Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 353

1.

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.

2.

Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience.

Williams MS, Buchanan AH, Davis FD, Faucett WA, Hallquist MLG, Leader JB, Martin CL, McCormick CZ, Meyer MN, Murray MF, Rahm AK, Schwartz MLB, Sturm AC, Wagner JK, Williams JL, Willard HF, Ledbetter DH.

Health Aff (Millwood). 2018 May;37(5):757-764. doi: 10.1377/hlthaff.2017.1557. Review.

PMID:
29733722
3.

Linear assembly of a human centromere on the Y chromosome.

Jain M, Olsen HE, Turner DJ, Stoddart D, Bulazel KV, Paten B, Haussler D, Willard HF, Akeson M, Miga KH.

Nat Biotechnol. 2018 Apr;36(4):321-323. doi: 10.1038/nbt.4109. Epub 2018 Mar 19.

4.

Expert consensus document: Mind the gaps—advancing research into short-term and long-term neuropsychological outcomes of youth sports-related concussions.

Carman AJ, Ferguson R, Cantu R, Comstock RD, Dacks PA, DeKosky ST, Gandy S, Gilbert J, Gilliland C, Gioia G, Giza C, Greicius M, Hainline B, Hayes RL, Hendrix J, Jordan B, Kovach J, Lane RF, Mannix R, Murray T, Seifert T, Shineman DW, Warren E, Wilde E, Willard H, Fillit HM.

Nat Rev Neurol. 2015 Apr;11(4):230-44. doi: 10.1038/nrneurol.2015.30. Epub 2015 Mar 17. Review.

PMID:
25776822
5.

Genomic characterization of large heterochromatic gaps in the human genome assembly.

Altemose N, Miga KH, Maggioni M, Willard HF.

PLoS Comput Biol. 2014 May 15;10(5):e1003628. doi: 10.1371/journal.pcbi.1003628. eCollection 2014 May.

6.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

7.

Impact of delivery models on understanding genomic risk for type 2 diabetes.

Haga SB, Barry WT, Mills R, Svetkey L, Suchindran S, Willard HF, Ginsburg GS.

Public Health Genomics. 2014;17(2):95-104. doi: 10.1159/000358413. Epub 2014 Feb 27.

8.

Centromere reference models for human chromosomes X and Y satellite arrays.

Miga KH, Newton Y, Jain M, Altemose N, Willard HF, Kent WJ.

Genome Res. 2014 Apr;24(4):697-707. doi: 10.1101/gr.159624.113. Epub 2014 Feb 5.

9.

Esperanto for histones: CENP-A, not CenH3, is the centromeric histone H3 variant.

Earnshaw WC, Allshire RC, Black BE, Bloom K, Brinkley BR, Brown W, Cheeseman IM, Choo KH, Copenhaver GP, Deluca JG, Desai A, Diekmann S, Erhardt S, Fitzgerald-Hayes M, Foltz D, Fukagawa T, Gassmann R, Gerlich DW, Glover DM, Gorbsky GJ, Harrison SC, Heun P, Hirota T, Jansen LE, Karpen G, Kops GJ, Lampson MA, Lens SM, Losada A, Luger K, Maiato H, Maddox PS, Margolis RL, Masumoto H, McAinsh AD, Mellone BG, Meraldi P, Musacchio A, Oegema K, O'Neill RJ, Salmon ED, Scott KC, Straight AF, Stukenberg PT, Sullivan BA, Sullivan KF, Sunkel CE, Swedlow JR, Walczak CE, Warburton PE, Westermann S, Willard HF, Wordeman L, Yanagida M, Yen TJ, Yoda K, Cleveland DW.

Chromosome Res. 2013 Apr;21(2):101-6. doi: 10.1007/s10577-013-9347-y. Epub 2013 Apr 12.

10.

Public knowledge of and attitudes toward genetics and genetic testing.

Haga SB, Barry WT, Mills R, Ginsburg GS, Svetkey L, Sullivan J, Willard HF.

Genet Test Mol Biomarkers. 2013 Apr;17(4):327-35. doi: 10.1089/gtmb.2012.0350. Epub 2013 Feb 13.

11.

Sequences associated with centromere competency in the human genome.

Hayden KE, Strome ED, Merrett SL, Lee HR, Rudd MK, Willard HF.

Mol Cell Biol. 2013 Feb;33(4):763-72. doi: 10.1128/MCB.01198-12. Epub 2012 Dec 10.

12.

Nonrandom X chromosome inactivation is influenced by multiple regions on the murine X chromosome.

Thorvaldsen JL, Krapp C, Willard HF, Bartolomei MS.

Genetics. 2012 Nov;192(3):1095-107. doi: 10.1534/genetics.112.144477. Epub 2012 Aug 10.

13.

Evidence for sequence biases associated with patterns of histone methylation.

Wang Z, Willard HF.

BMC Genomics. 2012 Aug 2;13:367. doi: 10.1186/1471-2164-13-367.

14.

Composition and organization of active centromere sequences in complex genomes.

Hayden KE, Willard HF.

BMC Genomics. 2012 Jul 20;13:324. doi: 10.1186/1471-2164-13-324.

15.

Effects of sequence variation on differential allelic transcription factor occupancy and gene expression.

Reddy TE, Gertz J, Pauli F, Kucera KS, Varley KE, Newberry KM, Marinov GK, Mortazavi A, Williams BA, Song L, Crawford GE, Wold B, Willard HF, Myers RM.

Genome Res. 2012 May;22(5):860-9. doi: 10.1101/gr.131201.111. Epub 2012 Feb 2.

16.

Uncoupling of genomic and epigenetic signals in the maintenance and inheritance of heterochromatin domains in fission yeast.

Wheeler BS, Ruderman BT, Willard HF, Scott KC.

Genetics. 2012 Feb;190(2):549-57. doi: 10.1534/genetics.111.137083. Epub 2011 Dec 5.

17.

Competencies: a cure for pre-med curriculum.

Anderson WA, Amasino RM, Ares M Jr, Banerjee U, Bartel B, Corces VG, Drennan CL, Elgin SC, Epstein IR, Fanning E, Guillette LJ Jr, Handelsman J, Hatfull GF, Hoy RR, Kelley D, Leinwand LA, Losick R, Lu Y, Lynn DG, Neuhauser C, O'Dowd DK, Olivera T, Pevzner P, Richards-Kortum RR, Rine J, Sah RL, Strobel SA, Walker GC, Walt DR, Warner IM, Wessler S, Willard HF, Zare RN.

Science. 2011 Nov 11;334(6057):760-1. doi: 10.1126/science.334.6057.760-b. No abstract available.

PMID:
22076362
18.

Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation.

Gertz J, Varley KE, Reddy TE, Bowling KM, Pauli F, Parker SL, Kucera KS, Willard HF, Myers RM.

PLoS Genet. 2011 Aug;7(8):e1002228. doi: 10.1371/journal.pgen.1002228. Epub 2011 Aug 11.

19.

Organization and molecular evolution of CENP-A--associated satellite DNA families in a basal primate genome.

Lee HR, Hayden KE, Willard HF.

Genome Biol Evol. 2011;3:1136-49. doi: 10.1093/gbe/evr083. Epub 2011 Aug 9.

20.

Allele-specific distribution of RNA polymerase II on female X chromosomes.

Kucera KS, Reddy TE, Pauli F, Gertz J, Logan JE, Myers RM, Willard HF.

Hum Mol Genet. 2011 Oct 15;20(20):3964-73. doi: 10.1093/hmg/ddr315. Epub 2011 Jul 26.

21.

Comparative analysis of the primate X-inactivation center region and reconstruction of the ancestral primate XIST locus.

Horvath JE, Sheedy CB, Merrett SL, Diallo AB, Swofford DL, NISC Comparative Sequencing Program, Green ED, Willard HF.

Genome Res. 2011 Jun;21(6):850-62. doi: 10.1101/gr.111849.110. Epub 2011 Apr 25.

22.

Considerations for the impact of personal genome information: a study of genomic profiling among genetics and genomics professionals.

O'Daniel JM, Haga SB, Willard HF.

J Genet Couns. 2010 Aug;19(4):387-401. doi: 10.1007/s10897-010-9297-x. Epub 2010 Mar 30.

PMID:
20352309
23.

Heritable individual-specific and allele-specific chromatin signatures in humans.

McDaniell R, Lee BK, Song L, Liu Z, Boyle AP, Erdos MR, Scott LJ, Morken MA, Kucera KS, Battenhouse A, Keefe D, Collins FS, Willard HF, Lieb JD, Furey TS, Crawford GE, Iyer VR, Birney E.

Science. 2010 Apr 9;328(5975):235-9. doi: 10.1126/science.1184655. Epub 2010 Mar 18.

24.

Genomic and personalized medicine: foundations and applications.

Ginsburg GS, Willard HF.

Transl Res. 2009 Dec;154(6):277-87. doi: 10.1016/j.trsl.2009.09.005. Epub 2009 Oct 1. Review.

PMID:
19931193
25.

The impact of local genome sequence on defining heterochromatin domains.

Wheeler BS, Blau JA, Willard HF, Scott KC.

PLoS Genet. 2009 Apr;5(4):e1000453. doi: 10.1371/journal.pgen.1000453. Epub 2009 Apr 10.

26.

A national clinical decision support infrastructure to enable the widespread and consistent practice of genomic and personalized medicine.

Kawamoto K, Lobach DF, Willard HF, Ginsburg GS.

BMC Med Inform Decis Mak. 2009 Mar 23;9:17. doi: 10.1186/1472-6947-9-17.

27.

A letter response to Chaufan's "how much can a large population study on genes, environments, their interactions and common diseases contribute to the health of the American people?" (65:8, 2007, 1730-1741).

Tuckson RV, Willard HF.

Soc Sci Med. 2008 Aug;67(4):673-4; author reply 675-83. doi: 10.1016/j.socscimed.2008.04.011. Epub 2008 Jun 4. No abstract available.

PMID:
18534733
28.

Letting the genome out of the bottle.

Haga SB, Willard HF.

N Engl J Med. 2008 May 15;358(20):2184; author reply 2185. doi: 10.1056/NEJMc086053. No abstract available.

PMID:
18480218
29.

Human artificial chromosome assembly by transposon-based retrofitting of genomic BACs with synthetic alpha-satellite arrays.

Basu J, Willard HF, Stromberg G.

Curr Protoc Hum Genet. 2007 Jan;Chapter 5:Unit 5.18. doi: 10.1002/0471142905.hg0518s52.

PMID:
18428412
30.

Development and application of a phylogenomic toolkit: resolving the evolutionary history of Madagascar's lemurs.

Horvath JE, Weisrock DW, Embry SL, Fiorentino I, Balhoff JP, Kappeler P, Wray GA, Willard HF, Yoder AD.

Genome Res. 2008 Mar;18(3):489-99. doi: 10.1101/gr.7265208. Epub 2008 Feb 1.

31.

An RNA polymerase III-dependent heterochromatin barrier at fission yeast centromere 1.

Scott KC, White CV, Willard HF.

PLoS One. 2007 Oct 31;2(10):e1099.

32.

Primate comparative genomics: lemur biology and evolution.

Horvath JE, Willard HF.

Trends Genet. 2007 Apr;23(4):173-82. Epub 2007 Feb 27. Review.

PMID:
17331617
33.

Defining the spectrum of genome policy.

Haga SB, Willard HF.

Nat Rev Genet. 2006 Dec;7(12):966-72. Review.

PMID:
17139328
34.

Human genomics: in search of normality.

Shianna KV, Willard HF.

Nature. 2006 Nov 23;444(7118):428-9. No abstract available.

PMID:
17122840
35.

Human artificial chromosomes: potential applications and clinical considerations.

Basu J, Willard HF.

Pediatr Clin North Am. 2006 Oct;53(5):843-53, viii. Review.

PMID:
17027613
36.

Evidence of influence of genomic DNA sequence on human X chromosome inactivation.

Wang Z, Willard HF, Mukherjee S, Furey TS.

PLoS Comput Biol. 2006 Sep 1;2(9):e113. Epub 2006 Jul 17.

37.

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.

Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz CE, Longshore J, Willard HF.

Am J Hum Genet. 2006 Sep;79(3):493-9. Epub 2006 Jul 27.

38.

Chromosome-wide, allele-specific analysis of the histone code on the human X chromosome.

Valley CM, Pertz LM, Balakumaran BS, Willard HF.

Hum Mol Genet. 2006 Aug 1;15(15):2335-47. Epub 2006 Jun 20.

PMID:
16787966
39.

Genomic and epigenomic approaches to the study of X chromosome inactivation.

Valley CM, Willard HF.

Curr Opin Genet Dev. 2006 Jun;16(3):240-5. Epub 2006 May 2. Review.

PMID:
16647845
40.

Genetic control of X chromosome inactivation in mice: definition of the Xce candidate interval.

Chadwick LH, Pertz LM, Broman KW, Bartolomei MS, Willard HF.

Genetics. 2006 Aug;173(4):2103-10. Epub 2006 Apr 2.

41.

A heterochromatin barrier partitions the fission yeast centromere into discrete chromatin domains.

Scott KC, Merrett SL, Willard HF.

Curr Biol. 2006 Jan 24;16(2):119-29.

42.

The evolutionary dynamics of alpha-satellite.

Rudd MK, Wray GA, Willard HF.

Genome Res. 2006 Jan;16(1):88-96. Epub 2005 Dec 12.

43.

Engineered human dicentric chromosomes show centromere plasticity.

Higgins AW, Gustashaw KM, Willard HF.

Chromosome Res. 2005;13(8):745-62. Epub 2005 Dec 8.

PMID:
16331407
44.

Genetic and parent-of-origin influences on X chromosome choice in Xce heterozygous mice.

Chadwick LH, Willard HF.

Mamm Genome. 2005 Sep;16(9):691-9. Epub 2005 Oct 20.

PMID:
16245026
45.

Genomic medicine: genetic variation and its impact on the future of health care.

Willard HF, Angrist M, Ginsburg GS.

Philos Trans R Soc Lond B Biol Sci. 2005 Aug 29;360(1460):1543-50. Review.

46.

Progressive proximal expansion of the primate X chromosome centromere.

Schueler MG, Dunn JM, Bird CP, Ross MT, Viggiano L; NISC Comparative Sequencing Program, Rocchi M, Willard HF, Green ED.

Proc Natl Acad Sci U S A. 2005 Jul 26;102(30):10563-8. Epub 2005 Jul 19.

47.

Efficient assembly of de novo human artificial chromosomes from large genomic loci.

Basu J, Compitello G, Stromberg G, Willard HF, Van Bokkelen G.

BMC Biotechnol. 2005 Jul 5;5:21.

48.

Artificial and engineered chromosomes: non-integrating vectors for gene therapy.

Basu J, Willard HF.

Trends Mol Med. 2005 May;11(5):251-8. Review.

PMID:
15882613
49.

X-inactivation profile reveals extensive variability in X-linked gene expression in females.

Carrel L, Willard HF.

Nature. 2005 Mar 17;434(7031):400-4.

PMID:
15772666
50.

The DNA sequence of the human X chromosome.

Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glöckner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Müller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR.

Nature. 2005 Mar 17;434(7031):325-37.

Supplemental Content

Loading ...
Support Center