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Items: 1 to 50 of 446

1.

MYCN amplification and ATRX mutations are incompatible in neuroblastoma.

Zeineldin M, Federico S, Chen X, Fan Y, Xu B, Stewart E, Zhou X, Jeon J, Griffiths L, Nguyen R, Norrie J, Easton J, Mulder H, Yergeau D, Liu Y, Wu J, Van Ryn C, Naranjo A, Hogarty MD, Kamiński MM, Valentine M, Pruett-Miller SM, Pappo A, Zhang J, Clay MR, Bahrami A, Vogel P, Lee S, Shelat A, Sarthy JF, Meers MP, George RE, Mardis ER, Wilson RK, Henikoff S, Downing JR, Dyer MA.

Nat Commun. 2020 Feb 14;11(1):913. doi: 10.1038/s41467-020-14682-6.

2.

The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.

Koboldt DC, Waldrop MA, Wilson RK, Flanigan KM.

Ann Neurol. 2020 Apr;87(4):487-496. doi: 10.1002/ana.25704. Review.

PMID:
32057122
3.

De novo primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) NFIA/CBFA2T3 translocation.

Liu H, Guinipero TL, Schieffer KM, Carter C, Colace S, Leonard JR, Orr BA, Kahwash SB, Brennan PJ, Fitch JR, Kelly B, Magrini VJ, White P, Wilson RK, Mardis ER, Cottrell CE, Boué DR.

Haematologica. 2020 Apr;105(4):e194-e197. doi: 10.3324/haematol.2019.231928. Epub 2020 Jan 16. No abstract available.

4.

Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.

Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK.

Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6). pii: a004176. doi: 10.1101/mcs.a004176. Print 2019 Dec.

5.

Whole Exome Sequencing of Highly Aggregated Lung Cancer Families Reveals Linked Loci for Increased Cancer Risk on Chromosomes 12q, 7p, and 4q.

Musolf AM, Moiz BA, Sun H, Pikielny CW, Bossé Y, Mandal D, de Andrade M, Gaba C, Yang P, Li Y, You M, Govindan R, Wilson RK, Kupert EY, Anderson MW, Schwartz AG, Pinney SM, Amos CI, Bailey-Wilson JE.

Cancer Epidemiol Biomarkers Prev. 2020 Feb;29(2):434-442. doi: 10.1158/1055-9965.EPI-19-0887. Epub 2019 Dec 11.

PMID:
31826912
6.

Clinical prioritisation questions: A novel assessment tool to encourage tolerance of uncertainty?

Sam AH, Wilson RK, Lupton M, Melville C, Halse O, Harris J, Meeran K.

Med Teach. 2019 Dec 9:1-6. doi: 10.1080/0142159X.2019.1687864. [Epub ahead of print]

PMID:
31816262
7.

Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.

Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H; FinnGen Project, Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB.

Nature. 2019 Nov;575(7783):E4. doi: 10.1038/s41586-019-1726-x.

PMID:
31686056
8.

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Cantwell L, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimäki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Valladares O, Vardarajan B, Wang LS, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X; Alzheimer’s Disease Sequencing Project, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, Farrer LA.

Mol Psychiatry. 2019 Oct 21. doi: 10.1038/s41380-019-0529-7. [Epub ahead of print]

PMID:
31636380
9.

Traditional signs and symptoms commonly attributed to hypogonadism do not correlate with testosterone levels: the Cooper Center Longitudinal Study Experience.

DeFina LF, Radford NB, Leonard D, Wilson RK, Cooper TC, Clark SM, Vega GL, Barlow CE, Willis BL, Gibbons LW, Gruntmanis U.

J Investig Med. 2020 Feb;68(2):378-382. doi: 10.1136/jim-2019-001083. Epub 2019 Sep 20.

PMID:
31540967
10.

Comparative genomic analysis of six Glossina genomes, vectors of African trypanosomes.

Attardo GM, Abd-Alla AMM, Acosta-Serrano A, Allen JE, Bateta R, Benoit JB, Bourtzis K, Caers J, Caljon G, Christensen MB, Farrow DW, Friedrich M, Hua-Van A, Jennings EC, Larkin DM, Lawson D, Lehane MJ, Lenis VP, Lowy-Gallego E, Macharia RW, Malacrida AR, Marco HG, Masiga D, Maslen GL, Matetovici I, Meisel RP, Meki I, Michalkova V, Miller WJ, Minx P, Mireji PO, Ometto L, Parker AG, Rio R, Rose C, Rosendale AJ, Rota-Stabelli O, Savini G, Schoofs L, Scolari F, Swain MT, Takáč P, Tomlinson C, Tsiamis G, Van Den Abbeele J, Vigneron A, Wang J, Warren WC, Waterhouse RM, Weirauch MT, Weiss BL, Wilson RK, Zhao X, Aksoy S.

Genome Biol. 2019 Sep 2;20(1):187. doi: 10.1186/s13059-019-1768-2.

11.

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

Morgan A, Koboldt DC, Barrie ES, Crist ER, García García G, Mezzavilla M, Faletra F, Mihalic Mosher T, Wilson RK, Blanchet C, Manickam K, Roux AF, Gasparini P, Dell'Orco D, Girotto G.

Hum Mutat. 2019 Dec;40(12):2286-2295. doi: 10.1002/humu.23891. Epub 2019 Oct 1.

PMID:
31397523
12.

Exome sequencing of Finnish isolates enhances rare-variant association power.

Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H; FinnGen Project, Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB.

Nature. 2019 Aug;572(7769):323-328. doi: 10.1038/s41586-019-1457-z. Epub 2019 Jul 31. Erratum in: Nature. 2019 Nov;575(7783):E4.

13.

Dialling down the temperature.

Wilson RK.

Nat Hum Behav. 2018 Sep;2(9):618-619. doi: 10.1038/s41562-018-0421-5. No abstract available.

PMID:
31346279
14.

Streptococcus oralis subsp. dentisani Produces Monolateral Serine-Rich Repeat Protein Fibrils, One of Which Contributes to Saliva Binding via Sialic Acid.

Ronis A, Brockman K, Singh AK, Gaytán MO, Wong A, McGrath S, Owen CD, Magrini V, Wilson RK, van der Linden M, King SJ.

Infect Immun. 2019 Sep 19;87(10). pii: e00406-19. doi: 10.1128/IAI.00406-19. Print 2019 Oct.

15.

Using prescribing very short answer questions to identify sources of medication errors: a prospective study in two UK medical schools.

Sam AH, Fung CY, Wilson RK, Peleva E, Kluth DC, Lupton M, Owen DR, Melville CR, Meeran K.

BMJ Open. 2019 Jul 9;9(7):e028863. doi: 10.1136/bmjopen-2018-028863.

16.

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.

Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL.

Eur J Hum Genet. 2019 Oct;27(10):1569-1577. doi: 10.1038/s41431-019-0464-8. Epub 2019 Jul 5.

PMID:
31278392
17.

Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.

Darby CA, Fitch JR, Brennan PJ, Kelly BJ, Bir N, Magrini V, Leonard J, Cottrell CE, Gastier-Foster JM, Wilson RK, Mardis ER, White P, Langmead B, Schatz MC.

iScience. 2019 Aug 30;18:1-10. doi: 10.1016/j.isci.2019.05.037. Epub 2019 May 29.

18.

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.

Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE.

Eur J Med Genet. 2019 Aug;62(8):103701. doi: 10.1016/j.ejmg.2019.103701. Epub 2019 Jun 10.

PMID:
31195167
19.

Fungal Lanosterol 14α-demethylase: A target for next-generation antifungal design.

Monk BC, Sagatova AA, Hosseini P, Ruma YN, Wilson RK, Keniya MV.

Biochim Biophys Acta Proteins Proteom. 2020 Mar;1868(3):140206. doi: 10.1016/j.bbapap.2019.02.008. Epub 2019 Mar 6. Review.

PMID:
30851431
20.

Characterizing the Major Structural Variant Alleles of the Human Genome.

Audano PA, Sulovari A, Graves-Lindsay TA, Cantsilieris S, Sorensen M, Welch AE, Dougherty ML, Nelson BJ, Shah A, Dutcher SK, Warren WC, Magrini V, McGrath SD, Li YI, Wilson RK, Eichler EE.

Cell. 2019 Jan 24;176(3):663-675.e19. doi: 10.1016/j.cell.2018.12.019. Epub 2019 Jan 17.

21.

The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment.

Brady SW, Ma X, Bahrami A, Satas G, Wu G, Newman S, Rusch M, Putnam DK, Mulder HL, Yergeau DA, Edmonson MN, Easton J, Alexandrov LB, Chen X, Mardis ER, Wilson RK, Downing JR, Pappo AS, Raphael BJ, Dyer MA, Zhang J.

Mol Cancer Res. 2019 Apr;17(4):895-906. doi: 10.1158/1541-7786.MCR-18-0620. Epub 2019 Jan 16.

22.

Association of Tumor Microenvironment T-cell Repertoire and Mutational Load with Clinical Outcome after Sequential Checkpoint Blockade in Melanoma.

Yusko E, Vignali M, Wilson RK, Mardis ER, Hodi FS, Horak C, Chang H, Woods DM, Robins H, Weber J.

Cancer Immunol Res. 2019 Mar;7(3):458-465. doi: 10.1158/2326-6066.CIR-18-0226. Epub 2019 Jan 11.

23.

Long-read sequence and assembly of segmental duplications.

Vollger MR, Dishuck PC, Sorensen M, Welch AE, Dang V, Dougherty ML, Graves-Lindsay TA, Wilson RK, Chaisson MJP, Eichler EE.

Nat Methods. 2019 Jan;16(1):88-94. doi: 10.1038/s41592-018-0236-3. Epub 2018 Dec 17.

24.

Author Correction: The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL, Spies NC, Anurag M, Griffith M, Luo J, Tu D, Yeo B, Kunisaki J, Miller CA, Krysiak K, Hundal J, Ainscough BJ, Skidmore ZL, Campbell K, Kumar R, Fronick C, Cook L, Snider JE, Davies S, Kavuri SM, Chang EC, Magrini V, Larson DE, Fulton RS, Liu S, Leung S, Voduc D, Bose R, Dowsett M, Wilson RK, Nielsen TO, Mardis ER, Ellis MJ.

Nat Commun. 2018 Nov 14;9(1):4850. doi: 10.1038/s41467-018-07407-3.

25.

The association of cardiorespiratory fitness, body mass index, and age with testosterone levels at screening of healthy men undergoing preventive medical examinations: The Cooper Center Longitudinal Study.

DeFina LF, Radford NB, Leonard D, Wilson RK, Cooper TC, Clark SM, Willis BL, Vega GL, Barlow CE, Farrell SW, Gibbons LW, Yildiz BO, Gruntmanis U.

Maturitas. 2018 Dec;118:1-6. doi: 10.1016/j.maturitas.2018.09.004. Epub 2018 Sep 29.

PMID:
30415749
26.

Azole Resistance Reduces Susceptibility to the Tetrazole Antifungal VT-1161.

Monk BC, Keniya MV, Sabherwal M, Wilson RK, Graham DO, Hassan HF, Chen D, Tyndall JDA.

Antimicrob Agents Chemother. 2018 Dec 21;63(1). pii: e02114-18. doi: 10.1128/AAC.02114-18. Print 2019 Jan.

27.

Immune Escape of Relapsed AML Cells after Allogeneic Transplantation.

Christopher MJ, Petti AA, Rettig MP, Miller CA, Chendamarai E, Duncavage EJ, Klco JM, Helton NM, O'Laughlin M, Fronick CC, Fulton RS, Wilson RK, Wartman LD, Welch JS, Heath SE, Baty JD, Payton JE, Graubert TA, Link DC, Walter MJ, Westervelt P, Ley TJ, DiPersio JF.

N Engl J Med. 2018 Dec 13;379(24):2330-2341. doi: 10.1056/NEJMoa1808777. Epub 2018 Oct 31.

28.

Publisher Correction: Ancient hybridization and strong adaptation to viruses across African vervet monkey populations.

Svardal H, Jasinska AJ, Apetrei C, Coppola G, Huang Y, Schmitt CA, Jacquelin B, Ramensky V, Müller-Trutwin M, Antonio M, Weinstock G, Grobler JP, Dewar K, Wilson RK, Turner TR, Warren WC, Freimer NB, Nordborg M.

Nat Genet. 2018 Nov;50(11):1617. doi: 10.1038/s41588-018-0124-x.

29.

Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.

Wagner AH, Devarakonda S, Skidmore ZL, Krysiak K, Ramu A, Trani L, Kunisaki J, Masood A, Waqar SN, Spies NC, Morgensztern D, Waligorski J, Ponce J, Fulton RS, Maggi LB Jr, Weber JD, Watson MA, O'Conor CJ, Ritter JH, Olsen RR, Cheng H, Mukhopadhyay A, Can I, Cessna MH, Oliver TG, Mardis ER, Wilson RK, Griffith M, Griffith OL, Govindan R.

Nat Commun. 2018 Sep 17;9(1):3787. doi: 10.1038/s41467-018-06162-9.

30.

The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL, Spies NC, Anurag M, Griffith M, Luo J, Tu D, Yeo B, Kunisaki J, Miller CA, Krysiak K, Hundal J, Ainscough BJ, Skidmore ZL, Campbell K, Kumar R, Fronick C, Cook L, Snider JE, Davies S, Kavuri SM, Chang EC, Magrini V, Larson DE, Fulton RS, Liu S, Leung S, Voduc D, Bose R, Dowsett M, Wilson RK, Nielsen TO, Mardis ER, Ellis MJ.

Nat Commun. 2018 Sep 4;9(1):3476. doi: 10.1038/s41467-018-05914-x. Erratum in: Nat Commun. 2018 Nov 14;9(1):4850.

31.

Identification of Therapeutic Targets in Rhabdomyosarcoma through Integrated Genomic, Epigenomic, and Proteomic Analyses.

Stewart E, McEvoy J, Wang H, Chen X, Honnell V, Ocarz M, Gordon B, Dapper J, Blankenship K, Yang Y, Li Y, Shaw TI, Cho JH, Wang X, Xu B, Gupta P, Fan Y, Liu Y, Rusch M, Griffiths L, Jeon J, Freeman BB 3rd, Clay MR, Pappo A, Easton J, Shurtleff S, Shelat A, Zhou X, Boggs K, Mulder H, Yergeau D, Bahrami A, Mardis ER, Wilson RK, Zhang J, Peng J, Downing JR, Dyer MA; St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project.

Cancer Cell. 2018 Sep 10;34(3):411-426.e19. doi: 10.1016/j.ccell.2018.07.012. Epub 2018 Aug 23.

32.

Crystal Structures of Full-Length Lanosterol 14α-Demethylases of Prominent Fungal Pathogens Candida albicans and Candida glabrata Provide Tools for Antifungal Discovery.

Keniya MV, Sabherwal M, Wilson RK, Woods MA, Sagatova AA, Tyndall JDA, Monk BC.

Antimicrob Agents Chemother. 2018 Oct 24;62(11). pii: e01134-18. doi: 10.1128/AAC.01134-18. Print 2018 Nov.

33.

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Cantwell L, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimäki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Valladares O, Vardarajan B, Wang LS, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X; Alzheimer’s Disease Sequencing Project, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, Farrer LA.

Mol Psychiatry. 2018 Aug 14. doi: 10.1038/s41380-018-0112-7. [Epub ahead of print] Erratum in: Mol Psychiatry. 2019 Oct 21;:.

34.

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.

Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003160. doi: 10.1101/mcs.a003160. Print 2018 Oct.

35.

Recurrent injury patterns in adolescent rugby.

Archbold HAP, Rankin AT, Webb M, Nicholas R, Eames NWA, Wilson RK, Henderson LA, Heyes GJ, Davies R, Bleakley CM.

Phys Ther Sport. 2018 Sep;33:12-17. doi: 10.1016/j.ptsp.2018.06.005. Epub 2018 Jun 18.

PMID:
29935429
36.

High-resolution comparative analysis of great ape genomes.

Kronenberg ZN, Fiddes IT, Gordon D, Murali S, Cantsilieris S, Meyerson OS, Underwood JG, Nelson BJ, Chaisson MJP, Dougherty ML, Munson KM, Hastie AR, Diekhans M, Hormozdiari F, Lorusso N, Hoekzema K, Qiu R, Clark K, Raja A, Welch AE, Sorensen M, Baker C, Fulton RS, Armstrong J, Graves-Lindsay TA, Denli AM, Hoppe ER, Hsieh P, Hill CM, Pang AWC, Lee J, Lam ET, Dutcher SK, Gage FH, Warren WC, Shendure J, Haussler D, Schneider VA, Cao H, Ventura M, Wilson RK, Paten B, Pollen A, Eichler EE.

Science. 2018 Jun 8;360(6393). pii: eaar6343. doi: 10.1126/science.aar6343.

37.

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.

Cantsilieris S, Nelson BJ, Huddleston J, Baker C, Harshman L, Penewit K, Munson KM, Sorensen M, Welch AE, Dang V, Grassmann F, Richardson AJ, Guymer RH, Graves-Lindsay TA, Wilson RK, Weber BHF, Baird PN, Allikmets R, Eichler EE.

Proc Natl Acad Sci U S A. 2018 May 8;115(19):E4433-E4442. doi: 10.1073/pnas.1717600115. Epub 2018 Apr 23.

38.

Improving eukaryotic genome annotation using single molecule mRNA sequencing.

Magrini V, Gao X, Rosa BA, McGrath S, Zhang X, Hallsworth-Pepin K, Martin J, Hawdon J, Wilson RK, Mitreva M.

BMC Genomics. 2018 Mar 1;19(1):172. doi: 10.1186/s12864-018-4555-7.

39.

Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma.

Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER.

Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2). pii: a002618. doi: 10.1101/mcs.a002618. Print 2018 Apr.

40.

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.

Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P.

Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3). pii: a002410. doi: 10.1101/mcs.a002410. Print 2018 Jun.

41.

The effect of well-characterized, very low-dose x-ray radiation on fibroblasts.

Truong K, Bradley S, Baginski B, Wilson JR, Medlin D, Zheng L, Wilson RK, Rusin M, Takacs E, Dean D.

PLoS One. 2018 Jan 4;13(1):e0190330. doi: 10.1371/journal.pone.0190330. eCollection 2018.

42.

Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data.

Huddleston J, Chaisson MJP, Steinberg KM, Warren W, Hoekzema K, Gordon D, Graves-Lindsay TA, Munson KM, Kronenberg ZN, Vives L, Peluso P, Boitano M, Chin CS, Korlach J, Wilson RK, Eichler EE.

Genome Res. 2018 Jan;28(1):144. doi: 10.1101/gr.233007.117. No abstract available.

43.

Genetic variation and gene expression across multiple tissues and developmental stages in a nonhuman primate.

Jasinska AJ, Zelaya I, Service SK, Peterson CB, Cantor RM, Choi OW, DeYoung J, Eskin E, Fairbanks LA, Fears S, Furterer AE, Huang YS, Ramensky V, Schmitt CA, Svardal H, Jorgensen MJ, Kaplan JR, Villar D, Aken BL, Flicek P, Nag R, Wong ES, Blangero J, Dyer TD, Bogomolov M, Benjamini Y, Weinstock GM, Dewar K, Sabatti C, Wilson RK, Jentsch JD, Warren W, Coppola G, Woods RP, Freimer NB.

Nat Genet. 2017 Dec;49(12):1714-1721. doi: 10.1038/ng.3959. Epub 2017 Oct 30.

44.

Ancient hybridization and strong adaptation to viruses across African vervet monkey populations.

Svardal H, Jasinska AJ, Apetrei C, Coppola G, Huang Y, Schmitt CA, Jacquelin B, Ramensky V, Müller-Trutwin M, Antonio M, Weinstock G, Grobler JP, Dewar K, Wilson RK, Turner TR, Warren WC, Freimer NB, Nordborg M.

Nat Genet. 2017 Dec;49(12):1705-1713. doi: 10.1038/ng.3980. Epub 2017 Oct 30. Erratum in: Nat Genet. 2018 Nov;50(11):1617.

45.

Corrigendum: The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2.

Ventura M, Catacchio CR, Sajjadian S, Vives L, Sudmant PH, Marques-Bonet T, Graves TA, Wilson RK, Eichler EE.

Genome Res. 2017 Sep;27(9):1621.1. doi: 10.1101/gr.226878.117. No abstract available.

46.

Orthotopic patient-derived xenografts of paediatric solid tumours.

Stewart E, Federico SM, Chen X, Shelat AA, Bradley C, Gordon B, Karlstrom A, Twarog NR, Clay MR, Bahrami A, Freeman BB 3rd, Xu B, Zhou X, Wu J, Honnell V, Ocarz M, Blankenship K, Dapper J, Mardis ER, Wilson RK, Downing J, Zhang J, Easton J, Pappo A, Dyer MA.

Nature. 2017 Sep 7;549(7670):96-100. doi: 10.1038/nature23647. Epub 2017 Aug 30.

47.

Corrigendum: Whole genome analysis of a schistosomiasis-transmitting freshwater snail.

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