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Results: 1 to 20 of 58

1.

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004.

PMID:
25957469
2.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12.

PMID:
25683120
3.

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel.

Delaneau O, Marchini J; 1000 Genomes Project Consortium; 1000 Genomes Project Consortium.

Nat Commun. 2014 Jun 13;5:3934. doi: 10.1038/ncomms4934.

4.

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.

Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P, Pybus M, Garrison E, Xue Y, Tyler-Smith C; 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA.

Genome Biol. 2014 Jun 30;15(6):R88. doi: 10.1186/gb-2014-15-6-r88.

5.

Genome-wide haplotypic testing in a Finnish cohort identifies a novel association with low-density lipoprotein cholesterol.

Zhang QS, Browning BL, Browning SR.

Eur J Hum Genet. 2015 May;23(5):672-7. doi: 10.1038/ejhg.2014.105. Epub 2014 Jun 4.

PMID:
24896150
6.

Efficient clustering of identity-by-descent between multiple individuals.

Qian Y, Browning BL, Browning SR.

Bioinformatics. 2014 Apr 1;30(7):915-22. doi: 10.1093/bioinformatics/btt734. Epub 2013 Dec 19.

7.

Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes.

Shirts BH, Jacobson A, Jarvik GP, Browning BL.

Genet Med. 2014 Jul;16(7):529-34. doi: 10.1038/gim.2013.187. Epub 2013 Dec 19.

8.

Detecting identity by descent and estimating genotype error rates in sequence data.

Browning BL, Browning SR.

Am J Hum Genet. 2013 Nov 7;93(5):840-51. doi: 10.1016/j.ajhg.2013.09.014. Epub 2013 Oct 24.

9.

Integrative annotation of variants from 1092 humans: application to cancer genomics.

Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüs ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GR, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F; 1000 Genomes Project Consortium, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M.

Science. 2013 Oct 4;342(6154):1235587. doi: 10.1126/science.1235587.

10.

Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.

Kim JH, Jarvik GP, Browning BL, Rajagopalan R, Gordon AS, Rieder MJ, Robertson PD, Nickerson DA, Fisher NA, Hopkins PM.

Anesthesiology. 2013 Nov;119(5):1054-65. doi: 10.1097/ALN.0b013e3182a8a998.

11.

Additive genetic variation in schizophrenia risk is shared by populations of African and European descent.

de Candia TR, Lee SH, Yang J, Browning BL, Gejman PV, Levinson DF, Mowry BJ, Hewitt JK, Goddard ME, O'Donovan MC, Purcell SM, Posthuma D; International Schizophrenia Consortium; Molecular Genetics of Schizophrenia Collaboration, Visscher PM, Wray NR, Keller MC.

Am J Hum Genet. 2013 Sep 5;93(3):463-70. doi: 10.1016/j.ajhg.2013.07.007. Epub 2013 Aug 15.

12.

Improving the accuracy and efficiency of identity-by-descent detection in population data.

Browning BL, Browning SR.

Genetics. 2013 Jun;194(2):459-71. doi: 10.1534/genetics.113.150029. Epub 2013 Mar 27.

13.

Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.

Wu JH, Lemaitre RN, Manichaikul A, Guan W, Tanaka T, Foy M, Kabagambe EK, Djousse L, Siscovick D, Fretts AM, Johnson C, King IB, Psaty BM, McKnight B, Rich SS, Chen YD, Nettleton JA, Tang W, Bandinelli S, Jacobs DR Jr, Browning BL, Laurie CC, Gu X, Tsai MY, Steffen LM, Ferrucci L, Fornage M, Mozaffarian D.

Circ Cardiovasc Genet. 2013 Apr;6(2):171-83. doi: 10.1161/CIRCGENETICS.112.964619. Epub 2013 Jan 29.

14.

An integrated map of genetic variation from 1,092 human genomes.

1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA.

Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632.

15.

Identity-by-descent-based heritability analysis in the Northern Finland Birth Cohort.

Browning SR, Browning BL.

Hum Genet. 2013 Feb;132(2):129-38. doi: 10.1007/s00439-012-1230-y. Epub 2012 Sep 29. Erratum in: Hum Genet. 2013 Aug;132(8):957-8.

16.

Identity by descent between distant relatives: detection and applications.

Browning SR, Browning BL.

Annu Rev Genet. 2012;46:617-33. doi: 10.1146/annurev-genet-110711-155534. Epub 2012 Sep 17. Review.

PMID:
22994355
17.

The 1000 Genomes Project: data management and community access.

Clarke L, Zheng-Bradley X, Smith R, Kulesha E, Xiao C, Toneva I, Vaughan B, Preuss D, Leinonen R, Shumway M, Sherry S, Flicek P; 1000 Genomes Project Consortium.

Nat Methods. 2012 Apr 27;9(5):459-62. doi: 10.1038/nmeth.1974.

18.

Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

Patsopoulos NA; Bayer Pharma MS Genetics Working Group; Steering Committees of Studies Evaluating IFNβ-1b and a CCR1-Antagonist; ANZgene Consortium; GeneMSA; International Multiple Sclerosis Genetics Consortium, Esposito F, Reischl J, Lehr S, Bauer D, Heubach J, Sandbrink R, Pohl C, Edan G, Kappos L, Miller D, Montalbán J, Polman CH, Freedman MS, Hartung HP, Arnason BG, Comi G, Cook S, Filippi M, Goodin DS, Jeffery D, O'Connor P, Ebers GC, Langdon D, Reder AT, Traboulsee A, Zipp F, Schimrigk S, Hillert J, Bahlo M, Booth DR, Broadley S, Brown MA, Browning BL, Browning SR, Butzkueven H, Carroll WM, Chapman C, Foote SJ, Griffiths L, Kermode AG, Kilpatrick TJ, Lechner-Scott J, Marriott M, Mason D, Moscato P, Heard RN, Pender MP, Perreau VM, Perera D, Rubio JP, Scott RJ, Slee M, Stankovich J, Stewart GJ, Taylor BV, Tubridy N, Willoughby E, Wiley J, Matthews P, Boneschi FM, Compston A, Haines J, Hauser SL, McCauley J, Ivinson A, Oksenberg JR, Pericak-Vance M, Sawcer SJ, De Jager PL, Hafler DA, de Bakker PI.

Ann Neurol. 2011 Dec;70(6):897-912. doi: 10.1002/ana.22609. Erratum in: Ann Neurol. 2013 Apr;73(4):561.

19.

Performance of genotype imputation for rare variants identified in exons and flanking regions of genes.

Li L, Li Y, Browning SR, Browning BL, Slater AJ, Kong X, Aponte JL, Mooser VE, Chissoe SL, Whittaker JC, Nelson MR, Ehm MG.

PLoS One. 2011;6(9):e24945. doi: 10.1371/journal.pone.0024945. Epub 2011 Sep 19.

20.

Haplotype phasing: existing methods and new developments.

Browning SR, Browning BL.

Nat Rev Genet. 2011 Sep 16;12(10):703-14. doi: 10.1038/nrg3054. Review.

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