2011 Publications

  1. Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG. (2011) The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet. 88: 523-535.
  2. Barak T, Kwan KY, Louvi A, Demirbilek V, Saygı S, Tüysüz B, Choi M, Boyacı H, Doerschner K, Zhu Y, Kaymakçalan H, Yılmaz S, Bakırcıoğlu M, Cağlayan AO, Oztürk AK, Yasuno K, Brunken WJ, Atalar E, Yalçınkaya C, Dinçer A, Bronen RA, Mane S, Ozçelik T, Lifton RP, Sestan N, Bilgüvar K, Günel M. (2011) Recessive LAMC3 mutations cause malformations of occipital cortical development. Nat. Genet. 43: 590-594.
  3. Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, Westin G, Åkerström G, Wang W, Carling T, Lifton RP. (2011) K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science. 331: 768-772.
  4. Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M. (2011) Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci U S A. 108: 2915-2920.
  5. Gaiteri C, Sibille E. (2011) Differentially expressed genes in major depression reside on the periphery of resilient gene coexpression networks. Front Neurosci. 5: 95.
  6. Gharavi AG, Kiryluk K, Choi M, Li Y, Hou P, Xie J, Sanna-Cherchi S, Men CJ, Julian BA, Wyatt RJ, Novak J, He JC, Wang H, Lv J, Zhu L, Wang W, Wang Z, Yasuno K, Gunel M, Mane S, Umlauf S, Tikhonova I, Beerman I, Savoldi S, Magistroni R, Ghiggeri GM, Bodria M, Lugani F, Ravani P, Ponticelli C, Allegri L, Boscutti G, Frasca G, Amore A, Peruzzi L, Coppo R, Izzi C, Viola BF, Prati E, Salvadori M, Mignani R, Gesualdo L, Bertinetto F, Mesiano P, Amoroso A, Scolari F, Chen N, Zhang H, Lifton RP. (2011) Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet. 43: 321-327.
  7. Guilloux JP, Douillard-Guilloux G, Kota R, Wang X, Gardier AM, Martinowich K, Tseng GC, Lewis DA, Sibille E. (2011) Molecular evidence for BDNF- and GABA-related dysfunctions in the amygdala of female subjects with major depression. Mol. Psychiatry. doi: 10.1038/mp.2011.113.
  8. Gulhan Ercan-Sencicek A, Davis Wright NR, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Einar Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL. (2011) Searching for Potocki-Lupski syndrome phenotype: A patient with language impairment and no autism. Brain Dev. 2011 Dec 15.
  9. Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T. (2011) Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Res. 21: 1995-2003.
  10. Harris RA, Osterndorff-Kahanek E, Ponomarev I, Homanics GE, Blednov YA. (2011) Testing the silence of mutations: Transcriptomic and behavioral studies of GABA(A) receptor α1 and α2 subunit knock-in mice. Neurosci Lett. 488: 31-35.
  11. Isern J, He Z, Fraser ST, Nowotschin S, Ferrer-Vaquer A, Moore R, Hadjantonakis AK, Schulz V, Tuck D, Gallagher PG, Baron MH. (2011) Single-lineage transcriptome analysis reveals key regulatory pathways in primitive erythroid progenitors in the mouse embryo. Blood. 117: 4924-4934.
  12. Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, Sousa AM, Pletikos M, Meyer KA, Sedmak G, Guennel T, Shin Y, Johnson MB, Krsnik Z, Mayer S, Fertuzinhos S, Umlauf S, Lisgo SN, Vortmeyer A, Weinberger DR, Mane S, Hyde TM, Huttner A, Reimers M, Kleinman JE, Sestan N. (2011) Spatio-temporal transcriptome of the human brain. Nature. 478: 483-489.
  13. Keramati AR, Singh R, Lin A, Faramarzi S, Ye ZJ, Mane S, Tellides G, Lifton RP, Mani A. (2011) Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6R611C increases PDGF-dependent vascular smooth muscle cell proliferation. Proc. Natl. Acad. Sci. U.S.A. 108: 1914-1918.
  14. Li A, Liu Z, Lezon-Geyda K, Sarkar S, Lannin D, Schulz V, Krop I, Winer E, Harris L, Tuck D. (2011) GPHMM: an integrated hidden Markov model for identification of copy number alteration and loss of heterozygosity in complex tumor samples using whole genome SNP arrays. Nucleic Acids Res. 39: 4928-4941.
  15. Lin LC, Lewis DA, Sibille E. (2011) A human-mouse conserved sex bias in amygdala gene expression related to circadian clock and energy metabolism. Mol. Brain. 4: 18.
  16. Marshall HD, Chandele A, Jung YW, Meng H, Poholek AC, Parish IA, Rustishauser R, Cui W, Kleinstein SH, Craft J and Kaech SM. (2011) Differential Expression of Ly6C and T-bet Distinguish Effector and Memory Th1 CD4(+) Cell Properties during Viral Infection. Immunity 35: 633-646.
  17. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-885.
  18. Starker LF, Svedlund J, Udelsman R, Dralle H, Akerström G, Westin G, Lifton RP, Björklund P, Carling T. (2011) The DNA methylome of benign and malignant parathyroid tumors. Genes Chromosomes Cancer. 50: 735-745.
  19. Steiner LA, Schulz VP, Maksimova Y, Wong C, Gallagher PG. (2011) Patterns of histone H3 lysine 27 monomethylation and erythroid cell type-specific gene expression. J. Biol. Chem. 286: 39457-39465.
  20. Wilson KA, Colavito SA, Schulz V, Wakefield PH, Sessa W, Tuck D, Stern DF. (2011) NFBD1/MDC1 regulates Cav1 and Cav2 independently of DNA damage and p53. Mol. Cancer Res. 9: 766-781.
  21. Yasuno K, Bakircioglu M, Low SK, Bilgüvar K, Gaál E, Ruigrok YM, Niemelä M, Hata A, Bijlenga P, Kasuya H, Jääskeläinen JE, Krex D, Auburger G, Simon M, Krischek B, Ozturk AK, Mane S, Rinkel GJ, Steinmetz H, Hernesniemi J, Schaller K, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. (2011) Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk. Proc. Natl. Acad. Sci. U.S.A. 108: 19707-19712.