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Items: 1 to 50 of 74

1.

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.

Li D, March ME, Gutierrez-Uzquiza A, Kao C, Seiler C, Pinto E, Matsuoka LS, Battig MR, Bhoj EJ, Wenger TL, Tian L, Robinson N, Wang T, Liu Y, Weinstein BM, Swift M, Jung HM, Kaminski CN, Chiavacci R, Perkins JA, Levine MA, Sleiman PMA, Hicks PJ, Strausbaugh JT, Belasco JB, Dori Y, Hakonarson H.

Nat Med. 2019 Jul;25(7):1116-1122. doi: 10.1038/s41591-019-0479-2. Epub 2019 Jul 1.

PMID:
31263281
2.

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.

Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, Bakay M, Pellegrino da Silva R, Perkins JA, Sleiman P, Levine MA, Hicks PJ, Itkin M, Dori Y, Hakonarson H.

Hum Mol Genet. 2018 Sep 15;27(18):3233-3245. doi: 10.1093/hmg/ddy218.

PMID:
29905864
3.

Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling.

Elia J, Ungal G, Kao C, Ambrosini A, De Jesus-Rosario N, Larsen L, Chiavacci R, Wang T, Kurian C, Titchen K, Sykes B, Hwang S, Kumar B, Potts J, Davis J, Malatack J, Slattery E, Moorthy G, Zuppa A, Weller A, Byrne E, Li YR, Kraft WK, Hakonarson H.

Nat Commun. 2018 Jan 16;9(1):4. doi: 10.1038/s41467-017-02244-2.

4.

Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim CE, Li J, Wang F, Snyder J, Lemma M, Hou C, Wei Z, Guo Y, Qiu H, Mentch FD, Thomas KA, Chiavacci RM, Cone R, Li B, Sleiman PA; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Price Foundation Collaborative Group, Hakonarson H.

Sci Rep. 2017 Aug 21;7(1):8379. doi: 10.1038/s41598-017-06409-3.

5.

A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim CE, Li J, Wang F, Snyder J, Lemma M, Hou C, Wei Z, Guo Y, Qiu H, Mentch FD, Thomas KA, Chiavacci RM, Cone R, Li B, Sleiman PA; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Price Foundation Collaborative Group, Hakonarson H.

Sci Rep. 2017 Jun 19;7(1):3847. doi: 10.1038/s41598-017-01674-8. Erratum in: Sci Rep. 2017 Aug 21;7(1):8379.

6.

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.

Cardinale CJ, Li D, Tian L, Connolly JJ, March ME, Hou C, Wang F, Snyder J, Kim CE, Chiavacci RM, Sleiman PM, Burnham JM, Hakonarson H.

BMC Musculoskelet Disord. 2016 Nov 9;17(1):462.

7.

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.

Wang Y, Li J, Kolon TF, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Stabley D, Kim CE, Sol-Church K, Hakonarson H, Devoto M, Barthold JS.

BMC Urol. 2016 Oct 21;16(1):62.

8.

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ.

Am J Hum Genet. 2016 Oct 6;99(4):802-816. doi: 10.1016/j.ajhg.2016.07.013. Epub 2016 Sep 8.

9.

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

Li D, Bhoj E, McCormick E, Wang F, Snyder J, Wang T, Zhao Y, Kim C, Chiavacci R, Tian L, Falk MJ, Hakonarson H.

Case Rep Genet. 2016;2016:4140780. doi: 10.1155/2016/4140780. Epub 2016 Mar 16.

10.

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.

11.

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

Desai A, Connolly JJ, March M, Hou C, Chiavacci R, Kim C, Lyon G, Hadley D, Hakonarson H.

BMC Musculoskelet Disord. 2016 Feb 16;17:80. doi: 10.1186/s12891-016-0936-8.

12.

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA, Kim JH, Crosslin DR, Jarvik GP, Carrell DS, Ralston JD, Larson EB, Bielinski SJ, Olson JE, Ye Z, Kullo IJ, Abul-Husn NS, Scott SA, Bottinger E, Almoguera B, Connolly J, Chiavacci R, Hakonarson H, Rasmussen-Torvik LJ, Pan V, Persell SD, Smith M, Chisholm RL, Kitchner TE, He MM, Brilliant MH, Wallace JR, Doheny KF, Shoemaker MB, Li R, Manolio TA, Callis TE, Macaya D, Williams MS, Carey D, Kapplinger JD, Ackerman MJ, Ritchie MD, Denny JC, Roden DM.

JAMA. 2016 Jan 5;315(1):47-57. doi: 10.1001/jama.2015.17701.

13.

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 SFA, Sleiman PMA, 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.

14.

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.

15.

Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.

Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzaléz R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Kim CE, Li J, Hakonarson H, Devoto M.

Hum Reprod. 2015 Oct;30(10):2439-51. doi: 10.1093/humrep/dev180. Epub 2015 Jul 24.

16.

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.

17.

The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative.

Calkins ME, Merikangas KR, Moore TM, Burstein M, Behr MA, Satterthwaite TD, Ruparel K, Wolf DH, Roalf DR, Mentch FD, Qiu H, Chiavacci R, Connolly JJ, Sleiman PMA, Gur RC, Hakonarson H, Gur RE.

J Child Psychol Psychiatry. 2015 Dec;56(12):1356-1369. doi: 10.1111/jcpp.12416. Epub 2015 Apr 8.

18.

The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.

Satterthwaite TD, Connolly JJ, Ruparel K, Calkins ME, Jackson C, Elliott MA, Roalf DR, Hopson R, Prabhakaran K, Behr M, Qiu H, Mentch FD, Chiavacci R, Sleiman PMA, Gur RC, Hakonarson H, Gur RE.

Neuroimage. 2016 Jan 1;124(Pt B):1115-1119. doi: 10.1016/j.neuroimage.2015.03.056. Epub 2015 Mar 31.

19.

Comorbidity of physical and mental disorders in the neurodevelopmental genomics cohort study.

Merikangas KR, Calkins ME, Burstein M, He JP, Chiavacci R, Lateef T, Ruparel K, Gur RC, Lehner T, Hakonarson H, Gur RE.

Pediatrics. 2015 Apr;135(4):e927-38. doi: 10.1542/peds.2014-1444. Epub 2015 Mar 9.

20.

Body mass index (BMI) trajectories in infancy differ by population ancestry and may presage disparities in early childhood obesity.

Roy SM, Chesi A, Mentch F, Xiao R, Chiavacci R, Mitchell JA, Kelly A, Hakonarson H, Grant SF, Zemel BS, McCormack SE.

J Clin Endocrinol Metab. 2015 Apr;100(4):1551-60. doi: 10.1210/jc.2014-4028. Epub 2015 Jan 30.

21.

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH.

J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20.

22.

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.

Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Kim CE, Mateson AB, Robbins AK, Li J, Akins RE Jr, Hakonarson H, Devoto M.

J Urol. 2015 May;193(5):1637-45. doi: 10.1016/j.juro.2014.10.097. Epub 2014 Oct 25.

23.

The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort.

Calkins ME, Moore TM, Merikangas KR, Burstein M, Satterthwaite TD, Bilker WB, Ruparel K, Chiavacci R, Wolf DH, Mentch F, Qiu H, Connolly JJ, Sleiman PA, Hakonarson H, Gur RC, Gur RE.

World Psychiatry. 2014 Oct;13(3):296-305. doi: 10.1002/wps.20152.

24.

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F, Hakonarson H.

JIMD Rep. 2014;14:119. doi: 10.1007/8904_2014_314. Epub 2014 Jun 29. No abstract available.

25.

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H.

JIMD Rep. 2014;14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11. Erratum in: JIMD Rep. 2014;14:119.

26.

Gene network analysis in a pediatric cohort identifies novel lung function genes.

Ong BA, Li J, McDonough JM, Wei Z, Kim C, Chiavacci R, Mentch F, Caboot JB, Spergel J, Allen JL, Sleiman PM, Hakonarson H.

PLoS One. 2013 Sep 2;8(9):e72899. doi: 10.1371/journal.pone.0072899. eCollection 2013.

27.

Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease.

Cardinale CJ, Wei Z, Panossian S, Wang F, Kim CE, Mentch FD, Chiavacci RM, Kachelries KE, Pandey R, Grant SF, Baldassano RN, Hakonarson H.

Genes Immun. 2013 Oct;14(7):447-52. doi: 10.1038/gene.2013.43. Epub 2013 Aug 22.

PMID:
23965943
28.

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.

29.

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.

30.

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.

31.

Common variants at 12q15 and 12q24 are associated with infant head circumference.

Taal HR, Pourcain BS, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Møller E, Bradfield JP, Freathy RM, Geller F, Guxens M, Cousminer DL, Kerkhof M, Timpson NJ, Ikram MA, Beilin LJ, Bønnelykke K, Buxton JL, Charoen P, Chawes BLK, Eriksson J, Evans DM, Hofman A, Kemp JP, Kim CE, Klopp N, Lahti J, Lye SJ, McMahon G, Mentch FD, Müller M, O'Reilly PF, Prokopenko I, Rivadeneira F, Steegers EAP, Sunyer J, Tiesler C, Yaghootkar H; Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium, Breteler MMB, Debette S, Fornage M, Gudnason V, Launer LJ, van der Lugt A, Mosley TH, Seshadri S, Smith AV, Vernooij MW; Early Genetics & Lifecourse Epidemiology (EAGLE) consortium, Blakemore AI, Chiavacci RM, Feenstra B, Fernandez-Benet J, Grant SFA, Hartikainen AL, van der Heijden AJ, Iñiguez C, Lathrop M, McArdle WL, Mølgaard A, Newnham JP, Palmer LJ, Palotie A, Pouta A, Ring SM, Sovio U, Standl M, Uitterlinden AG, Wichmann HE, Vissing NH, DeCarli C, van Duijn CM, McCarthy MI, Koppelman GH, Estivill X, Hattersley AT, Melbye M, Bisgaard H, Pennell CE, Widen E, Hakonarson H, Smith GD, Heinrich J, Jarvelin MR; Early Growth Genetics (EGG) Consortium, Jaddoe VWV.

Nat Genet. 2012 Apr 15;44(5):532-538. doi: 10.1038/ng.2238. Erratum in: Nat Genet. 2013 June;45(6):713. Sørensen, Thorkild I A [removed].

32.

Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21.

Gur RC, Richard J, Calkins ME, Chiavacci R, Hansen JA, Bilker WB, Loughead J, Connolly JJ, Qiu H, Mentch FD, Abou-Sleiman PM, Hakonarson H, Gur RE.

Neuropsychology. 2012 Mar;26(2):251-265. doi: 10.1037/a0026712. Epub 2012 Jan 16.

33.

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.

34.

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.

35.

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2, Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F, Jayakumar A, Martin R, Leslie S, Hawkins S, Giannoulatou E, D'alfonso S, Blackburn H, Martinelli Boneschi F, Liddle J, Harbo HF, Perez ML, Spurkland A, Waller MJ, Mycko MP, Ricketts M, Comabella M, Hammond N, Kockum I, McCann OT, Ban M, Whittaker P, Kemppinen A, Weston P, Hawkins C, Widaa S, Zajicek J, Dronov S, Robertson N, Bumpstead SJ, Barcellos LF, Ravindrarajah R, Abraham R, Alfredsson L, Ardlie K, Aubin C, Baker A, Baker K, Baranzini SE, Bergamaschi L, Bergamaschi R, Bernstein A, Berthele A, Boggild M, Bradfield JP, Brassat D, Broadley SA, Buck D, Butzkueven H, Capra R, Carroll WM, Cavalla P, Celius EG, Cepok S, Chiavacci R, Clerget-Darpoux F, Clysters K, Comi G, Cossburn M, Cournu-Rebeix I, Cox MB, Cozen W, Cree BA, Cross AH, Cusi D, Daly MJ, Davis E, de Bakker PI, Debouverie M, D'hooghe MB, Dixon K, Dobosi R, Dubois B, Ellinghaus D, Elovaara I, Esposito F, Fontenille C, Foote S, Franke A, Galimberti D, Ghezzi A, Glessner J, Gomez R, Gout O, Graham C, Grant SF, Guerini FR, Hakonarson H, Hall P, Hamsten A, Hartung HP, Heard RN, Heath S, Hobart J, Hoshi M, Infante-Duarte C, Ingram G, Ingram W, Islam T, Jagodic M, Kabesch M, Kermode AG, Kilpatrick TJ, Kim C, Klopp N, Koivisto K, Larsson M, Lathrop M, Lechner-Scott JS, Leone MA, Leppä V, Liljedahl U, Bomfim IL, Lincoln RR, Link J, Liu J, Lorentzen AR, Lupoli S, Macciardi F, Mack T, Marriott M, Martinelli V, Mason D, McCauley JL, Mentch F, Mero IL, Mihalova T, Montalban X, Mottershead J, Myhr KM, Naldi P, Ollier W, Page A, Palotie A, Pelletier J, Piccio L, Pickersgill T, Piehl F, Pobywajlo S, Quach HL, Ramsay PP, Reunanen M, Reynolds R, Rioux JD, Rodegher M, Roesner S, Rubio JP, Rückert IM, Salvetti M, Salvi E, Santaniello A, Schaefer CA, Schreiber S, Schulze C, Scott RJ, Sellebjerg F, Selmaj KW, Sexton D, Shen L, Simms-Acuna B, Skidmore S, Sleiman PM, Smestad C, Sørensen PS, Søndergaard HB, Stankovich J, Strange RC, Sulonen AM, Sundqvist E, Syvänen AC, Taddeo F, Taylor B, Blackwell JM, Tienari P, Bramon E, Tourbah A, Brown MA, Tronczynska E, Casas JP, Tubridy N, Corvin A, Vickery J, Jankowski J, Villoslada P, Markus HS, Wang K, Mathew CG, Wason J, Palmer CN, Wichmann HE, Plomin R, Willoughby E, Rautanen A, Winkelmann J, Wittig M, Trembath RC, Yaouanq J, Viswanathan AC, Zhang H, Wood NW, Zuvich R, Deloukas P, Langford C, Duncanson A, Oksenberg JR, Pericak-Vance MA, Haines JL, Olsson T, Hillert J, Ivinson AJ, De Jager PL, Peltonen L, Stewart GJ, Hafler DA, Hauser SL, McVean G, Donnelly P, Compston A.

Nature. 2011 Aug 10;476(7359):214-9. doi: 10.1038/nature10251.

36.

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.

37.

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.

38.

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.

39.

Integrative genomics identifies LMO1 as a neuroblastoma oncogene.

Wang K, Diskin SJ, Zhang H, Attiyeh EF, Winter C, Hou C, Schnepp RW, Diamond M, Bosse K, Mayes PA, Glessner J, Kim C, Frackelton E, Garris M, Wang Q, Glaberson W, Chiavacci R, Nguyen L, Jagannathan J, Saeki N, Sasaki H, Grant SF, Iolascon A, Mosse YP, Cole KA, Li H, Devoto M, McGrady PW, London WB, Capasso M, Rahman N, Hakonarson H, Maris JM.

Nature. 2011 Jan 13;469(7329):216-20. doi: 10.1038/nature09609. Epub 2010 Dec 1.

40.

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.

41.

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.

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

BMC Med Genet. 2010 Jun 14;11:96. doi: 10.1186/1471-2350-11-96.

42.

Strong synaptic transmission impact by copy number variations in schizophrenia.

Glessner JT, Reilly MP, Kim CE, Takahashi N, Albano A, Hou C, Bradfield JP, Zhang H, Sleiman PM, Flory JH, Imielinski M, Frackelton EC, Chiavacci R, Thomas KA, Garris M, Otieno FG, Davidson M, Weiser M, Reichenberg A, Davis KL, Friedman JI, Cappola TP, Margulies KB, Rader DJ, Grant SF, Buxbaum JD, Gur RE, Hakonarson H.

Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10584-9. doi: 10.1073/pnas.1000274107. Epub 2010 May 20.

43.

Common variants at 5q22 associate with pediatric eosinophilic esophagitis.

Rothenberg ME, Spergel JM, Sherrill JD, Annaiah K, Martin LJ, Cianferoni A, Gober L, Kim C, Glessner J, Frackelton E, Thomas K, Blanchard C, Liacouras C, Verma R, Aceves S, Collins MH, Brown-Whitehorn T, Putnam PE, Franciosi JP, Chiavacci RM, Grant SF, Abonia JP, Sleiman PM, Hakonarson H.

Nat Genet. 2010 Apr;42(4):289-91. doi: 10.1038/ng.547. Epub 2010 Mar 7.

44.

Variants of DENND1B associated with asthma in children.

Sleiman PM, Flory J, Imielinski M, Bradfield JP, Annaiah K, Willis-Owen SA, Wang K, Rafaels NM, Michel S, Bonnelykke K, Zhang H, Kim CE, Frackelton EC, Glessner JT, Hou C, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson WR, Garris M, Chiavacci RM, Beaty TH, Ruczinski I, Orange JS, Allen J, Spergel JM, Grundmeier R, Mathias RA, Christie JD, von Mutius E, Cookson WO, Kabesch M, Moffatt MF, Grunstein MM, Barnes KC, Devoto M, Magnusson M, Li H, Grant SF, Bisgaard H, Hakonarson H.

N Engl J Med. 2010 Jan 7;362(1):36-44. doi: 10.1056/NEJMoa0901867. Epub 2009 Dec 23. Erratum in: N Engl J Med. 2010 Sep 2;363(10):994. N Engl J Med. 2012 Feb 16;366(7):672. Orange, Jordan M [corrected to Orange, Jordan S].

45.

Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.

Zhao J, Bradfield JP, Zhang H, Annaiah K, Wang K, Kim CE, Glessner JT, Frackelton EC, Otieno FG, Doran J, Thomas KA, Garris M, Hou C, Chiavacci RM, Li M, Berkowitz RI, Hakonarson H, Grant SF.

Diabetes. 2010 Mar;59(3):751-5. doi: 10.2337/db09-0972. Epub 2009 Nov 23.

46.

Common variants at five new loci associated with early-onset inflammatory bowel disease.

Imielinski M, Baldassano RN, Griffiths A, Russell RK, Annese V, Dubinsky M, Kugathasan S, Bradfield JP, Walters TD, Sleiman P, Kim CE, Muise A, Wang K, Glessner JT, Saeed S, Zhang H, Frackelton EC, Hou C, Flory JH, Otieno G, Chiavacci RM, Grundmeier R, Castro M, Latiano A, Dallapiccola B, Stempak J, Abrams DJ, Taylor K, McGovern D; Western Regional Alliance for Pediatric IBD, Silber G, Wrobel I, Quiros A; International IBD Genetics Consortium, Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmuda MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, Kistner EO, Murtha MT, Regueiro MD, Rotter JI, Schumm LP, Steinhart AH, Targan SR, Xavier RJ; NIDDK IBD Genetics Consortium, Libioulle C, Sandor C, Lathrop M, Belaiche J, Dewit O, Gut I, Heath S, Laukens D, Mni M, Rutgeerts P, Van Gossum A, Zelenika D, Franchimont D, Hugot JP, de Vos M, Vermeire S, Louis E; Belgian-French IBD Consortium; Wellcome Trust Case Control Consortium, Cardon LR, Anderson CA, Drummond H, Nimmo E, Ahmad T, Prescott NJ, Onnie CM, Fisher SA, Marchini J, Ghori J, Bumpstead S, Gwillam R, Tremelling M, Delukas P, Mansfield J, Jewell D, Satsangi J, Mathew CG, Parkes M, Georges M, Daly MJ, Heyman MB, Ferry GD, Kirschner B, Lee J, Essers J, Grand R, Stephens M, Levine A, Piccoli D, Van Limbergen J, Cucchiara S, Monos DS, Guthery SL, Denson L, Wilson DC, Grant SF, Daly M, Silverberg MS, Satsangi J, Hakonarson H.

Nat Genet. 2009 Dec;41(12):1335-40. doi: 10.1038/ng.489. Epub 2009 Nov 15.

47.

From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes.

Wei Z, Wang K, Qu HQ, Zhang H, Bradfield J, Kim C, Frackleton E, Hou C, Glessner JT, Chiavacci R, Stanley C, Monos D, Grant SF, Polychronakos C, Hakonarson H.

PLoS Genet. 2009 Oct;5(10):e1000678. doi: 10.1371/journal.pgen.1000678. Epub 2009 Oct 9.

48.

17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry.

Flory JH, Sleiman PM, Christie JD, Annaiah K, Bradfield J, Kim CE, Glessner J, Imielinski M, Li H, Frackelton EC, Cuiping H, Otieno G, Thomas K, Smith R, Glaberson W, Garris M, Chiavacci R, Allen J, Spergel J, Grundmeier R, Grunstein M, Magnusson M, Grant SF, Bønnelykke K, Bisgaard H, Hakonarson H.

J Allergy Clin Immunol. 2009 Sep;124(3):605-7. doi: 10.1016/j.jaci.2009.05.047. Epub 2009 Aug 5. No abstract available.

PMID:
19660801
49.

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

Grant SF, Wang K, Zhang H, Glaberson W, Annaiah K, Kim CE, Bradfield JP, Glessner JT, Thomas KA, Garris M, Frackelton EC, Otieno FG, Chiavacci RM, Nah HD, Kirschner RE, Hakonarson H.

J Pediatr. 2009 Dec;155(6):909-13. doi: 10.1016/j.jpeds.2009.06.020. Epub 2009 Aug 4.

PMID:
19656524
50.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H.

Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10.

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