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Items: 15

1.

Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error.

Kothiyal P, Wong WSW, Bodian DL, Niederhuber JE.

J Comput Biol. 2019 May;26(5):405-419. doi: 10.1089/cmb.2018.0253. Epub 2019 Apr 3.

2.

Genomic and molecular characterization of preterm birth.

Knijnenburg TA, Vockley JG, Chambwe N, Gibbs DL, Humphries C, Huddleston KC, Klein E, Kothiyal P, Tasseff R, Dhankani V, Bodian DL, Wong WSW, Glusman G, Mauldin DE, Miller M, Slagel J, Elasady S, Roach JC, Kramer R, Leinonen K, Linthorst J, Baveja R, Baker R, Solomon BD, Eley G, Iyer RK, Maxwell GL, Bernard B, Shmulevich I, Hood L, Niederhuber JE.

Proc Natl Acad Sci U S A. 2019 Mar 19;116(12):5819-5827. doi: 10.1073/pnas.1716314116. Epub 2019 Mar 4.

3.

Pitfalls of clinical exome and gene panel testing: alternative transcripts.

Bodian DL, Kothiyal P, Hauser NS.

Genet Med. 2019 May;21(5):1240-1245. doi: 10.1038/s41436-018-0319-7. Epub 2018 Oct 8.

PMID:
30293991
4.

New observations on maternal age effect on germline de novo mutations.

Wong WS, Solomon BD, Bodian DL, Kothiyal P, Eley G, Huddleston KC, Baker R, Thach DC, Iyer RK, Vockley JG, Niederhuber JE.

Nat Commun. 2016 Jan 19;7:10486. doi: 10.1038/ncomms10486.

5.

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

Bodian DL, Klein E, Iyer RK, Wong WS, Kothiyal P, Stauffer D, Huddleston KC, Gaither AD, Remsburg I, Khromykh A, Baker RL, Maxwell GL, Vockley JG, Niederhuber JE, Solomon BD.

Genet Med. 2016 Mar;18(3):221-30. doi: 10.1038/gim.2015.111. Epub 2015 Sep 3.

PMID:
26334177
6.

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014 Apr 11;9(4):e94554. doi: 10.1371/journal.pone.0094554. eCollection 2014.

7.

Comprehensive molecular characterization of clear cell renal cell carcinoma.

Cancer Genome Atlas Research Network.

Nature. 2013 Jul 4;499(7456):43-9. doi: 10.1038/nature12222. Epub 2013 Jun 23.

8.

Integrated genomic characterization of endometrial carcinoma.

Cancer Genome Atlas Research Network, Kandoth C, Schultz N, Cherniack AD, Akbani R, Liu Y, Shen H, Robertson AG, Pashtan I, Shen R, Benz CC, Yau C, Laird PW, Ding L, Zhang W, Mills GB, Kucherlapati R, Mardis ER, Levine DA.

Nature. 2013 May 2;497(7447):67-73. doi: 10.1038/nature12113. Erratum in: Nature. 2013 Aug 8;500(7461):242.

9.

Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.

Cancer Genome Atlas Research Network, Ley TJ, Miller C, Ding L, Raphael BJ, Mungall AJ, Robertson A, Hoadley K, Triche TJ Jr, Laird PW, Baty JD, Fulton LL, Fulton R, Heath SE, Kalicki-Veizer J, Kandoth C, Klco JM, Koboldt DC, Kanchi KL, Kulkarni S, Lamprecht TL, Larson DE, Lin L, Lu C, McLellan MD, McMichael JF, Payton J, Schmidt H, Spencer DH, Tomasson MH, Wallis JW, Wartman LD, Watson MA, Welch J, Wendl MC, Ally A, Balasundaram M, Birol I, Butterfield Y, Chiu R, Chu A, Chuah E, Chun HJ, Corbett R, Dhalla N, Guin R, He A, Hirst C, Hirst M, Holt RA, Jones S, Karsan A, Lee D, Li HI, Marra MA, Mayo M, Moore RA, Mungall K, Parker J, Pleasance E, Plettner P, Schein J, Stoll D, Swanson L, Tam A, Thiessen N, Varhol R, Wye N, Zhao Y, Gabriel S, Getz G, Sougnez C, Zou L, Leiserson MD, Vandin F, Wu HT, Applebaum F, Baylin SB, Akbani R, Broom BM, Chen K, Motter TC, Nguyen K, Weinstein JN, Zhang N, Ferguson ML, Adams C, Black A, Bowen J, Gastier-Foster J, Grossman T, Lichtenberg T, Wise L, Davidsen T, Demchok JA, Shaw KR, Sheth M, Sofia HJ, Yang L, Downing JR, Eley G.

N Engl J Med. 2013 May 30;368(22):2059-74. doi: 10.1056/NEJMoa1301689. Epub 2013 May 1. Erratum in: N Engl J Med. 2013 Jul 4;369(1):98.

10.

Comprehensive molecular portraits of human breast tumours.

Cancer Genome Atlas Network.

Nature. 2012 Oct 4;490(7418):61-70. doi: 10.1038/nature11412. Epub 2012 Sep 23.

11.

Comprehensive genomic characterization of squamous cell lung cancers.

Cancer Genome Atlas Research Network.

Nature. 2012 Sep 27;489(7417):519-25. doi: 10.1038/nature11404. Epub 2012 Sep 9. Erratum in: Nature. 2012 Nov 8;491(7423):288. Rogers, Kristen [corrected to Rodgers, Kristen].

12.

Comprehensive molecular characterization of human colon and rectal cancer.

Cancer Genome Atlas Network.

Nature. 2012 Jul 18;487(7407):330-7. doi: 10.1038/nature11252.

13.

A pilot study to evaluate pharmaceutical pictograms in a multispecialty hospital at dehradun.

Joshi Y, Kothiyal P.

J Young Pharm. 2011 Apr;3(2):163-6. doi: 10.4103/0975-1483.80306.

14.

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

Kothiyal P, Cox S, Ebert J, Husami A, Kenna MA, Greinwald JH, Aronow BJ, Rehm HL.

BMC Biotechnol. 2010 Feb 10;10:10. doi: 10.1186/1472-6750-10-10.

15.

An overview of custom array sequencing.

Kothiyal P, Cox S, Ebert J, Aronow BJ, Greinwald JH, Rehm HL.

Curr Protoc Hum Genet. 2009 Apr;Chapter 7:Unit 7.17. doi: 10.1002/0471142905.hg0717s61.

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