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Items: 1 to 20 of 566

1.

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimäki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Vardarajan B, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X; Alzheimer’s Disease Sequencing Project, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, Farrer LA.

Mol Psychiatry. 2018 Aug 14. doi: 10.1038/s41380-018-0112-7. [Epub ahead of print]

PMID:
30108311
2.

SYT1-associated neurodevelopmental disorder: a case series.

Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S; Broad Center for Mendelian Genomics, Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL.

Brain. 2018 Aug 13. doi: 10.1093/brain/awy209. [Epub ahead of print]

PMID:
30107533
3.

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO.

Hum Genet. 2018 Jul 26. doi: 10.1007/s00439-018-1907-y. [Epub ahead of print]

PMID:
30046887
4.

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.

Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn IK, Karaca E, Punetha J, Poli C; Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, Lappalainen T, Lupski JR, Carvalho CMB.

Am J Hum Genet. 2018 Aug 2;103(2):171-187. doi: 10.1016/j.ajhg.2018.06.009. Epub 2018 Jul 19.

PMID:
30032986
5.

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.

Ricketts CJ, De Cubas AA, Fan H, Smith CC, Lang M, Reznik E, Bowlby R, Gibb EA, Akbani R, Beroukhim R, Bottaro DP, Choueiri TK, Gibbs RA, Godwin AK, Haake S, Hakimi AA, Henske EP, Hsieh JJ, Ho TH, Kanchi RS, Krishnan B, Kwiatkowski DJ, Lui W, Merino MJ, Mills GB, Myers J, Nickerson ML, Reuter VE, Schmidt LS, Shelley CS, Shen H, Shuch B, Signoretti S, Srinivasan R, Tamboli P, Thomas G, Vincent BG, Vocke CD, Wheeler DA, Yang L, Kim WY, Robertson AG; Cancer Genome Atlas Research Network, Spellman PT, Rathmell WK, Linehan WM.

Cell Rep. 2018 Jun 19;23(12):3698. doi: 10.1016/j.celrep.2018.06.032. No abstract available.

6.

Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.

Aronson S, Babb L, Ames D, Gibbs RA, Venner E, Connelly JJ, Marsolo K, Weng C, Williams MS, Hartzler AL, Liang WH, Ralston JD, Devine EB, Murphy S, Chute CG, Caraballo PJ, Kullo IJ, Freimuth RR, Rasmussen LV, Wehbe FH, Peterson JF, Robinson JR, Wiley K, Overby Taylor C; eMERGE Network EHRI Working Group.

J Am Med Inform Assoc. 2018 May 31. doi: 10.1093/jamia/ocy051. [Epub ahead of print]

PMID:
29860405
7.

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B; Undiagnosed Diseases Network members, Zieba BA, Küry S, Krüger E, Lupski JR, Bostwick BL, Orange JS.

Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. doi: 10.1016/j.ajhg.2018.04.010. Epub 2018 May 24.

8.

Phenotypic expansion illuminates multilocus pathogenic variation.

Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Yuregir OO, Bozdogan S, Yesil G, Isikay S, Muzny D, Gibbs RA, Lupski JR.

Genet Med. 2018 Apr 26. doi: 10.1038/gim.2018.33. [Epub ahead of print]

PMID:
29790871
9.

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.

Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernández PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM.

Blood. 2018 Aug 9;132(6):658-662. doi: 10.1182/blood-2017-12-824433. Epub 2018 May 21. No abstract available.

PMID:
29784638
10.

Comparative genomics of the miniature wasp and pest control agent Trichogramma pretiosum.

Lindsey ARI, Kelkar YD, Wu X, Sun D, Martinson EO, Yan Z, Rugman-Jones PF, Hughes DST, Murali SC, Qu J, Dugan S, Lee SL, Chao H, Dinh H, Han Y, Doddapaneni HV, Worley KC, Muzny DM, Ye G, Gibbs RA, Richards S, Yi SV, Stouthamer R, Werren JH.

BMC Biol. 2018 May 18;16(1):54. doi: 10.1186/s12915-018-0520-9.

11.

Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction.

Macri V, Brody JA, Arking DE, Hucker WJ, Yin X, Lin H, Mills RW, Sinner MF, Lubitz SA, Liu CT, Morrison AC, Alonso A, Li N, Fedorov VV, Janssen PM, Bis JC, Heckbert SR, Dolmatova EV, Lumley T, Sitlani CM, Cupples LA, Pulit SL, Newton-Cheh C, Barnard J, Smith JD, Van Wagoner DR, Chung MK, Vlahakes GJ, O'Donnell CJ, Rotter JI, Margulies KB, Morley MP, Cappola TP, Benjamin EJ, Muzny D, Gibbs RA, Jackson RD, Magnani JW, Herndon CN, Rich SS, Psaty BM, Milan DJ, Boerwinkle E, Mohler PJ, Sotoodehnia N, Ellinor PT.

Circ Genom Precis Med. 2018 May;11(5):e001663. doi: 10.1161/CIRCGEN.116.001663.

PMID:
29752399
12.

An audit of the reliability of influenza vaccination and medical information extracted from eHealth records in general practice.

Regan AK, Gibbs RA, Effler PV.

Vaccine. 2018 May 31;36(23):3195-3198. doi: 10.1016/j.vaccine.2018.04.076. Epub 2018 Apr 30.

PMID:
29716772
13.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

Wiszniewski W, Gawlinski P, Gambin T, Bekiesinska-Figatowska M, Obersztyn E, Antczak-Marach D, Akdemir ZHC, Harel T, Karaca E, Jurek M, Sobecka K, Nowakowska B, Kruk M, Terczynska I, Goszczanska-Ciuchta A, Rudzka-Dybala M, Jamroz E, Pyrkosz A, Jakubiuk-Tomaszuk A, Iwanowski P, Gieruszczak-Bialek D, Piotrowicz M, Sasiadek M, Kochanowska I, Gurda B, Steinborn B, Dawidziuk M, Castaneda J, Wlasienko P, Bezniakow N, Jhangiani SN, Hoffman-Zacharska D, Bal J, Szczepanik E, Boerwinkle E, Gibbs RA, Lupski JR.

Eur J Hum Genet. 2018 Aug;26(8):1121-1131. doi: 10.1038/s41431-018-0137-z. Epub 2018 Apr 30.

PMID:
29706646
14.

The phenotypic spectrum of Xia-Gibbs syndrome.

Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA.

Am J Med Genet A. 2018 Jun;176(6):1315-1326. doi: 10.1002/ajmg.a.38699. Epub 2018 Apr 25.

PMID:
29696776
15.

Chemistry-First Approach for Nomination of Personalized Treatment in Lung Cancer.

McMillan EA, Ryu MJ, Diep CH, Mendiratta S, Clemenceau JR, Vaden RM, Kim JH, Motoyaji T, Covington KR, Peyton M, Huffman K, Wu X, Girard L, Sung Y, Chen PH, Mallipeddi PL, Lee JY, Hanson J, Voruganti S, Yu Y, Park S, Sudderth J, DeSevo C, Muzny DM, Doddapaneni H, Gazdar A, Gibbs RA, Hwang TH, Heymach JV, Wistuba I, Coombes KR, Williams NS, Wheeler DA, MacMillan JB, Deberardinis RJ, Roth MG, Posner BA, Minna JD, Kim HS, White MA.

Cell. 2018 May 3;173(4):864-878.e29. doi: 10.1016/j.cell.2018.03.028. Epub 2018 Apr 19.

PMID:
29681454
16.

The Toxicogenome of Hyalella azteca: A Model for Sediment Ecotoxicology and Evolutionary Toxicology.

Poynton HC, Hasenbein S, Benoit JB, Sepulveda MS, Poelchau MF, Hughes DST, Murali SC, Chen S, Glastad KM, Goodisman MAD, Werren JH, Vineis JH, Bowen JL, Friedrich M, Jones J, Robertson HM, Feyereisen R, Mechler-Hickson A, Mathers N, Lee CE, Colbourne JK, Biales A, Johnston JS, Wellborn GA, Rosendale AJ, Cridge AG, Munoz-Torres MC, Bain PA, Manny AR, Major KM, Lambert FN, Vulpe CD, Tuck P, Blalock BJ, Lin YY, Smith ME, Ochoa-Acuña H, Chen MM, Childers CP, Qu J, Dugan S, Lee SL, Chao H, Dinh H, Han Y, Doddapaneni H, Worley KC, Muzny DM, Gibbs RA, Richards S.

Environ Sci Technol. 2018 May 15;52(10):6009-6022. doi: 10.1021/acs.est.8b00837. Epub 2018 Apr 24.

PMID:
29634279
17.

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, Goldman JR, Stray-Pedersen A, Pedroza LA, Poli MC, Aldave-Becerra JC, McGhee SA, Al-Herz W, Chamdin A, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Cao TN, Hong DN, Gibbs RA, Lupski JR, Orange JS, McClain KL, Allen CE.

Blood. 2018 Jul 5;132(1):89-100. doi: 10.1182/blood-2017-11-814244. Epub 2018 Apr 9.

PMID:
29632024
18.

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.

Jordan VK, Beck TF, Hernandez-Garcia A, Kundert PN, Kim BJ, Jhangiani SN, Gambin T, Starkovich M, Punetha J, Paine IS, Posey JE, Li AH, Muzny D, Hsu CW, Lashua AJ, Sun X, Fernandes CJ, Dickinson ME, Lally KP, Gibbs RA, Boerwinkle E, Lupski JR, Scott DA.

Hum Mol Genet. 2018 Jun 15;27(12):2064-2075. doi: 10.1093/hmg/ddy110.

PMID:
29618029
19.

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.

Ricketts CJ, De Cubas AA, Fan H, Smith CC, Lang M, Reznik E, Bowlby R, Gibb EA, Akbani R, Beroukhim R, Bottaro DP, Choueiri TK, Gibbs RA, Godwin AK, Haake S, Hakimi AA, Henske EP, Hsieh JJ, Ho TH, Kanchi RS, Krishnan B, Kwiatkowski DJ, Lui W, Merino MJ, Mills GB, Myers J, Nickerson ML, Reuter VE, Schmidt LS, Shelley CS, Shen H, Shuch B, Signoretti S, Srinivasan R, Tamboli P, Thomas G, Vincent BG, Vocke CD, Wheeler DA, Yang L, Kim WY, Robertson AG; Cancer Genome Atlas Research Network, Spellman PT, Rathmell WK, Linehan WM.

Cell Rep. 2018 Apr 3;23(1):313-326.e5. doi: 10.1016/j.celrep.2018.03.075. Erratum in: Cell Rep. 2018 Jun 19;23(12):3698.

20.

Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study.

Feofanova EV, Yu B, Metcalf GA, Liu X, Muzny D, Below JE, Wagenknecht LE, Gibbs RA, Morrison AC, Boerwinkle E.

Genetics. 2018 Jun;209(2):607-616. doi: 10.1534/genetics.118.300751. Epub 2018 Apr 2.

PMID:
29610217

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