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Results: 1 to 20 of 53

1.

Temporoparietal fascial flap repair of middle cranial fossa tegmen and dural defects.

Kircher M, Pittman A, Thorpe E, Marzo S, Leonetti J, Tsimpas A, Anderson D.

Laryngoscope. 2015 May 6. doi: 10.1002/lary.25331. [Epub ahead of print] No abstract available.

PMID:
25945717
2.

Exome sequencing reveal pathogenic mutations in 91 strains of mice with Mendelian disorders.

Fairfield H, Srivastava A, Ananda G, Liu R, Kircher M, Lakshminarayana A, Harris B, Karst SY, Dionne LA, Kane CC, Curtain M, Berry ML, Ward-Bailey PF, Greenstein I, Byers C, Czechanski A, Sharp J, Palmer K, Gudis P, Martin W, Tadenev A, Bogdanik L, Pratt CH, Chang B, Schroeder DG, Cox GA, Cliften P, Milbrandt J, Murray S, Burgess R, Bergstrom DE, Donahue LR, Hamamy H, Masri A, Santoni FA, Makrythanasis P, Antonarakis SE, Shendure J, Reinholdt LG.

Genome Res. 2015 Apr 27. pii: gr.186882.114. [Epub ahead of print]

PMID:
25917818
3.

Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

Garg A, Kircher M, Del Campo M, Amato RS, Agarwal AK; University of Washington Center for Mendelian Genomics.

Am J Med Genet A. 2015 Apr 21. doi: 10.1002/ajmg.a.37115. [Epub ahead of print]

PMID:
25898808
4.

Evaluating intra- and inter-individual variation in the human placental transcriptome.

Hughes DA, Kircher M, He Z, Guo S, Fairbrother GL, Moreno CS, Khaitovich P, Stoneking M.

Genome Biol. 2015 Mar 19;16:54. doi: 10.1186/s13059-015-0627-z.

5.

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

Sawyer SL, Tian L, Kähkönen M, Schwartzentruber J, Kircher M; University of Washington Centre for Mendelian Genomics; FORGE Canada Consortium, Majewski J, Dyment DA, Innes AM, Boycott KM, Moreau LA, Moilanen JS, Greenberg RA.

Cancer Discov. 2015 Feb;5(2):135-42. doi: 10.1158/2159-8290.CD-14-1156. Epub 2014 Dec 3.

PMID:
25472942
6.

Somatic mutations in cerebral cortical malformations.

Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA.

N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432.

7.

Patterns of coding variation in the complete exomes of three Neandertals.

Castellano S, Parra G, Sánchez-Quinto FA, Racimo F, Kuhlwilm M, Kircher M, Sawyer S, Fu Q, Heinze A, Nickel B, Dabney J, Siebauer M, White L, Burbano HA, Renaud G, Stenzel U, Lalueza-Fox C, de la Rasilla M, Rosas A, Rudan P, Brajković D, Kucan Ž, Gušic I, Shunkov MV, Derevianko AP, Viola B, Meyer M, Kelso J, Andrés AM, Pääbo S.

Proc Natl Acad Sci U S A. 2014 May 6;111(18):6666-71. doi: 10.1073/pnas.1405138111. Epub 2014 Apr 21.

8.

Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX.

Schubert M, Ermini L, Der Sarkissian C, Jónsson H, Ginolhac A, Schaefer R, Martin MD, Fernández R, Kircher M, McCue M, Willerslev E, Orlando L.

Nat Protoc. 2014 May;9(5):1056-82. doi: 10.1038/nprot.2014.063. Epub 2014 Apr 10.

PMID:
24722405
9.

Primate iPS cells as tools for evolutionary analyses.

Wunderlich S, Kircher M, Vieth B, Haase A, Merkert S, Beier J, Göhring G, Glage S, Schambach A, Curnow EC, Pääbo S, Martin U, Enard W.

Stem Cell Res. 2014 May;12(3):622-9. doi: 10.1016/j.scr.2014.02.001. Epub 2014 Feb 8.

10.

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.

Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA.

Am J Respir Crit Care Med. 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC.

11.

Residuals originating from the agri- and silvicultural, industrial, transport and municipal sectors.

Kircher M.

N Biotechnol. 2015 Jan 25;32(1):97-9. doi: 10.1016/j.nbt.2014.02.003. Epub 2014 Feb 15. No abstract available.

PMID:
24548991
12.

A general framework for estimating the relative pathogenicity of human genetic variants.

Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J.

Nat Genet. 2014 Mar;46(3):310-5. doi: 10.1038/ng.2892. Epub 2014 Feb 2.

13.

The earliest transcribed zygotic genes are short, newly evolved, and different across species.

Heyn P, Kircher M, Dahl A, Kelso J, Tomancak P, Kalinka AT, Neugebauer KM.

Cell Rep. 2014 Jan 30;6(2):285-92. doi: 10.1016/j.celrep.2013.12.030. Epub 2014 Jan 16.

14.

The complete genome sequence of a Neanderthal from the Altai Mountains.

Prüfer K, Racimo F, Patterson N, Jay F, Sankararaman S, Sawyer S, Heinze A, Renaud G, Sudmant PH, de Filippo C, Li H, Mallick S, Dannemann M, Fu Q, Kircher M, Kuhlwilm M, Lachmann M, Meyer M, Ongyerth M, Siebauer M, Theunert C, Tandon A, Moorjani P, Pickrell J, Mullikin JC, Vohr SH, Green RE, Hellmann I, Johnson PL, Blanche H, Cann H, Kitzman JO, Shendure J, Eichler EE, Lein ES, Bakken TE, Golovanova LV, Doronichev VB, Shunkov MV, Derevianko AP, Viola B, Slatkin M, Reich D, Kelso J, Pääbo S.

Nature. 2014 Jan 2;505(7481):43-9. doi: 10.1038/nature12886. Epub 2013 Dec 18.

15.

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.

Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH.

Hum Mol Genet. 2014 Mar 15;23(6):1602-5. doi: 10.1093/hmg/ddt550. Epub 2013 Nov 11.

16.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH.

Am J Hum Genet. 2013 Apr 4;92(4):632-6. doi: 10.1016/j.ajhg.2013.03.012.

17.

freeIbis: an efficient basecaller with calibrated quality scores for Illumina sequencers.

Renaud G, Kircher M, Stenzel U, Kelso J.

Bioinformatics. 2013 May 1;29(9):1208-9. doi: 10.1093/bioinformatics/btt117. Epub 2013 Mar 6.

18.

Comparative population genomics of the ejaculate in humans and the great apes.

Good JM, Wiebe V, Albert FW, Burbano HA, Kircher M, Green RE, Halbwax M, André C, Atencia R, Fischer A, Pääbo S.

Mol Biol Evol. 2013 Apr;30(4):964-76. doi: 10.1093/molbev/mst005. Epub 2013 Jan 16.

19.

Ask the experts: the challenges and benefits of flow chemistry to optimize drug development.

Anderson N, Gernaey KV, Jamison TF, Kircher M, Wiles C, Leadbeater NE, Sandford G, Richardson P.

Future Med Chem. 2012 Sep;4(14):1779-89. doi: 10.4155/fmc.12.106.

PMID:
23043475
20.

A high-coverage genome sequence from an archaic Denisovan individual.

Meyer M, Kircher M, Gansauge MT, Li H, Racimo F, Mallick S, Schraiber JG, Jay F, Prüfer K, de Filippo C, Sudmant PH, Alkan C, Fu Q, Do R, Rohland N, Tandon A, Siebauer M, Green RE, Bryc K, Briggs AW, Stenzel U, Dabney J, Shendure J, Kitzman J, Hammer MF, Shunkov MV, Derevianko AP, Patterson N, Andrés AM, Eichler EE, Slatkin M, Reich D, Kelso J, Pääbo S.

Science. 2012 Oct 12;338(6104):222-6. doi: 10.1126/science.1224344. Epub 2012 Aug 30.

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