C9ORF72 expansion in a family with bipolar disorder.Meisler MH, Grant AE, Jones JM, Lenk GM, He F, Todd PK, Kamali M, Albin RL, Lieberman AP, Langenecker SA, McInnis MG.Bipolar Disord. 2013 May;15(3):326-32.
Featured Publications
Type I to type II ovarian carcinoma progression: mutant Trp53 or Pik3ca confers a more aggressive tumor phenotype in a mouse model of ovarian cancer.Wu R, Baker SJ, Hu TC, Norman KM, Fearon ER, Cho KR.Am J Pathol. 2013 Apr;182(4):1391-9.
To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations.Wallen RC, Antonellis A.Curr Opin Genet Dev. 2013 Mar 2. pii: S0959-437X(13)00020-8. doi: 10.1016/j.gde.2013.02.002. [Epub ahead of print]
Identification of small RNA pathway genes using patterns of phylogenetic conservation and divergence.Tabach Y, Billi AC, Hayes GD, Newman MA, Zuk O, Gabel H, Kamath R, Yacoby K, Chapman B, Garcia SM, Borowsky M, Kim JK, Ruvkun G.Nature. 2013 Jan 31;493(7434):694-8.
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ.Brain. 2013 Feb;136(Pt 2):508-21.
Next-Generation Sequencing Identifies the Danforth's Short Tail Mouse Mutation as a Retrotransposon Insertion Affecting Ptf1a Expression.Vlangos CN, Siuniak AN, Robinson D, Chinnaiyan AM, Lyons RH Jr, Cavalcoli JD, Keegan CE.PLoS Genet. 2013 Feb;9(2):e1003205.
Breaking news on fragile sites in cancer.Glover TW, Wilson TE.Breaking news on fragile sites in cancer. Cancer Cell. 2013 Feb 11;23(2):137-9.
A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo.Vester A, Velez-Ruiz G, McLaughlin HM, Nisc Comparative Sequencing Program, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A.Hum Mutat. 2013 Jan;34(1):191-9.
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.Desch KC, Ozel AB, Siemieniak D, Kalish Y, Shavit JA, Thornburg CD, Sharathkumar AA, McHugh CP, Laurie CC, Crenshaw A, Mirel DB, Kim Y, Cropp CD, Molloy AM, Kirke PN, Bailey-Wilson JE, Wilson AF, Mills JL, Scott JM, Brody LC, Li JZ, Ginsburg D.Proc Natl Acad Sci U S A. 2013 Jan 8;110(2):588-93.
Coordinated regulation of synthesis and stability of RNA during the acute TNF-induced proinflammatory response.Paulsen MT, Veloso A, Prasad J, Bedi K, Ljungman EA, Tsan YC, Chang CW, Tarrier B, Washburn JG, Lyons R, Robinson DR, Kumar-Sinha C, Wilson TE, Ljungman M.Proc Natl Acad Sci U S A. 2013 Jan 23. [Epub ahead of print].