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Items: 1 to 20 of 136

1.

Systematic Evaluation of Sanger Validation of NextGen Sequencing Variants.

Beck TF, Mullikin JC; NISC Comparative Sequencing Program, Biesecker LG.

Clin Chem. 2016 Feb 4. pii: clinchem.2015.249623. [Epub ahead of print]

PMID:
26847218
2.

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

Boyden SE, Desai A, Cruse G, Young ML, Bolan HC, Scott LM, Eisch AR, Long RD, Lee CR, Satorius CL, Pakstis AJ, Olivera A, Mullikin JC, Chouery E, Mégarbané A, Medlej-Hashim M, Kidd KK, Kastner DL, Metcalfe DD, Komarow HD.

N Engl J Med. 2016 Feb 3. [Epub ahead of print]

PMID:
26841242
3.

Structures of HIV-1 Env V1V2 with broadly neutralizing antibodies reveal commonalities that enable vaccine design.

Gorman J, Soto C, Yang MM, Davenport TM, Guttman M, Bailer RT, Chambers M, Chuang GY, DeKosky BJ, Doria-Rose NA, Druz A, Ernandes MJ, Georgiev IS, Jarosinski MC, Joyce MG, Lemmin TM, Leung S, Louder MK, McDaniel JR, Narpala S, Pancera M, Stuckey J, Wu X, Yang Y, Zhang B, Zhou T, Program NC, Mullikin JC, Baxa U, Georgiou G, McDermott AB, Bonsignori M, Haynes BF, Moore PL, Morris L, Lee KK, Shapiro L, Mascola JR, Kwong PD.

Nat Struct Mol Biol. 2016 Jan;23(1):81-90. doi: 10.1038/nsmb.3144. Epub 2015 Dec 21.

PMID:
26689967
4.

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.

Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, Yang D, Demirkaya E, Takeuchi M, Tsai WL, Lyons JJ, Yu X, Ouyang C, Chen C, Chin DT, Zaal K, Chandrasekharappa SC, P Hanson E, Yu Z, Mullikin JC, Hasni SA, Wertz IE, Ombrello AK, Stone DL, Hoffmann P, Jones A, Barham BK, Leavis HL, van Royen-Kerkof A, Sibley C, Batu ED, Gül A, Siegel RM, Boehm M, Milner JD, Ozen S, Gadina M, Chae J, Laxer RM, Kastner DL, Aksentijevich I.

Nat Genet. 2016 Jan;48(1):67-73. doi: 10.1038/ng.3459. Epub 2015 Dec 7.

PMID:
26642243
5.

Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.

Cherukuri PF, Maduro V, Fuentes-Fajardo KV, Lam K; NISC Comparative Sequencing Program, Adams DR, Tifft CJ, Mullikin JC, Gahl WA, Boerkoel CF.

BMC Genomics. 2015 Nov 25;16(1):998. doi: 10.1186/s12864-015-2107-y.

6.

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

Kruszka P, Uwineza A, Mutesa L, Martinez AF, Abe Y, Zackai EH, Ganetzky R, Chung B, Stevenson RE, Adelstein RS, Ma X, Mullikin JC, Hong SK, Muenke M.

Mol Genet Genomic Med. 2015 Sep;3(5):424-32. doi: 10.1002/mgg3.153. Epub 2015 May 6.

7.

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, Solomon BD, Niederhuber JE; NISC Comparative Sequencing Program, Gahl WA, Gunay-Aygun M.

J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18.

PMID:
26386044
8.

Neurotranscriptomics: The Effects of Neonatal Stimulus Deprivation on the Rat Pineal Transcriptome.

Hartley SW, Coon SL, Savastano LE, Mullikin JC; NISC Comparative Sequencing Program, Fu C, Klein DC.

PLoS One. 2015 Sep 14;10(9):e0137548. doi: 10.1371/journal.pone.0137548. eCollection 2015.

9.

Evaluation of variant detection software for pooled next-generation sequence data.

Huang HW; NISC Comparative Sequencing Program, Mullikin JC, Hansen NF.

BMC Bioinformatics. 2015 Jul 29;16:235. doi: 10.1186/s12859-015-0624-y.

10.

QoRTs: a comprehensive toolset for quality control and data processing of RNA-Seq experiments.

Hartley SW, Mullikin JC.

BMC Bioinformatics. 2015 Jul 19;16:224. doi: 10.1186/s12859-015-0670-5.

11.

Somatic mutational landscape of AML with inv(16) or t(8;21) identifies patterns of clonal evolution in relapse leukemia.

Sood R, Hansen NF, Donovan FX, Carrington B, Bucci D, Maskeri B, Young A, Trivedi NS, Kohlschmidt J, Stone RM, Caligiuri MA, Chandrasekharappa SC, Marcucci G, Mullikin JC, Bloomfield CD, Liu P.

Leukemia. 2016 Feb;30(2):501-4. doi: 10.1038/leu.2015.141. Epub 2015 Jun 15. No abstract available.

PMID:
26139325
12.

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013.

13.

Structural Repertoire of HIV-1-Neutralizing Antibodies Targeting the CD4 Supersite in 14 Donors.

Zhou T, Lynch RM, Chen L, Acharya P, Wu X, Doria-Rose NA, Joyce MG, Lingwood D, Soto C, Bailer RT, Ernandes MJ, Kong R, Longo NS, Louder MK, McKee K, O'Dell S, Schmidt SD, Tran L, Yang Z, Druz A, Luongo TS, Moquin S, Srivatsan S, Yang Y, Zhang B, Zheng A, Pancera M, Kirys T, Georgiev IS, Gindin T, Peng HP, Yang AS; NISC Comparative Sequencing Program, Mullikin JC, Gray MD, Stamatatos L, Burton DR, Koff WC, Cohen MS, Haynes BF, Casazza JP, Connors M, Corti D, Lanzavecchia A, Sattentau QJ, Weiss RA, West AP Jr, Bjorkman PJ, Scheid JF, Nussenzweig MC, Shapiro L, Mascola JR, Kwong PD.

Cell. 2015 Jun 4;161(6):1280-92. doi: 10.1016/j.cell.2015.05.007. Epub 2015 May 21.

PMID:
26004070
14.

The transcription factors Ets1 and Sox10 interact during murine melanocyte development.

Saldana-Caboverde A, Perera EM, Watkins-Chow DE, Hansen NF, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, Pavan WJ, Kos L.

Dev Biol. 2015 Nov 15;407(2):300-12. doi: 10.1016/j.ydbio.2015.04.012. Epub 2015 Apr 23.

PMID:
25912689
15.

Maturation and Diversity of the VRC01-Antibody Lineage over 15 Years of Chronic HIV-1 Infection.

Wu X, Zhang Z, Schramm CA, Joyce MG, Kwon YD, Zhou T, Sheng Z, Zhang B, O'Dell S, McKee K, Georgiev IS, Chuang GY, Longo NS, Lynch RM, Saunders KO, Soto C, Srivatsan S, Yang Y, Bailer RT, Louder MK; NISC Comparative Sequencing Program, Mullikin JC, Connors M, Kwong PD, Mascola JR, Shapiro L.

Cell. 2015 Apr 23;161(3):470-85. doi: 10.1016/j.cell.2015.03.004. Epub 2015 Apr 9.

PMID:
25865483
16.

DNA methylome and transcriptome sequencing in human ovarian granulosa cells links age-related changes in gene expression to gene body methylation and 3'-end GC density.

Yu B, Russanova VR, Gravina S, Hartley S, Mullikin JC, Ignezweski A, Graham J, Segars JH, DeCherney AH, Howard BH.

Oncotarget. 2015 Feb 28;6(6):3627-43.

17.

Genomic resources for the endangered Hawaiian honeycreepers.

Callicrate T, Dikow R, Thomas JW, Mullikin JC, Jarvis ED, Fleischer RC; NISC Comparative Sequencing Program.

BMC Genomics. 2014 Dec 12;15:1098. doi: 10.1186/1471-2164-15-1098.

18.

Mutational analysis of the tyrosine kinome in serous and clear cell endometrial cancer uncovers rare somatic mutations in TNK2 and DDR1.

Rudd ML, Mohamed H, Price JC, O'Hara AJ, Le Gallo M, Urick ME; NISC Comparative Sequencing Program, Cruz P, Zhang S, Hansen NF, Godwin AK, Sgroi DC, Wolfsberg TG, Mullikin JC, Merino MJ, Bell DW.

BMC Cancer. 2014 Nov 26;14:884. doi: 10.1186/1471-2407-14-884.

19.

The evolution of comparative genomics.

Mullikin JC.

Mol Genet Genomic Med. 2014 Sep;2(5):363-8. doi: 10.1002/mgg3.112. No abstract available.

20.

Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.

Pemov A, Sung H, Hyland PL, Sloan JL, Ruppert SL, Baldwin AM, Boland JF, Bass SE, Lee HJ, Jones KM, Zhang X; NISC Comparative Sequencing Program, Mullikin JC, Widemann BC, Wilson AF, Stewart DR.

PLoS Genet. 2014 Oct 16;10(10):e1004575. doi: 10.1371/journal.pgen.1004575. eCollection 2014 Oct.

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