Publications

Find all our publications on PubMed.

Nord Lab Publications:

2017

Gompers AL, Su-Feher L, Ellegood J, Copping NA, Riyadh MA, Stradleigh TW, Pride MC, Schaffler MD, Wade AA, Catta-Preta R, Zdilar I, Louis S, Kaushik G, Mannion BJ, Plajzer-Frick I, Afzal V, Visel A, Pennacchio LA, Dickel DE, Lerch JP, Crawley JN, Zarbalis KS, Silverman JL, Nord AS. Germline Chd8 haploinsufficiency alters brain development in mouse. Nat Neurosci. 2017 Jun 26. PMID: 28671691.

2016

Silberberg SN, Taher L, Lindtner S, Sandberg M, Nord AS, Vogt D, Mckinsey GL, Hoch R, Pattabiraman K, Zhang D, Ferran JL, Rajkovic A, Golonzhka O, Kim C, Zeng  H, Puelles L, Visel A, Rubenstein JL. Subpallial Enhancer Transgenic Lines: a Data and Tool Resource to Study Transcriptional Regulation of GABAergic Cell Fate. Neuron. 2016 Oct 5;92(1):59-74. PMID: 27710791.

van der Harst P, et al., 52 Genetic Loci Influencing Myocardial Mass. J Am Coll Cardiol. 2016 Sep 27;68(13):1435-48. PMID: 27659466.

Sandberg M, Flandin P, Silberberg S, Su-Feher L, Price JD, Hu JS, Kim C, Visel A, Nord AS, Rubenstein JL. Transcriptional Networks Controlled by NKX2-1 in the Development of Forebrain GABAergic Neurons. Neuron. 2016 Sep 21;91(6):1260-75. PMID: 27657450.

Yan D, Tekin D, Bademci G, Foster J 2nd, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, Kabahuma RI, Kameswaran M, Lasisi TJ, Adedeji WA, Lasisi AO, Menendez I, Herrera M, Carranza C, Maroofian R, Crosby AH, Bensaid M,  Masmoudi S, Behnam M, Mojarrad M, Feng Y, Duman D, Mawla AM, Nord AS, Blanton SH, Liu XZ, Tekin M. Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Hum Genet. 2016 Aug;135(8):953-61. PMID: 27344577.

2015

Golonzhka O, Nord A, Tang PL, Lindtner S, Ypsilanti AR, Ferretti E, Visel A,  Selleri L, Rubenstein JL. Pbx Regulates Patterning of the Cerebral Cortex in Progenitors and Postmitotic Neurons. Neuron. 2015 Dec 16;88(6):1192-207. PMID: 26671461; PMCID: PMC4688141.

Gray JM, Kim TK, West AE, Nord AS, Markenscoff-Papadimitriou E, Lomvardas S. Genomic Views of Transcriptional Enhancers: Essential Determinants of Cellular Identity and Activity-Dependent Responses in the CNS. J Neurosci. 2015 Oct 14;35(41):13819-26. PMID: 26468181; PMCID: PMC4604220.

Nord AS, Learning about mammalian gene regulation from functional enhancer assays in the mouse. Genomics. 2015; 106(3):178-84. PMID: 26079655.

Nord AS, Pattabiraman K, Visel A, Rubenstein JL. Genomic perspectives of transcriptional regulation in forebrain development. Neuron. 2015; 85(1):27-47.  PMID: 25569346; PMCID: PMC4438709.


Earlier Publications from Alex Nord:

Wu H, Nord AS, Akiyama JA, Shoukry M, Afzal V, et al. Tissue-specific RNA expression marks distant-acting developmental enhancers. PLoS Genetics. 2014; 10(9):e1004610. PMID: 25188404; PMCID: PMC4154669.

Pattabiraman K, Golonzhka O, Lindtner S, Nord AS, Taher L, et al. Transcriptional regulation of enhancers active in protodomains of the developing cerebral cortex. Neuron. 2014; 82(5):989-1003. PMID:24814534, PMCID: PMC4104757.

Attanasio C, Nord AS, Zhu Y, Blow MJ, Biddie SC, et al. Tissue-specific SMARCA4 binding at active and repressed regulatory elements during embryogenesis. Genome Research. 2014; 24(6):920-9. PMID: 24752179, PMCID: PMC4032856.

Dickel DE, Zhu Y, Nord AS, Wylie JN, Akiyama JA, et al. Function-based identification of mammalian enhancers using site-specific integration. Nature Methods. 2014; 11(5):566-71. PMID: 24658141, PMCID: PMC4008384.

Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, et al. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clinical Cancer Research: an official journal of the American Association for Cancer Research. 2014; 20(3):764-75. PMID: 24240112, PMCID: PMC3944197.

Nord AS, Blow MJ, Attanasio C, Akiyama JA, Holt A, et al. Rapid and pervasive changes in genome-wide enhancer usage during mammalian development. Cell. 2013; 155(7):1521-31. PMID: 24360275, PMCID: PMC3989111.

Sanchez-Castro M, Gordon CT, Petit F, Nord AS, Callier P, et al. Congenital heart defects in patients with deletions upstream of SOX9. Human Mutation. 2013;34(12):1628-31. PMID: 24115316.

Attanasio C, Nord AS, Zhu Y, Blow MJ, Li Z, et al. Fine tuning of craniofacial morphology by distant-acting enhancers. Science. 2013; 342(6157):1241006. PMID: 24159046, PMCID: PMC3991470.

Rippey C, Walsh T, Gulsuner S, Brodsky M, Nord AS, et al. Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. American Journal of Human Genetics. 2013; 93(4):697-710. PMID:24094746, PMCID: PMC3791253.

Kodera H, Kato M, Nord AS, Walsh T, Lee M, et al. Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia. 2013; 54(7):1262-9. PMID: 23662938.

Visel A, Taher L, Girgis H, May D, Golonzhka O, et al. A high-resolution enhancer atlas of the developing telencephalon. Cell. 2013; 152(4):895-908. PMID: 23375746, PMCID: PMC3660042.

Pritchard CC, Smith C, Salipante SJ, Lee MK, Thornton AM, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. The Journal of Molecular Diagnostics: JMD. 2012;14(4):357-66. PMID: 22658618, PMCID: PMC3391416.

Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proceedings of the National Academy of Sciences of the United States of America. 2011; 108(44):18032-7. PMID:22006311, PMCID: PMC3207658.

Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, et al. Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. European journal of human genetics. 2011; 19(6):727-31. PMID:21448237, PMCID: PMC3110052.

Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. 2011; 12:184. PMID: 21486468, PMCID: PMC3088570.

Ronald J, Rajagopalan R, Cerrato F, Nord AS, Hatsukami T, et al. Genetic variation in LPAL2, LPA, and PLG predicts plasma lipoprotein(a) level and carotid artery disease risk. Stroke; a journal of cerebral circulation. 2011; 42(1):2-9. PMID: 21127300, PMCID: PMC3020902.

Gaynor JW, Gerdes M, Nord AS, Bernbaum J, Zackai E, et al. Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy? The Journal of Thoracic and Cardiovascular Surgery. 2010; 140(6):1230-7. PMID: 20951391, PMCID: PMC3278908.

Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proceedings of the National Academy of Sciences of the United States of America. 2010; 107(28):12629-33. PMID:20616022, PMCID: PMC2906584.

Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, et al. Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. American Journal of Human Genetics. 2010; 87(1):101-9. PMID: 20602916, PMCID: PMC2896780.

Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, et al. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. European Journal of Human Genetics. 2010; 18(4):407-13. PMID: 19888295, PMCID: PMC2987250.

Chen J, Zimmerman RA, Jarvik GP, Nord AS, Clancy RR, et al. Perioperative stroke in infants undergoing open heart operations for congenital heart disease. The Annals of Thoracic Surgery. 2009; 88(3):823-9. PMID: 19699905, PMCID: PMC2840405.

Fuller S, Nord AS, Gerdes M, Wernovsky G, Jarvik GP, et al. Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery. European Journal of Cardio-thoracic Surgery: official journal of the European Association for Cardio-thoracic Surgery. 2009; 36(1):40-7. PMID: 19394849.

Gaynor JW, Nord AS, Wernovsky G, Bernbaum J, Solot CB, et al. Apolipoprotein genotype modifies the risk of behavior problems after infant cardiac surgery. Pediatrics. 2009; 124(1):241-50. PMID:19564306, PMCID: PMC2840402.

Ober C, Nord AS, Thompson EE, Pan L, Tan Z, et al. Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q. Journal of Lipid Research. 2009; 50(5):798-806. PMID: 19124843,PMCID: PMC2666166.

Reiner AP, Wurfel MM, Lange LA, Carlson CS, Nord AS, et al. Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation. Arteriosclerosis, Thrombosis, and Vascular Biology. 2008;28(7):1407-12. PMID: 18451331, PMCID:PMC2748384.

Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008; 320(5875):539-43. PMID: 18369103.

Tabbutt S, Nord AS, Jarvik GP, Bernbaum J, Wernovsky G, et al. Neurodevelopmental outcomes after staged palliation for hypoplastic left heart syndrome. Pediatrics.2008; 121(3):476-83. PMID: 18310195.

Crawford DC, Nord AS, Badzioch MD, Ranchalis J, McKinstry LA, et al. A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk. Journal of Lipid Research. 2008; 49(3):588-96. PMID: 18056683.

Zeltser I, Jarvik GP, Bernbaum J, Wernovsky G, Nord AS, et al. Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot. The Journal of Thoracic and Cardiovascular Surgery. 2008; 135(1):91-7. PMID: 18179924

Nord AS, Vranizan K, Tingley W, Zambon AC, Hanspers K, et al. Modeling insertional mutagenesis using gene length and expression in murine embryonic stem cells. PloS One. 2007; 2(7):e617. PMID: 17637833, PMCID:PMC1910612.

Gaynor JW, Wernovsky G, Jarvik GP, Bernbaum J, Gerdes M, et al. Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery. The Journal of Thoracic and Cardiovascular Surgery. 2007; 133(5):1344-53, 1353.e1-3. PMID: 17467455, PMCID: PMC2844117.

Carlson CS, Heagerty PJ, Nord AS, Pritchard DK, Ranchalis J, et al. TagSNP evaluation for the association of 42 inflammation loci and vascular disease:evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects. Human Genetics. 2007;121(1):65-75. PMID: 17115186.

Goode EL, Fridley BL, Sun Z, Atkinson EJ, Nord AS, et al. Comparison of tagging single-nucleotide polymorphism methods in association analyses. BMC Proceedings. 2007; 1 Suppl 1:S6. PMID: 18466560, PMCID: PMC2367496.

Nord AS, Chang PJ, Conklin BR, Cox AV, Harper CA, et al. The International Gene Trap Consortium Website: a portal to all publicly available gene trap cell lines in mouse. Nucleic Acids Research. 2006; 34(Database issue):D642-8. PMID: 16381950, PMCID: PMC1347459.

Skarnes WC, von Melchner H, Wurst W, Hicks G, Nord AS, et al. A public gene trap resource for mouse functional genomics. Nature Genetics. 2004; 36(6):543-4.  PMID: 15167922, PMCID: PMC2716026.