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Items: 1 to 50 of 146

1.

Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.

Park J, Damrauer SM, Baras A, Reid JG, Overton JD, Gonzalez-Alegre P.

Neurol Genet. 2019 Sep 13;5(5):e358. doi: 10.1212/NXG.0000000000000358. eCollection 2019 Oct.

2.

ALG9 Mutation Carriers Develop Kidney and Liver Cysts.

Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S; Regeneron Genetics Center, Torres VE, Somlo S, Mirshahi T.

J Am Soc Nephrol. 2019 Nov;30(11):2091-2102. doi: 10.1681/ASN.2019030298. Epub 2019 Aug 8.

PMID:
31395617
3.

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.

Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.

JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140.

4.

The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders.

Chen C, Meng Q, Xia Y, Ding C, Wang L, Dai R, Cheng L, Gunaratne P, Gibbs RA, Min S, Coarfa C, Reid JG, Zhang C, Jiao C, Jiang Y, Giase G, Thomas A, Fitzgerald D, Brunetti T, Shieh A, Xia C, Wang Y, Wang Y, Badner JA, Gershon ES, White KP, Liu C.

Sci Transl Med. 2018 Dec 19;10(472). pii: eaat8178. doi: 10.1126/scitranslmed.aat8178. Epub 2018 Dec 13.

5.

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.

Bohnen MS, Ma L, Zhu N, Qi H, McClenaghan C, Gonzaga-Jauregui C, Dewey FE, Overton JD, Reid JG, Shuldiner AR, Baras A, Sampson KJ, Bleda M, Hadinnapola C, Haimel M, Bogaard HJ, Church C, Coghlan G, Corris PA, Eyries M, Gibbs JSR, Girerd B, Houweling AC, Humbert M, Guignabert C, Kiely DG, Lawrie A, MacKenzie Ross RV, Martin JM, Montani D, Peacock AJ, Pepke-Zaba J, Soubrier F, Suntharalingam J, Toshner M, Treacy CM, Trembath RC, Vonk Noordegraaf A, Wharton J, Wilkins MR, Wort SJ, Yates K, Gräf S, Morrell NW, Krishnan U, Rosenzweig EB, Shen Y, Nichols CG, Kass RS, Chung WK.

Circ Genom Precis Med. 2018 Oct;11(10):e002087. doi: 10.1161/CIRCGEN.118.002087.

6.

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.

Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA.

Hum Mol Genet. 2019 Feb 15;28(4):525-538. doi: 10.1093/hmg/ddy344.

PMID:
30304524
7.

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

Zhu N, Welch CL, Wang J, Allen PM, Gonzaga-Jauregui C, Ma L, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Pauciulo MW, Lutz KA, Nichols WC, Reid JG, Overton JD, Baras A, Dewey FE, Shen Y, Chung WK.

Genome Med. 2018 Jul 20;10(1):56. doi: 10.1186/s13073-018-0566-x.

8.

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

Gusarova V, O'Dushlaine C, Teslovich TM, Benotti PN, Mirshahi T, Gottesman O, Van Hout CV, Murray MF, Mahajan A, Nielsen JB, Fritsche L, Wulff AB, Gudbjartsson DF, Sjögren M, Emdin CA, Scott RA, Lee WJ, Small A, Kwee LC, Dwivedi OP, Prasad RB, Bruse S, Lopez AE, Penn J, Marcketta A, Leader JB, Still CD, Kirchner HL, Mirshahi UL, Wardeh AH, Hartle CM, Habegger L, Fetterolf SN, Tusie-Luna T, Morris AP, Holm H, Steinthorsdottir V, Sulem P, Thorsteinsdottir U, Rotter JI, Chuang LM, Damrauer S, Birtwell D, Brummett CM, Khera AV, Natarajan P, Orho-Melander M, Flannick J, Lotta LA, Willer CJ, Holmen OL, Ritchie MD, Ledbetter DH, Murphy AJ, Borecki IB, Reid JG, Overton JD, Hansson O, Groop L, Shah SH, Kraus WE, Rader DJ, Chen YI, Hveem K, Wareham NJ, Kathiresan S, Melander O, Stefansson K, Nordestgaard BG, Tybjærg-Hansen A, Abecasis GR, Altshuler D, Florez JC, Boehnke M, McCarthy MI, Yancopoulos GD, Carey DJ, Shuldiner AR, Baras A, Dewey FE, Gromada J.

Nat Commun. 2018 Jun 13;9(1):2252. doi: 10.1038/s41467-018-04611-z.

9.

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.

Staples J, Maxwell EK, Gosalia N, Gonzaga-Jauregui C, Snyder C, Hawes A, Penn J, Ulloa R, Bai X, Lopez AE, Van Hout CV, O'Dushlaine C, Teslovich TM, McCarthy SE, Balasubramanian S, Kirchner HL, Leader JB, Murray MF, Ledbetter DH, Shuldiner AR, Yancoupolos GD, Dewey FE, Carey DJ, Overton JD, Baras A, Habegger L, Reid JG.

Am J Hum Genet. 2018 May 3;102(5):874-889. doi: 10.1016/j.ajhg.2018.03.012.

10.

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Zhu N, Gonzaga-Jauregui C, Welch CL, Ma L, Qi H, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Nichols WC, Pauciulo MW, Lutz KA, Sawle A, Reid JG, Overton JD, Baras A, Dewey F, Shen Y, Chung WK.

Circ Genom Precis Med. 2018 Apr;11(4):e001887. doi: 10.1161/CIRCGEN.117.001887.

11.

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.

Abul-Husn NS, Cheng X, Li AH, Xin Y, Schurmann C, Stevis P, Liu Y, Kozlitina J, Stender S, Wood GC, Stepanchick AN, Still MD, McCarthy S, O'Dushlaine C, Packer JS, Balasubramanian S, Gosalia N, Esopi D, Kim SY, Mukherjee S, Lopez AE, Fuller ED, Penn J, Chu X, Luo JZ, Mirshahi UL, Carey DJ, Still CD, Feldman MD, Small A, Damrauer SM, Rader DJ, Zambrowicz B, Olson W, Murphy AJ, Borecki IB, Shuldiner AR, Reid JG, Overton JD, Yancopoulos GD, Hobbs HH, Cohen JC, Gottesman O, Teslovich TM, Baras A, Mirshahi T, Gromada J, Dewey FE.

N Engl J Med. 2018 Mar 22;378(12):1096-1106. doi: 10.1056/NEJMoa1712191.

12.

Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.

Gorvin CM, Metpally R, Stokes VJ, Hannan FM, Krishnamurthy SB, Overton JD, Reid JG, Breitwieser GE, Thakker RV.

Hum Mol Genet. 2018 Mar 1;27(5):901-911. doi: 10.1093/hmg/ddy010.

13.

Improving amphibian genomic resources: a multitissue reference transcriptome of an iconic invader.

Richardson MF, Sequeira F, Selechnik D, Carneiro M, Vallinoto M, Reid JG, West AJ, Crossland MR, Shine R, Rollins LA.

Gigascience. 2018 Jan 1;7(1):1-7. doi: 10.1093/gigascience/gix114.

14.

Genomic diagnostics within a medically underserved population: efficacy and implications.

Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG.

Genet Med. 2018 Jan;20(1):31-41. doi: 10.1038/gim.2017.76. Epub 2017 Jul 20.

PMID:
28726809
15.

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.

Dewey FE, Gusarova V, Dunbar RL, O'Dushlaine C, Schurmann C, Gottesman O, McCarthy S, Van Hout CV, Bruse S, Dansky HM, Leader JB, Murray MF, Ritchie MD, Kirchner HL, Habegger L, Lopez A, Penn J, Zhao A, Shao W, Stahl N, Murphy AJ, Hamon S, Bouzelmat A, Zhang R, Shumel B, Pordy R, Gipe D, Herman GA, Sheu WHH, Lee IT, Liang KW, Guo X, Rotter JI, Chen YI, Kraus WE, Shah SH, Damrauer S, Small A, Rader DJ, Wulff AB, Nordestgaard BG, Tybjærg-Hansen A, van den Hoek AM, Princen HMG, Ledbetter DH, Carey DJ, Overton JD, Reid JG, Sasiela WJ, Banerjee P, Shuldiner AR, Borecki IB, Teslovich TM, Yancopoulos GD, Mellis SJ, Gromada J, Baras A.

N Engl J Med. 2017 Jul 20;377(3):211-221. doi: 10.1056/NEJMoa1612790. Epub 2017 May 24.

16.

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.

Haggerty CM, James CA, Calkins H, Tichnell C, Leader JB, Hartzel DN, Nevius CD, Pendergrass SA, Person TN, Schwartz M, Ritchie MD, Carey DJ, Ledbetter DH, Williams MS, Dewey FE, Lopez A, Penn J, Overton JD, Reid JG, Lebo M, Mason-Suares H, Austin-Tse C, Rehm HL, Delisle BP, Makowski DJ, Mehra VC, Murray MF, Fornwalt BK.

Genet Med. 2017 Nov;19(11):1245-1252. doi: 10.1038/gim.2017.40. Epub 2017 May 4.

17.

Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish.

Xu H, Ryan KA, Jaworek TJ, Southam L, Reid JG, Overton JD, Baras A, Puurunen MK, Zeggini E, Taylor SI, Shuldiner AR, Mitchell BD.

Diabetes. 2017 Jul;66(7):2054-2058. doi: 10.2337/db17-0173. Epub 2017 Apr 20.

18.

Genetic identification of familial hypercholesterolemia within a single U.S. health care system.

Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF.

Science. 2016 Dec 23;354(6319). pii: aaf7000. doi: 10.1126/science.aaf7000.

PMID:
28008010
19.

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ.

Science. 2016 Dec 23;354(6319). pii: aaf6814. doi: 10.1126/science.aaf6814.

PMID:
28008009
20.

Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.

Dewey FE, Gusarova V, O'Dushlaine C, Gottesman O, Trejos J, Hunt C, Van Hout CV, Habegger L, Buckler D, Lai KM, Leader JB, Murray MF, Ritchie MD, Kirchner HL, Ledbetter DH, Penn J, Lopez A, Borecki IB, Overton JD, Reid JG, Carey DJ, Murphy AJ, Yancopoulos GD, Baras A, Gromada J, Shuldiner AR.

N Engl J Med. 2016 Mar 24;374(12):1123-33. doi: 10.1056/NEJMoa1510926. Epub 2016 Mar 2.

21.

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, Ramamurthy U, McGuire AL, Hilsenbeck SG, Reid JG, Muzny DM, Wheeler DA, Berg SL, Chintagumpala MM, Eng CM, Gibbs RA, Plon SE.

JAMA Oncol. 2016 May 1;2(5):616-624. doi: 10.1001/jamaoncol.2015.5699.

22.

A global reference for human genetic variation.

1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR.

Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393.

23.

CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data.

Packer JS, Maxwell EK, O'Dushlaine C, Lopez AE, Dewey FE, Chernomorsky R, Baras A, Overton JD, Habegger L, Reid JG.

Bioinformatics. 2016 Jan 1;32(1):133-5. doi: 10.1093/bioinformatics/btv547. Epub 2015 Sep 17.

24.

Assessing structural variation in a personal genome-towards a human reference diploid genome.

English AC, Salerno WJ, Hampton OA, Gonzaga-Jauregui C, Ambreth S, Ritter DI, Beck CR, Davis CF, Dahdouli M, Ma S, Carroll A, Veeraraghavan N, Bruestle J, Drees B, Hastie A, Lam ET, White S, Mishra P, Wang M, Han Y, Zhang F, Stankiewicz P, Wheeler DA, Reid JG, Muzny DM, Rogers J, Sabo A, Worley KC, Lupski JR, Boerwinkle E, Gibbs RA.

BMC Genomics. 2015 Apr 11;16:286. doi: 10.1186/s12864-015-1479-3.

25.

The somatic genomic landscape of chromophobe renal cell carcinoma.

Davis CF, Ricketts CJ, Wang M, Yang L, Cherniack AD, Shen H, Buhay C, Kang H, Kim SC, Fahey CC, Hacker KE, Bhanot G, Gordenin DA, Chu A, Gunaratne PH, Biehl M, Seth S, Kaipparettu BA, Bristow CA, Donehower LA, Wallen EM, Smith AB, Tickoo SK, Tamboli P, Reuter V, Schmidt LS, Hsieh JJ, Choueiri TK, Hakimi AA; The Cancer Genome Atlas Research Network, Chin L, Meyerson M, Kucherlapati R, Park WY, Robertson AG, Laird PW, Henske EP, Kwiatkowski DJ, Park PJ, Morgan M, Shuch B, Muzny D, Wheeler DA, Linehan WM, Gibbs RA, Rathmell WK, Creighton CJ.

Cancer Cell. 2014 Sep 8;26(3):319-330. doi: 10.1016/j.ccr.2014.07.014. Epub 2014 Aug 21.

26.

Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R.

Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8. doi: 10.1073/pnas.1324128111. Epub 2014 Jul 21.

27.

Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.

Cornes BK, Brody JA, Nikpoor N, Morrison AC, Chu H, Ahn BS, Wang S, Dauriz M, Barzilay JI, Dupuis J, Florez JC, Coresh J, Gibbs RA, Kao WHL, Liu CT, McKnight B, Muzny D, Pankow JS, Reid JG, White CC, Johnson AD, Wong TY, Psaty BM, Boerwinkle E, Rotter JI, Siscovick DS, Sladek R, Meigs JB.

Circ Cardiovasc Genet. 2014 Jun;7(3):374-382. doi: 10.1161/CIRCGENETICS.113.000169.

28.

Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.

Liu CT, Young KL, Brody JA, Olden M, Wojczynski MK, Heard-Costa N, Li G, Morrison AC, Muzny D, Gibbs RA, Reid JG, Shao Y, Zhou Y, Boerwinkle E, Heiss G, Wagenknecht L, McKnight B, Borecki IB, Fox CS, North KE, Cupples LA.

Circ Cardiovasc Genet. 2014 Jun;7(3):344-9. doi: 10.1161/CIRCGENETICS.13.000067.

29.

Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.

Lin H, Wang M, Brody JA, Bis JC, Dupuis J, Lumley T, McKnight B, Rice KM, Sitlani CM, Reid JG, Bressler J, Liu X, Davis BC, Johnson AD, O'Donnell CJ, Kovar CL, Dinh H, Wu Y, Newsham I, Chen H, Broka A, DeStefano AL, Gupta M, Lunetta KL, Liu CT, White CC, Xing C, Zhou Y, Benjamin EJ, Schnabel RB, Heckbert SR, Psaty BM, Muzny DM, Cupples LA, Morrison AC, Boerwinkle E.

Circ Cardiovasc Genet. 2014 Jun;7(3):335-43. doi: 10.1161/CIRCGENETICS.113.000350.

30.

PBHoney: identifying genomic variants via long-read discordance and interrupted mapping.

English AC, Salerno WJ, Reid JG.

BMC Bioinformatics. 2014 Jun 10;15:180. doi: 10.1186/1471-2105-15-180.

31.

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline.

Reid JG, Carroll A, Veeraraghavan N, Dahdouli M, Sundquist A, English A, Bainbridge M, White S, Salerno W, Buhay C, Yu F, Muzny D, Daly R, Duyk G, Gibbs RA, Boerwinkle E.

BMC Bioinformatics. 2014 Jan 29;15:30. doi: 10.1186/1471-2105-15-30.

32.

The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera.

Wang L, Swierczek SI, Lanikova L, Kim SJ, Hickman K, Walker K, Wang K, Drummond J, Doddapaneni H, Reid JG, Muzny DM, Gibbs RA, Wheeler DA, Prchal JT.

Leukemia. 2014 Apr;28(4):938-41. doi: 10.1038/leu.2014.20. Epub 2014 Jan 27. No abstract available.

33.

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.

Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, Gibbs RA, Wiszniewski W.

JAMA Neurol. 2013 Dec;70(12):1491-8. doi: 10.1001/jamaneurol.2013.4598.

34.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

35.

Lamotrigine in psychiatric disorders.

Reid JG, Gitlin MJ, Altshuler LL.

J Clin Psychiatry. 2013 Jul;74(7):675-84. doi: 10.4088/JCP.12r08046. Review.

PMID:
23945444
36.

Radiographic diagnosis of scapholunate dissociation among intra-articular fractures of the distal radius: interobserver reliability.

Gradl G, Neuhaus V, Fuchsberger T, Guitton TG, Prommersberger KJ, Ring D; Science of Variation Group.

J Hand Surg Am. 2013 Sep;38(9):1685-90. doi: 10.1016/j.jhsa.2013.05.039. Epub 2013 Jul 30.

PMID:
23910379
37.

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA.

Genome Med. 2013 Jun 27;5(6):57. doi: 10.1186/gm461. eCollection 2013.

38.

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.

39.

Scapula fractures: interobserver reliability of classification and treatment.

Neuhaus V, Bot AG, Guitton TG, Ring DC; Science of Variation Group, Abdel-Ghany MI, Abrams J, Abzug JM, Adolfsson LE, Balfour GW, Bamberger HB, Barquet A, Baskies M, Batson WA, Baxamusa T, Bayne GJ, Begue T, Behrman M, Beingessner D, Biert J, Bishop J, Alves MB, Boyer M, Brilej D, Brink PR, Brunton LM, Buckley R, Cagnone JC, Calfee RP, Campinhos LA, Cassidy C, Catalano L 3rd, Chivers K, Choudhari P, Cimerman M, Conflitti JM, Costanzo RM, Crist BD, Cross BJ, Dantuluri P, Darowish M, de Bedout R, DeCoster T, Dennison DG, DeNoble PH, DeSilva G, Dienstknecht T, Duncan SF, Duralde XA, Durchholz H, Egol K, Ekholm C, Elias N, Erickson JM, Esparza JD, Fernandes CH, Fischer TJ, Fischmeister M, Forigua Jaime E, Getz CL, Gilbert RS, Giordano V, Glaser DL, Gosens T, Grafe MW, Filho JE, Gray RR, Gulotta LV, Gummerson NW, Hammerberg EM, Harvey E, Haverlag R, Henry PD, Hobby JL, Hofmeister EP, Hughes T, Itamura J, Jebson P, Jenkinson R, Jeray K, Jones CM, Jones J, Jubel A, Kaar SG, Kabir K, Kaplan FT, Kennedy SA, Kessler MW, Kimball HL, Kloen P, Klostermann C, Kohut G, Kraan GA, Kristan A, Loebenberg MI, Malone KJ, Marsh L, Martineau PA, McAuliffe J, McGraw I, Mehta S, Merchant M, Metzger C, Meylaerts SA, Miller AN, Wolf JM, Murachovsky J, Murthi A, Nancollas M, Nolan BM, Omara T, Omid R, Ortiz JA, Overbeck JP, Castillo AP, Pesantez R, Polatsch D, Porcellini G, Prayson M, Quell M, Ragsdell MM, Reid JG, Reuver JM, Richard MJ, Richardson M, Rizzo M, Rowinski S, Rubio J, Guerrero CG, Satora W, Schandelmaier P, Scheer JH, Schmidt A, Schubkegel TA, Schulte LM, Schumer ED, Sears BW, Shafritz AB, Shortt NL, Siff T, Silva DM, Smith RM, Spruijt S, Stein JA, Pemovska ES, Streubel PN, Swigart C, Swiontkowski M, Thomas G, Tolo ET, Turina M, Tyllianakis M, van den Bekerom MP, van der Heide H, van de Sande MA, van Eerten PV, Verbeek DO, Hoffmann DV, Vochteloo AJ, Wagenmakers R, Wall CJ, Wallensten R, Wascher DC, Weiss L, Wiater JM, Wills BP, Wint J, Wright T, Young JP, Zalavras C, Zura RD, Zyto K.

J Orthop Trauma. 2014 Mar;28(3):124-9. doi: 10.1097/BOT.0b013e31829673e2.

40.

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.

Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C, Lim E, Bodea CA, Muzny D, Reid JG, Banks E, Coon H, Depristo M, Dinh H, Fennel T, Flannick J, Gabriel S, Garimella K, Gross S, Hawes A, Lewis L, Makarov V, Maguire J, Newsham I, Poplin R, Ripke S, Shakir K, Samocha KE, Wu Y, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Schellenberg GD, Sutcliffe JS, Daly MJ, Gibbs RA, Roeder K.

PLoS Genet. 2013 Apr;9(4):e1003443. doi: 10.1371/journal.pgen.1003443. Epub 2013 Apr 11.

41.

Complete Genome Sequence of Elephant Endotheliotropic Herpesvirus 1A.

Ling PD, Reid JG, Qin X, Muzny DM, Gibbs R, Petrosino J, Peng R, Zong JC, Heaggans SY, Hayward GS.

Genome Announc. 2013 Apr 11;1(2):e0010613. doi: 10.1128/genomeA.00106-13.

42.

Variation in recommendation for surgical treatment for compressive neuropathy.

Hageman MG, Becker SJ, Bot AG, Guitton T, Ring D; Science of Variation Group.

J Hand Surg Am. 2013 May;38(5):856-62. doi: 10.1016/j.jhsa.2013.02.008. Epub 2013 Apr 3.

PMID:
23561726
43.

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

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