.jmoldx.2017.09.008.

PMID:
29249243
11.

A Phase I Trial of the PI3K Inhibitor Buparlisib Combined With Capecitabine in Patients With Metastatic Breast Cancer.

McRee AJ, Marcom PK, Moore DT, Zamboni WC, Kornblum ZA, Hu Z, Phipps R, Anders CK, Reeder-Hayes K, Carey LA, Weck KE, Perou CM, Dees EC.

Clin Breast Cancer. 2018 Aug;18(4):289-297. doi: 10.1016/j.clbc.2017.10.014. Epub 2017 Oct 28.

12.

Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention.

Cavallari LH, Lee CR, Beitelshees AL, Cooper-DeHoff RM, Duarte JD, Voora D, Kimmel SE, McDonough CW, Gong Y, Dave CV, Pratt VM, Alestock TD, Anderson RD, Alsip J, Ardati AK, Brott BC, Brown L, Chumnumwat S, Clare-Salzler MJ, Coons JC, Denny JC, Dillon C, Elsey AR, Hamadeh IS, Harada S, Hillegass WB, Hines L, Horenstein RB, Howell LA, Jeng LJB, Kelemen MD, Lee YM, Magvanjav O, Montasser M, Nelson DR, Nutescu EA, Nwaba DC, Pakyz RE, Palmer K, Peterson JF, Pollin TI, Quinn AH, Robinson SW, Schub J, Skaar TC, Smith DM, Sriramoju VB, Starostik P, Stys TP, Stevenson JM, Varunok N, Vesely MR, Wake DT, Weck KE, Weitzel KW, Wilke RA, Willig J, Zhao RY, Kreutz RP, Stouffer GA, Empey PE, Limdi NA, Shuldiner AR, Winterstein AG, Johnson JA; IGNITE Network.

JACC Cardiovasc Interv. 2018 Jan 22;11(2):181-191. doi: 10.1016/j.jcin.2017.07.022. Epub 2017 Nov 1.

13.

Comprehensive assessment of cytochromes P450 and transporter genetics with endoxifen concentration during tamoxifen treatment.

Marcath LA, Deal AM, Van Wieren E, Danko W, Walko CM, Ibrahim JG, Weck KE, Jones DR, Desta Z, McLeod HL, Carey LA, Irvin WJ Jr, Hertz DL.

Pharmacogenet Genomics. 2017 Nov;27(11):402-409. doi: 10.1097/FPC.0000000000000311.

14.

CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.

Oglesbee D, Cowan TM, Pasquali M, Wood TC, Weck KE, Long T, Palomaki GE.

Genet Med. 2018 Jan;20(1):83-90. doi: 10.1038/gim.2017.61. Epub 2017 Jun 29.

15.

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.

Haskell GT, Jensen BC, Samsa LA, Marchuk D, Huang W, Skrzynia C, Tilley C, Seifert BA, Rivera-Muñoz EA, Koller B, Wilhelmsen KC, Liu J, Alhosaini H, Weck KE, Evans JP, Berg JS.

Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001443. doi: 10.1161/CIRCGENETICS.116.001443.

16.
17.

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.

Hegde M, Santani A, Mao R, Ferreira-Gonzalez A, Weck KE, Voelkerding KV.

Arch Pathol Lab Med. 2017 Jun;141(6):798-805. doi: 10.5858/arpa.2016-0622-RA. Epub 2017 Mar 31.

PMID:
28362156
18.

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

Santani A, Murrell J, Funke B, Yu Z, Hegde M, Mao R, Ferreira-Gonzalez A, Voelkerding KV, Weck KE.

Arch Pathol Lab Med. 2017 Jun;141(6):787-797. doi: 10.5858/arpa.2016-0517-RA. Epub 2017 Mar 21.

PMID:
28322587
19.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL.

Genet Med. 2017 May;19(5):575-582. doi: 10.1038/gim.2016.152. Epub 2016 Nov 3.

20.

A panoramic view of the accuracy of molecular genetic testing.

Weck KE, Schrijver I.

Genet Med. 2016 Dec;18(12):1188-1189. doi: 10.1038/gim.2016.116. Epub 2016 Aug 18. No abstract available.

PMID:
27537703
21.

Tamoxifen Dose Escalation in Patients With Diminished CYP2D6 Activity Normalizes Endoxifen Concentrations Without Increasing Toxicity.

Hertz DL, Deal A, Ibrahim JG, Walko CM, Weck KE, Anderson S, Magrinat G, Olajide O, Moore S, Raab R, Carrizosa DR, Corso S, Schwartz G, Graham M, Peppercorn JM, Jones DR, Desta Z, Flockhart DA, Evans JP, McLeod HL, Carey LA, Irvin WJ Jr.

Oncologist. 2016 Jul;21(7):795-803. doi: 10.1634/theoncologist.2015-0480. Epub 2016 May 25.

22.

Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists.

Press RD, Eickelberg G, McDonald TJ, Halley J, Long T, Tafe LJ, Weck KE.

Genet Med. 2016 Dec;18(12):1206-1213. doi: 10.1038/gim.2016.34. Epub 2016 Apr 28.

PMID:
27124787
23.

FNA smears as a potential source of DNA for targeted next-generation sequencing of lung adenocarcinomas.

Treece AL, Montgomery ND, Patel NM, Civalier CJ, Dodd LG, Gulley ML, Booker JK, Weck KE.

Cancer Cytopathol. 2016 Jun;124(6):406-14. doi: 10.1002/cncy.21699. Epub 2016 Feb 16.

24.

Identification of Human Papillomavirus Infection in Cancer Tissue by Targeted Next-generation Sequencing.

Montgomery ND, Parker JS, Eberhard DA, Patel NM, Weck KE, Sharpless NE, Hu Z, Hayes DN, Gulley ML.

Appl Immunohistochem Mol Morphol. 2016 Aug;24(7):490-5. doi: 10.1097/PAI.0000000000000215.

25.

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.

Berg JS, Foreman AK, O'Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP.

Genet Med. 2016 May;18(5):467-75. doi: 10.1038/gim.2015.104. Epub 2015 Aug 13.

26.

Phenotypic heterogeneity in females with X-linked Alport syndrome.

Allred SC, Weck KE, Gasim A, Mottl AK.

Clin Nephrol. 2015 Nov;84(5):296-300. doi: 10.5414/CN108561.

27.

CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.

Shirts BH, Salama JS, Aronson SJ, Chung WK, Gray SW, Hindorff LA, Jarvik GP, Plon SE, Stoffel EM, Tarczy-Hornoch PZ, Van Allen EM, Weck KE, Chute CG, Freimuth RR, Grundmeier RW, Hartzler AL, Li R, Peissig PL, Peterson JF, Rasmussen LV, Starren JB, Williams MS, Overby CL.

J Am Med Inform Assoc. 2015 Nov;22(6):1231-42. doi: 10.1093/jamia/ocv065. Epub 2015 Jul 3.

28.

Combined Targeted DNA Sequencing in Non-Small Cell Lung Cancer (NSCLC) Using UNCseq and NGScopy, and RNA Sequencing Using UNCqeR for the Detection of Genetic Aberrations in NSCLC.

Zhao X, Wang A, Walter V, Patel NM, Eberhard DA, Hayward MC, Salazar AH, Jo H, Soloway MG, Wilkerson MD, Parker JS, Yin X, Zhang G, Siegel MB, Rosson GB, Earp HS 3rd, Sharpless NE, Gulley ML, Weck KE, Hayes DN, Moschos SJ.

PLoS One. 2015 Jun 15;10(6):e0129280. doi: 10.1371/journal.pone.0129280. eCollection 2015.

29.

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

Couser NL, Masood MM, Strande NT, Foreman AK, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM.

Am J Med Genet A. 2015 Sep;167A(9):2176-81. doi: 10.1002/ajmg.a.37129. Epub 2015 Apr 29.

30.

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

Lee K, Berg JS, Milko L, Crooks K, Lu M, Bizon C, Owen P, Wilhelmsen KC, Weck KE, Evans JP, Garg S.

Am J Ophthalmol. 2015 Aug;160(2):354-363.e9. doi: 10.1016/j.ajo.2015.04.026. Epub 2015 Apr 22.

31.

In vivo assessment of the metabolic activity of CYP2D6 diplotypes and alleles.

Hertz DL, Snavely AC, McLeod HL, Walko CM, Ibrahim JG, Anderson S, Weck KE, Magrinat G, Olajide O, Moore S, Raab R, Carrizosa DR, Corso S, Schwartz G, Peppercorn JM, Evans JP, Jones DR, Desta Z, Flockhart DA, Carey LA, Irvin WJ Jr.

Br J Clin Pharmacol. 2015 Nov;80(5):1122-30. doi: 10.1111/bcp.12665. Epub 2015 Aug 2.

32.

Implementation and evaluation of a CYP2C19 genotype-guided antiplatelet therapy algorithm in high-risk coronary artery disease patients.

Lee JA, Lee CR, Reed BN, Plitt DC, Polasek MJ, Howell LA, Cicci JD, Tasca KE, Weck KE, Rossi JS, Stouffer GA.

Pharmacogenomics. 2015;16(4):303-13. doi: 10.2217/pgs.14.180.

PMID:
25823779
33.

A flawed challenge but valid recommendation: a response to Takoudes and Hamar.

Palomaki GE, Ashwood ER, Weck KE.

Ultrasound Obstet Gynecol. 2015 Jan;45(1):117. doi: 10.1002/uog.14739. No abstract available.

34.

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.

Aziz N, Zhao Q, Bry L, Driscoll DK, Funke B, Gibson JS, Grody WW, Hegde MR, Hoeltge GA, Leonard DG, Merker JD, Nagarajan R, Palicki LA, Robetorye RS, Schrijver I, Weck KE, Voelkerding KV.

Arch Pathol Lab Med. 2015 Apr;139(4):481-93. doi: 10.5858/arpa.2014-0250-CP. Epub 2014 Aug 25.

PMID:
25152313
35.

Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.

Lyon E, Schrijver I, Weck KE, Ferreira-Gonzalez A, Richards CS, Palomaki GE; CAP/ACMG Biochemical and Molecular Genetics Committee.

Genet Med. 2015 Mar;17(3):219-25. doi: 10.1038/gim.2014.93. Epub 2014 Jul 31.

PMID:
25077647
36.

Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.

Shapiro AJ, Weck KE, Chao KC, Rosenfeld M, Nygren AO, Knowles MR, Leigh MW, Zariwala MA.

J Pediatr. 2014 Oct;165(4):858-61. doi: 10.1016/j.jpeds.2014.06.048. Epub 2014 Jul 25.

37.

Methods-based proficiency testing in molecular genetic pathology.

Schrijver I, Aziz N, Jennings LJ, Richards CS, Voelkerding KV, Weck KE.

J Mol Diagn. 2014 May;16(3):283-7. doi: 10.1016/j.jmoldx.2014.02.002. Epub 2014 Mar 18.

38.

Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.

Laurin LP, Lu M, Mottl AK, Blyth ER, Poulton CJ, Weck KE.

Nephrol Dial Transplant. 2014 Nov;29(11):2062-9. doi: 10.1093/ndt/gft532. Epub 2014 Feb 4.

PMID:
24500309
39.

Impact of genotype-guided dosing on anticoagulation visits for adults starting warfarin: a randomized controlled trial.

Jonas DE, Evans JP, McLeod HL, Brode S, Lange LA, Young ML, Shilliday BB, Bardsley MM, Swinton-Jenkins NJ, Weck KE.

Pharmacogenomics. 2013 Oct;14(13):1593-603. doi: 10.2217/pgs.13.145.

PMID:
24088130
40.

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.

Tarczy-Hornoch P, Amendola L, Aronson SJ, Garraway L, Gray S, Grundmeier RW, Hindorff LA, Jarvik G, Karavite D, Lebo M, Plon SE, Van Allen E, Weck KE, White PS, Yang Y.

Genet Med. 2013 Oct;15(10):824-32. doi: 10.1038/gim.2013.120. Epub 2013 Sep 26.

41.

Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.

Perera MA, Cavallari LH, Limdi NA, Gamazon ER, Konkashbaev A, Daneshjou R, Pluzhnikov A, Crawford DC, Wang J, Liu N, Tatonetti N, Bourgeois S, Takahashi H, Bradford Y, Burkley BM, Desnick RJ, Halperin JL, Khalifa SI, Langaee TY, Lubitz SA, Nutescu EA, Oetjens M, Shahin MH, Patel SR, Sagreiya H, Tector M, Weck KE, Rieder MJ, Scott SA, Wu AH, Burmester JK, Wadelius M, Deloukas P, Wagner MJ, Mushiroda T, Kubo M, Roden DM, Cox NJ, Altman RB, Klein TE, Nakamura Y, Johnson JA.

Lancet. 2013 Aug 31;382(9894):790-6. doi: 10.1016/S0140-6736(13)60681-9. Epub 2013 Jun 5.

42.

A novel TRPC6 mutation in a family with podocytopathy and clinical variability.

Mottl AK, Lu M, Fine CA, Weck KE.

BMC Nephrol. 2013 May 10;14:104. doi: 10.1186/1471-2369-14-104.

43.

Certification in molecular pathology in the United States: an update from the Association for Molecular Pathology Training and Education Committee.

Mackinnon AC Jr, Wang YL, Sahota A, Yeung CC, Weck KE.

J Mol Diagn. 2012 Nov;14(6):541-9. doi: 10.1016/j.jmoldx.2012.05.004. Epub 2012 Aug 24.

44.

Phase II efficacy and pharmacogenomic study of Selumetinib (AZD6244; ARRY-142886) in iodine-131 refractory papillary thyroid carcinoma with or without follicular elements.

Hayes DN, Lucas AS, Tanvetyanon T, Krzyzanowska MK, Chung CH, Murphy BA, Gilbert J, Mehra R, Moore DT, Sheikh A, Hoskins J, Hayward MC, Zhao N, O'Connor W, Weck KE, Cohen RB, Cohen EE.

Clin Cancer Res. 2012 Apr 1;18(7):2056-65. doi: 10.1158/1078-0432.CCR-11-0563. Epub 2012 Jan 12.

45.

Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009).

Weck KE, Zehnbauer B, Datto M, Schrijver I; CAP/ACMG Biochemical and Molecular Genetics Resource Committee.

Genet Med. 2012 Mar;14(3):306-12. doi: 10.1038/gim.2011.11. Epub 2012 Jan 5.

PMID:
22241100
46.

Design and analytical validation of clinical DNA sequencing assays.

Pont-Kingdon G, Gedge F, Wooderchak-Donahue W, Schrijver I, Weck KE, Kant JA, Oglesbee D, Bayrak-Toydemir P, Lyon E; Biochemical and Molecular Genetic Resource Committee of the College of American Pathologists.

Arch Pathol Lab Med. 2012 Jan;136(1):41-6. doi: 10.5858/arpa.2010-0623-OA.

PMID:
22208486
47.

Verification of performance specifications of a molecular test: cystic fibrosis carrier testing using the Luminex liquid bead array.

Lacbawan FL, Weck KE, Kant JA, Feldman GL, Schrijver I; Biological and Molecular Genetic Resource Committee of the College of American Pathologists.

Arch Pathol Lab Med. 2012 Jan;136(1):14-9. doi: 10.5858/arpa.2010-0536-OA.

PMID:
22208482
48.

Phospho-ERK and AKT status, but not KRAS mutation status, are associated with outcomes in rectal cancer treated with chemoradiotherapy.

Davies JM, Trembath D, Deal AM, Funkhouser WK, Calvo BF, Finnegan T, Weck KE, Tepper JE, O'Neil BH.

Radiat Oncol. 2011 Sep 12;6:114. doi: 10.1186/1748-717X-6-114.

49.

Genotype-guided tamoxifen dosing increases active metabolite exposure in women with reduced CYP2D6 metabolism: a multicenter study.

Irvin WJ Jr, Walko CM, Weck KE, Ibrahim JG, Chiu WK, Dees EC, Moore SG, Olajide OA, Graham ML, Canale ST, Raab RE, Corso SW, Peppercorn JM, Anderson SM, Friedman KJ, Ogburn ET, Desta Z, Flockhart DA, McLeod HL, Evans JP, Carey LA.

J Clin Oncol. 2011 Aug 20;29(24):3232-9. doi: 10.1200/JCO.2010.31.4427. Epub 2011 Jul 18.

50.

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.

Berg JS, Evans JP, Leigh MW, Omran H, Bizon C, Mane K, Knowles MR, Weck KE, Zariwala MA.

Genet Med. 2011 Mar;13(3):218-29. doi: 10.1097/GIM.0b013e318203cff2.

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