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Items: 1 to 50 of 83

1.

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, Dea J, Duhn C, Erdman CA, Gilson MC, Yadav R, Handsaker RE, Kashin S, Klei L, Mandell JD, Nowakowski TJ, Liu Y, Pochareddy S, Smith L, Walker MF, Waterman MJ, He X, Kriegstein AR, Rubenstein JL, Sestan N, McCarroll SA, Neale BM, Coon H, Willsey AJ, Buxbaum JD, Daly MJ, State MW, Quinlan AR, Marth GT, Roeder K, Devlin B, Talkowski ME, Sanders SJ.

Nat Genet. 2018 May;50(5):727-736. doi: 10.1038/s41588-018-0107-y. Epub 2018 Apr 26.

PMID:
29700473
2.

Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.

Glessner JT, Li J, Wang D, March M, Lima L, Desai A, Hadley D, Kao C, Gur RE, Cohen N, Sleiman PMA, Li Q, Hakonarson H; Janssen-CHOP Neuropsychiatric Genomics Working Group.

Genome Med. 2017 Nov 30;9(1):106. doi: 10.1186/s13073-017-0494-1.

3.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME.

Genome Biol. 2017 Mar 6;18(1):36. doi: 10.1186/s13059-017-1158-6.

4.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

5.

Corrigendum: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder.

Lima Lde A, Feio-Dos-Santos AC, Belangero SI, Gadelha A, Bressan RA, Salum GA, Pan PM, Moriyama TS, Graeff-Martins AS, Tamanaha AC, Alvarenga P, Krieger FV, Fleitlich-Bilyk B, Jackowski AP, Brietzke E, Sato JR, Polanczyk GV, Mari Jde J, Manfro GG, do Rosário MC, Miguel EC, Puga RD, Tahira AC, Souza VN, Chile T, Gouveia GR, Simões SN, Chang X, Pellegrino R, Tian L, Glessner JT, Hashimoto RF, Rohde LA, Sleiman PM, Hakonarson H, Brentani H.

Sci Rep. 2016 May 24;6:25861. doi: 10.1038/srep25861. No abstract available.

6.

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.

Finkel TH, Li J, Wei Z, Wang W, Zhang H, Behrens EM, Reuschel EL, Limou S, Wise C, Punaro M, Becker ML, Munro JE, Flatø B, Førre Ø, Thompson SD, Langefeld CD, Glass DN, Glessner JT, Kim CE, Frackelton E, Shivers DK, Thomas KA, Chiavacci RM, Hou C, Xu K, Snyder J, Qiu H, Mentch F, Wang K, Winkler CA, Lie BA, Ellis JA, Hakonarson H.

BMC Med Genet. 2016 Mar 22;17:24. doi: 10.1186/s12881-016-0285-3.

7.

An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder.

Lima Lde A, Feio-dos-Santos AC, Belangero SI, Gadelha A, Bressan RA, Salum GA, Pan PM, Moriyama TS, Graeff-Martins AS, Tamanaha AC, Alvarenga P, Krieger FV, Fleitlich-Bilyk B, Jackowski AP, Brietzke E, Sato JR, Polanczyk GV, Mari Jde J, Manfro GG, do Rosário MC, Miguel EC, Puga RD, Tahira AC, Souza VN, Chile T, Gouveia GR, Simões SN, Chang X, Pellegrino R, Tian L, Glessner JT, Hashimoto RF, Rohde LA, Sleiman PM, Hakonarson H, Brentani H.

Sci Rep. 2016 Mar 7;6:22851. doi: 10.1038/srep22851. Erratum in: Sci Rep. 2016 May 24;6:25861.

8.

Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

Li YR, Zhao SD, Li J, Bradfield JP, Mohebnasab M, Steel L, Kobie J, Abrams DJ, Mentch FD, Glessner JT, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Li D, Maggadottir SM, Thomas KA, Qui H, Chiavacci RM, Kim CE, Wang F, Snyder J, Flatø B, Førre Ø, Denson LA, Thompson SD, Becker ML, Guthery SL, Latiano A, Perez E, Resnick E, Strisciuglio C, Staiano A, Miele E, Silverberg MS, Lie BA, Punaro M, Russell RK, Wilson DC, Dubinsky MC, Monos DS, Annese V, Munro JE, Wise C, Chapel H, Cunningham-Rundles C, Orange JS, Behrens EM, Sullivan KE, Kugathasan S, Griffiths AM, Satsangi J, Grant SF, Sleiman PM, Finkel TH, Polychronakos C, Baldassano RN, Luning Prak ET, Ellis JA, Li H, Keating BJ, Hakonarson H.

Nat Commun. 2015 Oct 9;6:8442. doi: 10.1038/ncomms9442.

9.
10.

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, Hou C, Abrams DJ, Chang D, Gao F, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Glessner JT, Li D, Kao C, Thomas KA, Qiu H, Chiavacci RM, Kim CE, Wang F, Snyder J, Richie MD, Flatø B, Førre Ø, Denson LA, Thompson SD, Becker ML, Guthery SL, Latiano A, Perez E, Resnick E, Russell RK, Wilson DC, Silverberg MS, Annese V, Lie BA, Punaro M, Dubinsky MC, Monos DS, Strisciuglio C, Staiano A, Miele E, Kugathasan S, Ellis JA, Munro JE, Sullivan KE, Wise CA, Chapel H, Cunningham-Rundles C, Grant SF, Orange JS, Sleiman PM, Behrens EM, Griffiths AM, Satsangi J, Finkel TH, Keinan A, Prak ET, Polychronakos C, Baldassano RN, Li H, Keating BJ, Hakonarson H.

Nat Med. 2015 Sep;21(9):1018-27. doi: 10.1038/nm.3933. Epub 2015 Aug 24.

11.

CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations.

Dajani R, Li J, Wei Z, Glessner JT, Chang X, Cardinale CJ, Pellegrino R, Wang T, Hakooz N, Khader Y, Sheshani A, Zandaki D, Hakonarson H.

Sci Rep. 2015 Aug 21;5:13391. doi: 10.1038/srep13391.

12.

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.

Li J, Fung I, Glessner JT, Pandey R, Wei Z, Bakay M, Mentch FD, Pellegrino R, Wang T, Kim C, Hou C, Wang F, Chiavacci RM, Thomas KA, Spergel JM, Hakonarson H, Sleiman PM.

J Immunol. 2015 Aug 15;195(4):1599-607. doi: 10.4049/jimmunol.1402310. Epub 2015 Jul 17.

13.

Rare variants at 16p11.2 are associated with common variable immunodeficiency.

Maggadottir SM, Li J, Glessner JT, Li YR, Wei Z, Chang X, Mentch FD, Thomas KA, Kim CE, Zhao Y, Hou C, Wang F, Jørgensen SF, Perez EE, Sullivan KE, Orange JS, Karlsen TH, Chapel H, Cunningham-Rundles C, Hakonarson H.

J Allergy Clin Immunol. 2015 Jun;135(6):1569-77. doi: 10.1016/j.jaci.2014.12.1939. Epub 2015 Feb 10.

14.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK.

Circ Res. 2014 Oct 24;115(10):884-896. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.

15.

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.

Mitchell LE, Agopian AJ, Bhalla A, Glessner JT, Kim CE, Swartz MD, Hakonarson H, Goldmuntz E.

Hum Mol Genet. 2015 Jan 1;24(1):265-73. doi: 10.1093/hmg/ddu420. Epub 2014 Aug 18.

16.

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.

Connolly JJ, Glessner JT, Almoguera B, Crosslin DR, Jarvik GP, Sleiman PM, Hakonarson H.

Front Genet. 2014 Mar 18;5:51. doi: 10.3389/fgene.2014.00051. eCollection 2014. Review.

17.

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.

Matsunami N, Hensel CH, Baird L, Stevens J, Otterud B, Leppert T, Varvil T, Hadley D, Glessner JT, Pellegrino R, Kim C, Thomas K, Wang F, Otieno FG, Ho K, Christensen GB, Li D, Prekeris R, Lambert CG, Hakonarson H, Leppert MF.

Mol Autism. 2014 Jan 27;5(1):5. doi: 10.1186/2040-2392-5-5.

18.

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH.

PLoS Genet. 2013;9(10):e1003823. doi: 10.1371/journal.pgen.1003823. Epub 2013 Oct 3.

19.

Common variation contributes to the genetic architecture of social communication traits.

St Pourcain B, Whitehouse AJ, Ang WQ, Warrington NM, Glessner JT, Wang K, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J, Hakonarson H, Pennell CE, Smith GD.

Mol Autism. 2013 Sep 18;4(1):34. doi: 10.1186/2040-2392-4-34.

20.

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

Tsai EA, Berman MA, Conlin LK, Rehm HL, Francey LJ, Deardorff MA, Holst J, Kaur M, Gallant E, Clark DM, Glessner JT, Jensen ST, Grant SF, Gruber PJ, Hakonarson H, Spinner NB, Krantz ID.

Am J Med Genet A. 2013 Sep;161A(9):2134-47. doi: 10.1002/ajmg.a.36038. Epub 2013 Jul 29.

21.

A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.

Li WD, Jiao H, Wang K, Zhang CK, Glessner JT, Grant SF, Zhao H, Hakonarson H, Arlen Price R.

Obesity (Silver Spring). 2013 Sep;21(9):E490-4. doi: 10.1002/oby.20303. Epub 2013 May 24.

22.

High rate of disease-related copy number variations in childhood onset schizophrenia.

Ahn K, Gotay N, Andersen TM, Anvari AA, Gochman P, Lee Y, Sanders S, Guha S, Darvasi A, Glessner JT, Hakonarson H, Lencz T, State MW, Shugart YY, Rapoport JL.

Mol Psychiatry. 2014 May;19(5):568-72. doi: 10.1038/mp.2013.59. Epub 2013 May 21.

23.

The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.

Deliard S, Panossian S, Mentch FD, Kim CE, Hou C, Frackelton EC, Bradfield JP, Glessner JT, Zhang H, Wang K, Sleiman PM, Chiavacci RM, Berkowitz RI, Hakonarson H, Zhao J, Grant SF.

Obesity (Silver Spring). 2013 Jan;21(1):159-63. doi: 10.1002/oby.20147.

24.

Copy number variations in alternative splicing gene networks impact lifespan.

Glessner JT, Smith AV, Panossian S, Kim CE, Takahashi N, Thomas KA, Wang F, Seidler K, Harris TB, Launer LJ, Keating B, Connolly J, Sleiman PM, Buxbaum JD, Grant SF, Gudnason V, Hakonarson H.

PLoS One. 2013;8(1):e53846. doi: 10.1371/journal.pone.0053846. Epub 2013 Jan 30.

25.

Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

Cui S, Leyva-Vega M, Tsai EA, EauClaire SF, Glessner JT, Hakonarson H, Devoto M, Haber BA, Spinner NB, Matthews RP.

Gastroenterology. 2013 May;144(5):1107-1115.e3. doi: 10.1053/j.gastro.2013.01.022. Epub 2013 Jan 18.

26.

ParseCNV integrative copy number variation association software with quality tracking.

Glessner JT, Li J, Hakonarson H.

Nucleic Acids Res. 2013 Mar 1;41(5):e64. doi: 10.1093/nar/gks1346. Epub 2013 Jan 4.

27.

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

Li J, Glessner JT, Zhang H, Hou C, Wei Z, Bradfield JP, Mentch FD, Guo Y, Kim C, Xia Q, Chiavacci RM, Thomas KA, Qiu H, Grant SF, Furth SL, Hakonarson H, Sleiman PM.

Hum Mol Genet. 2013 Apr 1;22(7):1457-64. doi: 10.1093/hmg/dds534. Epub 2012 Dec 20.

28.

Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study.

Yang TL, Guo Y, Shen H, Li J, Glessner JT, Qiu C, Deng FY, Tian Q, Yu P, Liu YZ, Liu YJ, Hakonarson H, Grant SF, Deng HW.

J Clin Endocrinol Metab. 2013 Jan;98(1):E191-5. doi: 10.1210/jc.2012-2751. Epub 2012 Nov 21.

29.

A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale.

Connolly JJ, Glessner JT, Hakonarson H.

Child Dev. 2013 Jan-Feb;84(1):17-33. doi: 10.1111/j.1467-8624.2012.01838.x. Epub 2012 Aug 30.

PMID:
22935194
30.

Individual common variants exert weak effects on the risk for autism spectrum disorders.

Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Nygren G, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI Jr, Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer SW, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B.

Hum Mol Genet. 2012 Nov 1;21(21):4781-92. doi: 10.1093/hmg/dds301. Epub 2012 Jul 26.

31.

Examination of genetic variants influencing lipid traits in pediatric populations.

Wang K, Zhang H, Mentch FD, Bradfield JP, Glessner JT, Qiu H, Guo Y, Hou C, Frackelton EC, Thomas K, Bender A, Albano A, Otieno G, Garris M, Seidler K, Moy A, Kim CE, Keating B, Chiavacci RM, Grundmeier R, Sleiman PA, Grant SF, Hakonarson H.

J Pediatr Genet. 2012 Jun;1(2):85-98. doi: 10.3233/PGE-2012-016.

32.

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.

Saxena R, Elbers CC, Guo Y, Peter I, Gaunt TR, Mega JL, Lanktree MB, Tare A, Castillo BA, Li YR, Johnson T, Bruinenberg M, Gilbert-Diamond D, Rajagopalan R, Voight BF, Balasubramanyam A, Barnard J, Bauer F, Baumert J, Bhangale T, Böhm BO, Braund PS, Burton PR, Chandrupatla HR, Clarke R, Cooper-DeHoff RM, Crook ED, Davey-Smith G, Day IN, de Boer A, de Groot MC, Drenos F, Ferguson J, Fox CS, Furlong CE, Gibson Q, Gieger C, Gilhuijs-Pederson LA, Glessner JT, Goel A, Gong Y, Grant SF, Grobbee DE, Hastie C, Humphries SE, Kim CE, Kivimaki M, Kleber M, Meisinger C, Kumari M, Langaee TY, Lawlor DA, Li M, Lobmeyer MT, Maitland-van der Zee AH, Meijs MF, Molony CM, Morrow DA, Murugesan G, Musani SK, Nelson CP, Newhouse SJ, O'Connell JR, Padmanabhan S, Palmen J, Patel SR, Pepine CJ, Pettinger M, Price TS, Rafelt S, Ranchalis J, Rasheed A, Rosenthal E, Ruczinski I, Shah S, Shen H, Silbernagel G, Smith EN, Spijkerman AW, Stanton A, Steffes MW, Thorand B, Trip M, van der Harst P, van der A DL, van Iperen EP, van Setten J, van Vliet-Ostaptchouk JV, Verweij N, Wolffenbuttel BH, Young T, Zafarmand MH, Zmuda JM; Look AHEAD Research Group; DIAGRAM consortium, Boehnke M, Altshuler D, McCarthy M, Kao WH, Pankow JS, Cappola TP, Sever P, Poulter N, Caulfield M, Dominiczak A, Shields DC, Bhatt DL, Zhang L, Curtis SP, Danesh J, Casas JP, van der Schouw YT, Onland-Moret NC, Doevendans PA, Dorn GW 2nd, Farrall M, FitzGerald GA, Hamsten A, Hegele R, Hingorani AD, Hofker MH, Huggins GS, Illig T, Jarvik GP, Johnson JA, Klungel OH, Knowler WC, Koenig W, März W, Meigs JB, Melander O, Munroe PB, Mitchell BD, Bielinski SJ, Rader DJ, Reilly MP, Rich SS, Rotter JI, Saleheen D, Samani NJ, Schadt EE, Shuldiner AR, Silverstein R, Kottke-Marchant K, Talmud PJ, Watkins H, Asselbergs FW, de Bakker PI, McCaffery J, Wijmenga C, Sabatine MS, Wilson JG, Reiner A, Bowden DW, Hakonarson H, Siscovick DS, Keating BJ.

Am J Hum Genet. 2012 Mar 9;90(3):410-25. doi: 10.1016/j.ajhg.2011.12.022. Epub 2012 Feb 9. Erratum in: Am J Hum Genet. 2012 Apr 6;90(4):753. Sever, Peter [added]; Poulter, Neil [added] Bhatt, Deepak [corrected to Bhatt, Deepak L]; Asselbergs, Folkert [corrected to Asselbergs, Folkert W].

33.

Rare genomic deletions and duplications and their role in neurodevelopmental disorders.

Glessner JT, Connolly JJ, Hakonarson H.

Curr Top Behav Neurosci. 2012;12:345-60. doi: 10.1007/7854_2011_179. Review.

PMID:
22241247
34.

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.

Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, Sleiman PM, Zhang H, Kim CE, Robison R, Lyon GJ, Flory JH, Bradfield JP, Imielinski M, Hou C, Frackelton EC, Chiavacci RM, Sakurai T, Rabin C, Middleton FA, Thomas KA, Garris M, Mentch F, Freitag CM, Steinhausen HC, Todorov AA, Reif A, Rothenberger A, Franke B, Mick EO, Roeyers H, Buitelaar J, Lesch KP, Banaschewski T, Ebstein RP, Mulas F, Oades RD, Sergeant J, Sonuga-Barke E, Renner TJ, Romanos M, Romanos J, Warnke A, Walitza S, Meyer J, Pálmason H, Seitz C, Loo SK, Smalley SL, Biederman J, Kent L, Asherson P, Anney RJ, Gaynor JW, Shaw P, Devoto M, White PS, Grant SF, Buxbaum JD, Rapoport JL, Williams NM, Nelson SF, Faraone SV, Hakonarson H.

Nat Genet. 2011 Dec 4;44(1):78-84. doi: 10.1038/ng.1013.

35.

Lack of relationship between mitochondrial heteroplasmy or variation and childhood obesity.

Grant SF, Glessner JT, Bradfield JP, Zhao J, Tirone JE, Berkowitz RI, Hakonarson H, Sondheimer N.

Int J Obes (Lond). 2012 Jan;36(1):80-3. doi: 10.1038/ijo.2011.206. Epub 2011 Oct 18.

PMID:
22005716
36.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C, Coutanche M, Dawson G, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Foley S, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Green J, Guter SJ, Hakonarson H, Holt R, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Lamb JA, Leboyer M, Le Couteur A, Leventhal BL, Lord C, Lund SC, Maestrini E, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Miller J, Minopoli F, Mirza GK, Munson J, Nelson SF, Nygren G, Oliveira G, Pagnamenta AT, Papanikolaou K, Parr JR, Parrini B, Pickles A, Pinto D, Piven J, Posey DJ, Poustka A, Poustka F, Ragoussis J, Roge B, Rutter ML, Sequeira AF, Soorya L, Sousa I, Sykes N, Stoppioni V, Tancredi R, Tauber M, Thompson AP, Thomson S, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wang K, Wassink TH, White K, Wing K, Wittemeyer K, Yaspan BL, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Geschwind DH, Haines JL, Hallmayer J, Monaco AP, Nurnberger JI Jr, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vieland VJ, Wijsman EM, Green A, Gill M, Gallagher L, Vicente A, Ennis S.

Hum Genet. 2012 Apr;131(4):565-79. doi: 10.1007/s00439-011-1094-6. Epub 2011 Oct 14.

37.

A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

Bradfield JP, Qu HQ, Wang K, Zhang H, Sleiman PM, Kim CE, Mentch FD, Qiu H, Glessner JT, Thomas KA, Frackelton EC, Chiavacci RM, Imielinski M, Monos DS, Pandey R, Bakay M, Grant SF, Polychronakos C, Hakonarson H.

PLoS Genet. 2011 Sep;7(9):e1002293. doi: 10.1371/journal.pgen.1002293. Epub 2011 Sep 29.

38.

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.

Lyon GJ, Jiang T, Van Wijk R, Wang W, Bodily PM, Xing J, Tian L, Robison RJ, Clement M, Lin Y, Zhang P, Liu Y, Moore B, Glessner JT, Elia J, Reimherr F, van Solinge WW, Yandell M, Hakonarson H, Wang J, Johnson WE, Wei Z, Wang K.

Discov Med. 2011 Jul;12(62):41-55.

39.

Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans.

Zhao J, Bradfield JP, Zhang H, Sleiman PM, Kim CE, Glessner JT, Deliard S, Thomas KA, Frackelton EC, Li M, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF.

Obesity (Silver Spring). 2011 Dec;19(12):2436-9. doi: 10.1038/oby.2011.237. Epub 2011 Jul 21.

40.

A genome-wide association study on obesity and obesity-related traits.

Wang K, Li WD, Zhang CK, Wang Z, Glessner JT, Grant SF, Zhao H, Hakonarson H, Price RA.

PLoS One. 2011 Apr 28;6(4):e18939. doi: 10.1371/journal.pone.0018939. Erratum in: PLoS One. 2012;7(2). doi: 10.1371/annotation/a34ee94e-3e6a-48bd-a19e-398a4bb88580.

41.

Genome-wide association identifies diverse causes of common variable immunodeficiency.

Orange JS, Glessner JT, Resnick E, Sullivan KE, Lucas M, Ferry B, Kim CE, Hou C, Wang F, Chiavacci R, Kugathasan S, Sleasman JW, Baldassano R, Perez EE, Chapel H, Cunningham-Rundles C, Hakonarson H.

J Allergy Clin Immunol. 2011 Jun;127(6):1360-7.e6. doi: 10.1016/j.jaci.2011.02.039. Epub 2011 Apr 17.

42.

Genome-wide association: from confounded to confident.

Glessner JT, Hakonarson H.

Neuroscientist. 2011 Apr;17(2):174-84. doi: 10.1177/1073858410381533. Epub 2011 Jan 20. Review.

PMID:
21252379
43.

BMD-associated variation at the Osterix locus is correlated with childhood obesity in females.

Zhao J, Bradfield JP, Li M, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Frackelton EC, Chiavacci RM, Berkowitz RI, Zemel BS, Hakonarson H, Grant SF.

Obesity (Silver Spring). 2011 Jun;19(6):1311-4. doi: 10.1038/oby.2010.324. Epub 2011 Jan 6.

44.

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

Lanktree MB, Guo Y, Murtaza M, Glessner JT, Bailey SD, Onland-Moret NC, Lettre G, Ongen H, Rajagopalan R, Johnson T, Shen H, Nelson CP, Klopp N, Baumert J, Padmanabhan S, Pankratz N, Pankow JS, Shah S, Taylor K, Barnard J, Peters BJ, Maloney CM, Lobmeyer MT, Stanton A, Zafarmand MH, Romaine SP, Mehta A, van Iperen EP, Gong Y, Price TS, Smith EN, Kim CE, Li YR, Asselbergs FW, Atwood LD, Bailey KM, Bhatt D, Bauer F, Behr ER, Bhangale T, Boer JM, Boehm BO, Bradfield JP, Brown M, Braund PS, Burton PR, Carty C, Chandrupatla HR, Chen W, Connell J, Dalgeorgou C, Boer Ad, Drenos F, Elbers CC, Fang JC, Fox CS, Frackelton EC, Fuchs B, Furlong CE, Gibson Q, Gieger C, Goel A, Grobbee DE, Hastie C, Howard PJ, Huang GH, Johnson WC, Li Q, Kleber ME, Klein BE, Klein R, Kooperberg C, Ky B, Lacroix A, Lanken P, Lathrop M, Li M, Marshall V, Melander O, Mentch FD, Meyer NJ, Monda KL, Montpetit A, Murugesan G, Nakayama K, Nondahl D, Onipinla A, Rafelt S, Newhouse SJ, Otieno FG, Patel SR, Putt ME, Rodriguez S, Safa RN, Sawyer DB, Schreiner PJ, Simpson C, Sivapalaratnam S, Srinivasan SR, Suver C, Swergold G, Sweitzer NK, Thomas KA, Thorand B, Timpson NJ, Tischfield S, Tobin M, Tomaszewski M, Verschuren WM, Wallace C, Winkelmann B, Zhang H, Zheng D, Zhang L, Zmuda JM, Clarke R, Balmforth AJ, Danesh J, Day IN, Schork NJ, de Bakker PI, Delles C, Duggan D, Hingorani AD, Hirschhorn JN, Hofker MH, Humphries SE, Kivimaki M, Lawlor DA, Kottke-Marchant K, Mega JL, Mitchell BD, Morrow DA, Palmen J, Redline S, Shields DC, Shuldiner AR, Sleiman PM, Smith GD, Farrall M, Jamshidi Y, Christiani DC, Casas JP, Hall AS, Doevendans PA, Christie JD, Berenson GS, Murray SS, Illig T, Dorn GW 2nd, Cappola TP, Boerwinkle E, Sever P, Rader DJ, Reilly MP, Caulfield M, Talmud PJ, Topol E, Engert JC, Wang K, Dominiczak A, Hamsten A, Curtis SP, Silverstein RL, Lange LA, Sabatine MS, Trip M, Saleheen D, Peden JF, Cruickshanks KJ, März W, O'Connell JR, Klungel OH, Wijmenga C, Maitland-van der Zee AH, Schadt EE, Johnson JA, Jarvik GP, Papanicolaou GJ; Hugh Watkins on behalf of PROCARDIS, Grant SF, Munroe PB, North KE, Samani NJ, Koenig W, Gaunt TR, Anand SS, van der Schouw YT; Meena Kumari on behalf of the Whitehall II Study and the WHII 50K Group, Soranzo N, Fitzgerald GA, Reiner A, Hegele RA, Hakonarson H, Keating BJ.

Am J Hum Genet. 2011 Jan 7;88(1):6-18. doi: 10.1016/j.ajhg.2010.11.007. Epub 2010 Dec 30. Erratum in: Am J Hum Genet. 2012 Jun 8;90(6):1117. Tomaszweski, Maciej [corrected to Tomaszewski, Maciej].

45.

Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder.

Glessner JT, Wang K, Sleiman PM, Zhang H, Kim CE, Flory JH, Bradfield JP, Imielinski M, Frackelton EC, Qiu H, Mentch F, Grant SF, Hakonarson H.

PLoS One. 2010 Dec 1;5(12):e15463. doi: 10.1371/journal.pone.0015463.

46.

A genome-wide study reveals copy number variants exclusive to childhood obesity cases.

Glessner JT, Bradfield JP, Wang K, Takahashi N, Zhang H, Sleiman PM, Mentch FD, Kim CE, Hou C, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Zhao J, Chiavacci RM, Li M, Buxbaum JD, Berkowitz RI, Hakonarson H, Grant SF.

Am J Hum Genet. 2010 Nov 12;87(5):661-6. doi: 10.1016/j.ajhg.2010.09.014. Epub 2010 Oct 14.

47.

A genome-wide scan for common alleles affecting risk for autism.

Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J.

Hum Mol Genet. 2010 Oct 15;19(20):4072-82. doi: 10.1093/hmg/ddq307. Epub 2010 Jul 27.

48.

Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population.

St Pourcain B, Wang K, Glessner JT, Golding J, Steer C, Ring SM, Skuse DH, Grant SF, Hakonarson H, Davey Smith G.

Am J Psychiatry. 2010 Nov;167(11):1364-72. doi: 10.1176/appi.ajp.2010.09121789. Epub 2010 Jul 15. Erratum in: Am J Psychiatry. 2010 Oct;167(10):1283. Smith, George D [corrected to Davey Smith, George].

49.

Large copy-number variations are enriched in cases with moderate to extreme obesity.

Wang K, Li WD, Glessner JT, Grant SF, Hakonarson H, Price RA.

Diabetes. 2010 Oct;59(10):2690-4. doi: 10.2337/db10-0192. Epub 2010 Jul 9.

50.

Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum.

Lantieri F, Glessner JT, Hakonarson H, Elia J, Devoto M.

Am J Med Genet B Neuropsychiatr Genet. 2010 Sep;153B(6):1127-33. doi: 10.1002/ajmg.b.31110.

PMID:
20607790

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