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Items: 1 to 50 of 185

1.

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Sagardia AM, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA.

Genet Med. 2019 May;21(5):1261-1262. doi: 10.1038/s41436-019-0440-2.

PMID:
30670880
2.

A case for expanding carrier testing to include actionable X-linked disorders.

Rope AF, Kauffman TL, Himes P, Amendola LM, Punj S, Akkari Y, Potter A, Davis JV, Schneider JL, Reiss JA, Gilmore MJ, McMullen CK, Nickerson DA, Richards CS, Jarvik GP, Wilfond BS, Goddard KAB.

Clin Case Rep. 2018 Sep 19;6(11):2092-2095. doi: 10.1002/ccr3.1806. eCollection 2018 Nov.

3.

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Zhang S, Taylor AK, Huang X, Luo B, Spector EB, Fang P, Richards CS; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2018 Dec;20(12):1489-1498. doi: 10.1038/s41436-018-0322-z. Epub 2018 Oct 5.

PMID:
30297698
4.

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA.

Genet Med. 2019 May;21(5):1100-1110. doi: 10.1038/s41436-018-0308-x. Epub 2018 Oct 5. Erratum in: Genet Med. 2019 Jan 22;:.

PMID:
30287922
5.

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.

Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom K, Biesecker LG, Biswas S, Bowling KM, Chung WK, Clayton EW, Conlin LK, Cooper GM, Dulik MC, Garraway LA, Ghazani AA, Green RC, Hiatt SM, Jamal SM, Jarvik GP, Goddard KAB, Wilfond BS; members of the CSER Actionability and Return of Results Working Group.

Mol Genet Genomic Med. 2018 Nov;6(6):898-909. doi: 10.1002/mgg3.453. Epub 2018 Aug 21.

6.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Punj S, Akkari Y, Huang J, Yang F, Creason A, Pak C, Potter A, Dorschner MO, Nickerson DA, Robertson PD, Jarvik GP, Amendola LM, Schleit J, Simpson DK, Rope AF, Reiss J, Kauffman T, Gilmore MJ, Himes P, Wilfond B, Goddard KAB, Richards CS.

Am J Hum Genet. 2018 Jun 7;102(6):1078-1089. doi: 10.1016/j.ajhg.2018.04.004. Epub 2018 May 10.

7.

Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making.

Wilfond BS, Kauffman TL, Jarvik GP, Reiss JA, Richards CS, McMullen C, Gilmore M, Himes P, Kraft SA, Porter KM, Schneider JL, Punj S, Leo MC, Dickerson JF, Lynch FL, Clarke E, Rope AF, Lutz K, Goddard KAB.

Health Aff (Millwood). 2018 May;37(5):809-816. doi: 10.1377/hlthaff.2017.1578.

PMID:
29733724
8.

Response to Biesecker and Harrison.

Richards CS, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG/AMP Interpretation of Sequence Variants Work Group 2015.

Genet Med. 2018 Dec;20(12):1689-1690. doi: 10.1038/gim.2018.43. No abstract available.

PMID:
29543230
9.
10.

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.

Himes P, Kauffman TL, Muessig KR, Amendola LM, Berg JS, Dorschner MO, Gilmore M, Nickerson DA, Reiss JA, Richards CS, Rope AF, Simpson DK, Wilfond BS, Jarvik GP, Goddard KAB.

Genet Med. 2017 Jul;19(7):803-808. doi: 10.1038/gim.2016.198. Epub 2017 Jan 12.

11.

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.

Kauffman TL, Wilfond BS, Jarvik GP, Leo MC, Lynch FL, Reiss JA, Richards CS, McMullen C, Nickerson D, Dorschner MO, Goddard KA.

Contemp Clin Trials. 2017 Feb;53:100-105. doi: 10.1016/j.cct.2016.12.007. Epub 2016 Dec 7.

12.

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT.

Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. Erratum in: Genet Med. 2017 Apr;19(4):484.

PMID:
27854360
13.

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.

14.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

Am J Hum Genet. 2016 Jul 7;99(1):247. doi: 10.1016/j.ajhg.2016.06.001. No abstract available.

15.

Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.

Richards CS, Palomaki GE, Hegde M.

Genet Med. 2016 Dec;18(12):1290-1294. doi: 10.1038/gim.2016.59. Epub 2016 Jun 2.

PMID:
27253733
16.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. Erratum in: Am J Hum Genet. 2016 Jul 7;99(1):247.

17.

Generating a taxonomy for genetic conditions relevant to reproductive planning.

Korngiebel DM, McMullen CK, Amendola LM, Berg JS, Davis JV, Gilmore MJ, Harding CO, Himes P, Jarvik GP, Kauffman TL, Kennedy KA, Simpson DK, Leo MC, Lynch FL, Quigley DI, Reiss JA, Richards CS, Rope AF, Schneider JL, Goddard KA, Wilfond BS.

Am J Med Genet A. 2016 Mar;170(3):565-73. doi: 10.1002/ajmg.a.37513.

18.

Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.

Gessner BD, Wood T, Johnson MA, Richards CS, Koeller DM.

Genet Med. 2016 Sep;18(9):933-9. doi: 10.1038/gim.2015.197. Epub 2016 Jan 28.

19.

Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.

Leo MC, McMullen C, Wilfond BS, Lynch FL, Reiss JA, Gilmore MJ, Himes P, Kauffman TL, Davis JV, Jarvik GP, Berg JS, Harding C, Kennedy KA, Simpson DK, Quigley DI, Richards CS, Rope AF, Goddard KA.

Am J Med Genet A. 2016 Mar;170(3):574-82. doi: 10.1002/ajmg.a.37477. Epub 2016 Jan 21.

20.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

21.

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
22.

Does KRAS testing in metastatic colorectal cancer impact overall survival? A comparative effectiveness study in a population-based sample.

Feigelson HS, Zeng C, Pawloski PA, Onitilo AA, Richards CS, Johnson MA, Kauffman TL, Webster J, Nyirenda C, Alexander GL, Hwang C, Cross D, McCarty CA, Davis RL, Schwarzkopf D, Williams AE, Honda S, Daida Y, Kushi LH, Delate T, Goddard KA; CERGEN Study Team.

PLoS One. 2014 May 1;9(5):e94977. doi: 10.1371/journal.pone.0094977. eCollection 2014.

23.

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.

24.

Depression and coping in subthreshold eating disorders.

Dennard EE, Richards CS.

Eat Behav. 2013 Aug;14(3):325-9. doi: 10.1016/j.eatbeh.2013.05.011. Epub 2013 May 22.

PMID:
23910775
25.

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.

Richards CS, Palomaki GE, Lacbawan FL, Lyon E, Feldman GL; CAP/ACMG Biochemical and Molecular Genetics Resource Committee.

Genet Med. 2014 Jan;16(1):25-32. doi: 10.1038/gim.2013.65. Epub 2013 May 23.

PMID:
23703682
26.

ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions.

Monaghan KG, Benkendorf J, Cherry AM, Gross SJ, Richards CS, Sutton VR, Watson MS; Laboratory Quality Assurance Committee of the American College of Medical Genetics and Genomics; Professional Practice and Guidelines Committee of the American College of Medical Genetics and Genomics.

Genet Med. 2013 Apr;15(4):314-5. doi: 10.1038/gim.2012.178. Epub 2013 Jan 24. No abstract available.

PMID:
23348768
27.

Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update.

Veenstra DL, Piper M, Haddow JE, Pauker SG, Klein R, Richards CS, Tunis SR, Djulbegovic B, Marrone M, Lin JS, Berg AO, Calonge N.

Genet Med. 2013 Jan;15(1):14-24. doi: 10.1038/gim.2012.106. Epub 2012 Sep 6. Review.

28.

Decomposed liver has a significantly adverse affect on the development rate of the blowfly Calliphora vicina.

Richards CS, Rowlinson CC, Cuttiford L, Grimsley R, Hall MJ.

Int J Legal Med. 2013 Jan;127(1):259-62. doi: 10.1007/s00414-012-0697-3. Epub 2012 Apr 26.

29.

Reliability of KRAS mutation testing in metastatic colorectal cancer patients across five laboratories.

Feigelson HS, Goddard KA, Johnson MA, Funk KC, Rahm AK, Kauffman TL, Chitale DA, Le Marchand L, Richards CS.

BMC Res Notes. 2012 Apr 25;5:196. doi: 10.1186/1756-0500-5-196.

30.

Virtual forensic entomology: improving estimates of minimum post-mortem interval with 3D micro-computed tomography.

Richards CS, Simonsen TJ, Abel RL, Hall MJ, Schwyn DA, Wicklein M.

Forensic Sci Int. 2012 Jul 10;220(1-3):251-64. doi: 10.1016/j.forsciint.2012.03.012. Epub 2012 Apr 10.

31.

Treating depressed and anxious smokers in smoking cessation programs.

Richards CS, Cohen LM, Morrell HE, Watson NL, Low BE.

J Consult Clin Psychol. 2013 Apr;81(2):263-73. doi: 10.1037/a0027793. Epub 2012 Mar 19. Review.

PMID:
22428940
32.

Effects of storage temperature on the change in size of Calliphora vicina larvae during preservation in 80% ethanol.

Richards CS, Rowlinson CC, Hall MJ.

Int J Legal Med. 2013 Jan;127(1):231-41. doi: 10.1007/s00414-012-0683-9. Epub 2012 Mar 8.

33.

Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey.

Palomaki GE, Richards CS.

Genet Med. 2012 Jan;14(1):69-75. doi: 10.1038/gim.0b013e3182310bb5. Epub 2011 Sep 26.

PMID:
22237433
34.

Quality assurance and quality improvement in U.S. clinical molecular genetic laboratories.

Chen B, Richards CS, Wilson JA, Lyon E.

Curr Protoc Hum Genet. 2011 Apr;Chapter 9:Unit9.2. doi: 10.1002/0471142905.hg0902s69.

PMID:
21480184
35.

Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.

Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L.

J Mol Diagn. 2011 Mar;13(2):167-74. doi: 10.1016/j.jmoldx.2010.11.018.

36.

Forensic entomology: applications and limitations.

Amendt J, Richards CS, Campobasso CP, Zehner R, Hall MJ.

Forensic Sci Med Pathol. 2011 Dec;7(4):379-92. doi: 10.1007/s12024-010-9209-2. Epub 2011 Jan 7. Review.

PMID:
21213072
37.

The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.

International HIV Controllers Study, Pereyra F, Jia X, McLaren PJ, Telenti A, de Bakker PI, Walker BD, Ripke S, Brumme CJ, Pulit SL, Carrington M, Kadie CM, Carlson JM, Heckerman D, Graham RR, Plenge RM, Deeks SG, Gianniny L, Crawford G, Sullivan J, Gonzalez E, Davies L, Camargo A, Moore JM, Beattie N, Gupta S, Crenshaw A, Burtt NP, Guiducci C, Gupta N, Gao X, Qi Y, Yuki Y, Piechocka-Trocha A, Cutrell E, Rosenberg R, Moss KL, Lemay P, O'Leary J, Schaefer T, Verma P, Toth I, Block B, Baker B, Rothchild A, Lian J, Proudfoot J, Alvino DM, Vine S, Addo MM, Allen TM, Altfeld M, Henn MR, Le Gall S, Streeck H, Haas DW, Kuritzkes DR, Robbins GK, Shafer RW, Gulick RM, Shikuma CM, Haubrich R, Riddler S, Sax PE, Daar ES, Ribaudo HJ, Agan B, Agarwal S, Ahern RL, Allen BL, Altidor S, Altschuler EL, Ambardar S, Anastos K, Anderson B, Anderson V, Andrady U, Antoniskis D, Bangsberg D, Barbaro D, Barrie W, Bartczak J, Barton S, Basden P, Basgoz N, Bazner S, Bellos NC, Benson AM, Berger J, Bernard NF, Bernard AM, Birch C, Bodner SJ, Bolan RK, Boudreaux ET, Bradley M, Braun JF, Brndjar JE, Brown SJ, Brown K, Brown ST, Burack J, Bush LM, Cafaro V, Campbell O, Campbell J, Carlson RH, Carmichael JK, Casey KK, Cavacuiti C, Celestin G, Chambers ST, Chez N, Chirch LM, Cimoch PJ, Cohen D, Cohn LE, Conway B, Cooper DA, Cornelson B, Cox DT, Cristofano MV, Cuchural G Jr, Czartoski JL, Dahman JM, Daly JS, Davis BT, Davis K, Davod SM, DeJesus E, Dietz CA, Dunham E, Dunn ME, Ellerin TB, Eron JJ, Fangman JJ, Farel CE, Ferlazzo H, Fidler S, Fleenor-Ford A, Frankel R, Freedberg KA, French NK, Fuchs JD, Fuller JD, Gaberman J, Gallant JE, Gandhi RT, Garcia E, Garmon D, Gathe JC Jr, Gaultier CR, Gebre W, Gilman FD, Gilson I, Goepfert PA, Gottlieb MS, Goulston C, Groger RK, Gurley TD, Haber S, Hardwicke R, Hardy WD, Harrigan PR, Hawkins TN, Heath S, Hecht FM, Henry WK, Hladek M, Hoffman RP, Horton JM, Hsu RK, Huhn GD, Hunt P, Hupert MJ, Illeman ML, Jaeger H, Jellinger RM, John M, Johnson JA, Johnson KL, Johnson H, Johnson K, Joly J, Jordan WC, Kauffman CA, Khanlou H, Killian RK, Kim AY, Kim DD, Kinder CA, Kirchner JT, Kogelman L, Kojic EM, Korthuis PT, Kurisu W, Kwon DS, LaMar M, Lampiris H, Lanzafame M, Lederman MM, Lee DM, Lee JM, Lee MJ, Lee ET, Lemoine J, Levy JA, Llibre JM, Liguori MA, Little SJ, Liu AY, Lopez AJ, Loutfy MR, Loy D, Mohammed DY, Man A, Mansour MK, Marconi VC, Markowitz M, Marques R, Martin JN, Martin HL Jr, Mayer KH, McElrath MJ, McGhee TA, McGovern BH, McGowan K, McIntyre D, Mcleod GX, Menezes P, Mesa G, Metroka CE, Meyer-Olson D, Miller AO, Montgomery K, Mounzer KC, Nagami EH, Nagin I, Nahass RG, Nelson MO, Nielsen C, Norene DL, O'Connor DH, Ojikutu BO, Okulicz J, Oladehin OO, Oldfield EC 3rd, Olender SA, Ostrowski M, Owen WF Jr, Pae E, Parsonnet J, Pavlatos AM, Perlmutter AM, Pierce MN, Pincus JM, Pisani L, Price LJ, Proia L, Prokesch RC, Pujet HC, Ramgopal M, Rathod A, Rausch M, Ravishankar J, Rhame FS, Richards CS, Richman DD, Rodes B, Rodriguez M, Rose RC 3rd, Rosenberg ES, Rosenthal D, Ross PE, Rubin DS, Rumbaugh E, Saenz L, Salvaggio MR, Sanchez WC, Sanjana VM, Santiago S, Schmidt W, Schuitemaker H, Sestak PM, Shalit P, Shay W, Shirvani VN, Silebi VI, Sizemore JM Jr, Skolnik PR, Sokol-Anderson M, Sosman JM, Stabile P, Stapleton JT, Starrett S, Stein F, Stellbrink HJ, Sterman FL, Stone VE, Stone DR, Tambussi G, Taplitz RA, Tedaldi EM, Telenti A, Theisen W, Torres R, Tosiello L, Tremblay C, Tribble MA, Trinh PD, Tsao A, Ueda P, Vaccaro A, Valadas E, Vanig TJ, Vecino I, Vega VM, Veikley W, Wade BH, Walworth C, Wanidworanun C, Ward DJ, Warner DA, Weber RD, Webster D, Weis S, Wheeler DA, White DJ, Wilkins E, Winston A, Wlodaver CG, van't Wout A, Wright DP, Yang OO, Yurdin DL, Zabukovic BW, Zachary KC, Zeeman B, Zhao M.

Science. 2010 Dec 10;330(6010):1551-7. doi: 10.1126/science.1195271. Epub 2010 Nov 4.

38.

Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.

Gessner BD, Gillingham MB, Johnson MA, Richards CS, Lambert WE, Sesser D, Rien LC, Hermerath CA, Skeels MR, Birch S, Harding CO, Wood T, Koeller DM.

J Pediatr. 2011 Jan;158(1):124-9. doi: 10.1016/j.jpeds.2010.07.031. Epub 2010 Sep 16.

PMID:
20843525
39.

Data quality in thermal summation development models for forensically important blowflies.

Richards CS, Villet MH.

Med Vet Entomol. 2009 Sep;23(3):269-76. doi: 10.1111/j.1365-2915.2009.00819.x.

PMID:
19712157
40.

Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

Moghrabi NN, Johnson MA, Yoshitomi MJ, Zhu X, Al-Dhalimy MJ, Olson SB, Grompe M, Richards CS.

Genet Med. 2009 Mar;11(3):183-92. doi: 10.1097/GIM.0b013e318193ba67.

PMID:
19367192
41.

Planning the human variome project: the Spain report.

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, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Möslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Töpel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS; Contributors to the Human Variome Project Planning Meeting.

Hum Mutat. 2009 Apr;30(4):496-510. doi: 10.1002/humu.20972.

42.

Models of development for blowfly sister species Chrysomya chloropyga and Chrysomya putoria.

Richards CS, Crous KL, Villet MH.

Med Vet Entomol. 2009 Mar;23(1):56-61. doi: 10.1111/j.1365-2915.2008.00767.x.

PMID:
19239614
43.

GENETICS. The Human Variome Project.

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, Maglott D, Möslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido MJ, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J, Watson M.

Science. 2008 Nov 7;322(5903):861-2. doi: 10.1126/science.1167363.

44.

Factors affecting accuracy and precision of thermal summation models of insect development used to estimate post-mortem intervals.

Richards CS, Villet MH.

Int J Legal Med. 2008 Sep;122(5):401-8. doi: 10.1007/s00414-008-0243-5. Epub 2008 Jun 21.

PMID:
18568360
45.

New quality assurance standards for rare disease testing.

Grody WW, Richards CS.

Genet Med. 2008 May;10(5):320-4. doi: 10.1097/GIM.0b013e31817283ba. No abstract available.

PMID:
18496029
46.

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee.

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PMID:
18414213
47.

Consensus characterization of 16 FMR1 reference materials: a consortium study.

Amos Wilson J, Pratt VM, Phansalkar A, Muralidharan K, Highsmith WE Jr, Beck JC, Bridgeman S, Courtney EM, Epp L, Ferreira-Gonzalez A, Hjelm NL, Holtegaard LM, Jama MA, Jakupciak JP, Johnson MA, Labrousse P, Lyon E, Prior TW, Richards CS, Richie KL, Roa BB, Rohlfs EM, Sellers T, Sherman SL, Siegrist KA, Silverman LM, Wiszniewska J, Kalman LV; Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee.

J Mol Diagn. 2008 Jan;10(1):2-12. doi: 10.2353/jmoldx.2008.070105. Epub 2007 Dec 28. Erratum in: J Mol Diagn. 2009 Sep 1;11(5):494.

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Development of genomic reference materials for Huntington disease genetic testing.

Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS.

Genet Med. 2007 Oct;9(10):719-23.

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Comorbidity between depression and disordered eating in adolescents.

Santos M, Richards CS, Bleckley MK.

Eat Behav. 2007 Dec;8(4):440-9. Epub 2007 Mar 28.

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17950932
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Estimating the age of immature Chrysomya albiceps (Diptera: Calliphoridae), correcting for temperature and geographical latitude.

Richards CS, Paterson ID, Villet MH.

Int J Legal Med. 2008 Jul;122(4):271-9. Epub 2007 Sep 26.

PMID:
17899152

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