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Spatio-temporal transcriptome of the human brain.
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. Kang HJ, et al. Among authors: mane s. Nature. 2011 Oct 26;478(7370):483-9. doi: 10.1038/nature10523. Nature. 2011. PMID: 22031440 Free PMC article.
Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity.
Hirunsatit R, George ED, Lipska BK, Elwafi HM, Sander L, Yrigollen CM, Gelernter J, Grigorenko EL, Lappalainen J, Mane S, Nairn AC, Kleinman JE, Simen AA. Hirunsatit R, et al. Among authors: mane s. Pharmacogenet Genomics. 2009 Jan;19(1):53-65. doi: 10.1097/FPC.0b013e328318b21a. Pharmacogenet Genomics. 2009. PMID: 19077666 Free PMC article.
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoğlu D, Tüysüz B, Cağlayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçinkaya C, Kumandaş S, Topçu M, Ozmen M, Sestan N, Lifton RP, State MW, Günel M. Bilgüvar K, et al. Among authors: mane s. Nature. 2010 Sep 9;467(7312):207-10. doi: 10.1038/nature09327. Epub 2010 Aug 22. Nature. 2010. PMID: 20729831 Free PMC article.
Increased peripheral blood expression of electron transport chain genes in bipolar depression.
Beech RD, Lowthert L, Leffert JJ, Mason PN, Taylor MM, Umlauf S, Lin A, Lee JY, Maloney K, Muralidharan A, Lorberg B, Zhao H, Newton SS, Mane S, Epperson CN, Sinha R, Blumberg H, Bhagwagar Z. Beech RD, et al. Among authors: mane s. Bipolar Disord. 2010 Dec;12(8):813-24. doi: 10.1111/j.1399-5618.2010.00882.x. Bipolar Disord. 2010. PMID: 21176028 Free PMC article.
Recessive LAMC3 mutations cause malformations of occipital cortical development.
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. Barak T, et al. Among authors: mane s. Nat Genet. 2011 Jun;43(6):590-4. doi: 10.1038/ng.836. Epub 2011 May 15. Nat Genet. 2011. PMID: 21572413 Free PMC article.
Characterization of the DNA copy-number genome in the blood of cutaneous T-cell lymphoma patients.
Lin WM, Lewis JM, Filler RB, Modi BG, Carlson KR, Reddy S, Thornberg A, Saksena G, Umlauf S, Oberholzer PA, Karpova M, Getz G, Mane S, Garraway LA, Dummer R, Berger CL, Edelson RL, Girardi M. Lin WM, et al. Among authors: mane s. J Invest Dermatol. 2012 Jan;132(1):188-97. doi: 10.1038/jid.2011.254. Epub 2011 Sep 1. J Invest Dermatol. 2012. PMID: 21881587 Free PMC article.
Gene-expression differences in peripheral blood between lithium responders and non-responders in the Lithium Treatment-Moderate dose Use Study (LiTMUS).
Beech RD, Leffert JJ, Lin A, Sylvia LG, Umlauf S, Mane S, Zhao H, Bowden C, Calabrese JR, Friedman ES, Ketter TA, Iosifescu DV, Reilly-Harrington NA, Ostacher M, Thase ME, Nierenberg A. Beech RD, et al. Among authors: mane s. Pharmacogenomics J. 2014 Apr;14(2):182-91. doi: 10.1038/tpj.2013.16. Epub 2013 May 14. Pharmacogenomics J. 2014. PMID: 23670706 Clinical Trial.
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.
Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW. Ercan-Sencicek AG, et al. Among authors: mane s. Eur J Hum Genet. 2015 Feb;23(2):165-72. doi: 10.1038/ejhg.2014.82. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781755 Free PMC article.
485 results