Professor Department of Human Genetics University of Chicago
On leave through 12.31.17
Our research has focused on the nature of complex genome organization and its impact on gene expression and genome biology, relying extensively on genetic material and samples from human patients and model organisms and employing a range of cytological, molecular, genomic and computational approaches. Over the past three decades, we have been engaged in projects exploring complex genome sequences, their evolution, their packaging in various types of chromatin, and their effects on diverse phenomena such as centromere identity and function, dosage compensation, and gene silencing, in genomes ranging from human to other primates and mammals to yeast.
Genetics in Medicine, Eighth Edition. Nussbaum RL, McInnes RR, Willard HF.(2015). Philadelphia: WB Saunders Co.
Genomic characterization of large heterochromatic gaps in the human genome assembly. Altemose N, Miga KH, Maggioni M, Willard HF (2014 May) PLoS Comput Biol. 2014 May 15;10(5):e1003628. doi: 10.1371/journal.pcbi.1003628. eCollection 2014 May. 24831296 (Full Text)
Centromere reference models for human chromosomes X and Y satellite arrays. Miga KH, Newton Y, Jain M, Altemose N, Willard HF, Kent WJ (2014 Apr) Genome Res. 2014 Apr;24(4):697-707. doi: 10.1101/gr.159624.113. Epub 2014 Feb 5.24501022 (Full Text)
Sequences associated with centromere competency in the human genome. Hayden KE, Strome ED, Merrett SL, Lee HR, Rudd MK, Willard HF (2013 Feb) Mol Cell Biol. 2013 Feb;33(4):763-72. doi: 10.1128/MCB.01198-12. Epub 2012 Dec 10.23230266 (Full Text)
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 (2012 May) Genome Res. 2012 May;22(5):860-9. doi: 10.1101/gr.131201.111. Epub 2012 Feb 2.22300769 (Full Text)
Genomic and Personalized Medicine, 2nd edition (2 vols). Ginsburg G, Willard HF (eds) (2012) New York: Elsevier, 1305 pp.
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 (2011 Oct) Hum Mol Genet. 2011 Oct 15;20(20):3964-73. doi: 10.1093/hmg/ddr315. Epub 2011 Jul 26.21791549 (Full Text)
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 (2011 Jun) Genome Res. 2011 Jun;21(6):850-62. doi: 10.1101/gr.111849.110. Epub 2011 Apr 25.21518738 (Full Text)
Allan Award Address - Life in the Sandbox: unfinished business. Willard HF.(2010) Am. J. Hum. Genet. 86: 318-327.
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 (2006 Sep) Am J Hum Genet. 2006 Sep;79(3):493-9. Epub 2006 Jul 27. 16909387 (Full Text)
X-inactivation profile reveals extensive variability in X-linked gene expression in females. Carrel L, Willard HF (2005 Mar) Nature. 2005 Mar 17;434(7031):400-4. 15772666
Analysis of the centromeric regions of the human genome assembly. Rudd MK, Willard HF (2004 Nov) Trends Genet. 2004 Nov;20(11):529-33. 15475110
Autosomal dominant mutations affecting X inactivation choice in the mouse. Percec I, Plenge RM, Nadeau JH, Bartolomei MS, Willard HF (2002 May) Science. 2002 May 10;296(5570):1136-9. 12004136
Genomic and genetic definition of a functional human centromere. Schueler MG, Higgins AW, Rudd MK, Gustashaw K, Willard HF (2001 Oct) Science. 2001 Oct 5;294(5540):109-15. 11588252
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Plenge RM, Hendrich BD, Schwartz C, Arena JF, Naumova A, Sapienza C, Winter RM, Willard HF (1997 Nov) Nat Genet. 1997 Nov;17(3):353-6. 9354806
Localization of the X inactivation centre on the human X chromosome in Xq13. Brown CJ, Lafreniere RG, Powers VE, Sebastio G, Ballabio A, Pettigrew AL, Ledbetter DH, Levy E, Craig IW, Willard HF (1991 Jan) Nature. 1991 Jan 3;349(6304):82-4. 1985270
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF (1991 Jan) Nature. 1991 Jan 3;349(6304):38-44. 1985261