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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H.
Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31.
PMID: 32738225 Free PMC article.
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Neuray C, Maroofian R, Scala M, Sultan T, Pai GS, Mojarrad M, El Khashab H, deHoll L, Yue W, Alsaif HS, Zanetti MN, Bello O, Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S; SYNaPS Study Group, El-Bassyouni HT, Soliman DR, Tekes S, Ozer L, Baltaci V, Khan S, Beetz C, Amr KS, Salpietro V, Jamshidi Y, Alkuraya FS, Houlden H.
Brain. 2020 Jul 23:anaa031. doi: 10.1093/brain/awaa178. Online ahead of print.
PMID: 32705143
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Causal graphs for the analysis of genetic cohort data.
Hines O, Diaz-Ordaz K, Vansteelandt S, Jamshidi Y.
Physiol Genomics. 2020 Jul 20. doi: 10.1152/physiolgenomics.00115.2019. Online ahead of print.
PMID: 32687429
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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.
Scala M, Chua GL, Chin CF, Alsaif HS, Borovikov A, Riazuddin S, Riazuddin S, Chiara Manzini M, Severino M, Kuk A, Fan H, Jamshidi Y, Toosi MB, Doosti M, Karimiani EG, Salpietro V, Dadali E, Baydakova G, Konovalov F, Lozier E, O'Connor E, Sabr Y, Alfaifi A, Ashrafzadeh F, Striano P, Zara F, Alkuraya FS, Houlden H, Maroofian R, Silver DL.
Eur J Hum Genet. 2020 Jun 22. doi: 10.1038/s41431-020-0669-x. Online ahead of print.
PMID: 32572202
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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.
Ntalla I, Weng LC, Cartwright JH, Hall AW, Sveinbjornsson G, Tucker NR, Choi SH, Chaffin MD, Roselli C, Barnes MR, Mifsud B, Warren HR, Hayward C, Marten J, Cranley JJ, Concas MP, Gasparini P, Boutin T, Kolcic I, Polasek O, Rudan I, Araujo NM, Lima-Costa MF, Ribeiro ALP, Souza RP, Tarazona-Santos E, Giedraitis V, Ingelsson E, Mahajan A, Morris AP, Del Greco M F, Foco L, Gögele M, Hicks AA, Cook JP, Lind L, Lindgren CM, Sundström J, Nelson CP, Riaz MB, Samani NJ, Sinagra G, Ulivi S, Kähönen M, Mishra PP, Mononen N, Nikus K, Caulfield MJ, Dominiczak A, Padmanabhan S, Montasser ME, O'Connell JR, Ryan K, Shuldiner AR, Aeschbacher S, Conen D, Risch L, Thériault S, Hutri-Kähönen N, Lehtimäki T, Lyytikäinen LP, Raitakari OT, Barnes CLK, Campbell H, Joshi PK, Wilson JF, Isaacs A, Kors JA, van Duijn CM, Huang PL, Gudnason V, Harris TB, Launer LJ, Smith AV, Bottinger EP, Loos RJF, Nadkarni GN, Preuss MH, Correa A, Mei H, Wilson J, Meitinger T, Müller-Nurasyid M, Peters A, Waldenberger M, Mangino M, Spector TD, Rienstra M, van de Vegte YJ, van der Harst P, Verweij N, Kääb S, Schramm K, Sinner MF, Strauch K, Cutler MJ, Fatkin D, London B, Olesen M, Roden DM, Benjamin Shoemaker M, Gustav Smith J, Biggs ML, Bis JC, Brody JA, Psaty BM, Rice K, Sotoodehnia N, De Grandi A, Fuchsberger C, Pattaro C, Pramstaller PP, Ford I, Wouter Jukema J, Macfarlane PW, Trompet S, Dörr M, Felix SB, Völker U, Weiss S, Havulinna AS, Jula A, Sääksjärvi K, Salomaa V, Guo X, Heckbert SR, Lin HJ, Rotter JI, Taylor KD, Yao J, de Mutsert R, Maan AC, Mook-Kanamori DO, Noordam R, Cucca F, Ding J, Lakatta EG, Qian Y, Tarasov KV, Levy D, Lin H, Newton-Cheh CH, Lunetta KL, Murray AD, Porteous DJ, Smith BH, Stricker BH, Uitterlinden A, van den Berg ME, Haessler J, Jackson RD, Kooperberg C, Peters U, Reiner AP, Whitsel EA, Alonso A, Arking DE, Boerwinkle E, Ehret GB, Soliman EZ, Avery CL, Gogarten SM, Kerr KF, Laurie CC, Seyerle AA, Stilp A, Assa S, Abdullah Said M, Yldau van der Ende M, Lambiase PD, Orini M, Ramirez J, Van Duijvenboden S, Arnar DO, Gudbjartsson DF, Holm H, Sulem P, Thorleifsson G, Thorolfsdottir RB, Thorsteinsdottir U, Benjamin EJ, Tinker A, Stefansson K, Ellinor PT, Jamshidi Y, Lubitz SA, Munroe PB.
Nat Commun. 2020 May 21;11(1):2542. doi: 10.1038/s41467-020-15706-x.
PMID: 32439900 Free PMC article.
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Interleukin-6 Signaling Effects on Ischemic Stroke and Other Cardiovascular Outcomes: A Mendelian Randomization Study.
Georgakis MK, Malik R, Gill D, Franceschini N, Sudlow CLM, Dichgans M; INVENT Consortium,CHARGE Inflammation Working Group.
Circ Genom Precis Med. 2020 Jun;13(3):e002872. doi: 10.1161/CIRCGEN.119.002872. Epub 2020 May 12.
PMID: 32397738 Free PMC article. No abstract available.
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Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia.
Babakhanzadeh E, Khodadadian A, Rostami S, Alipourfard I, Aghaei M, Nazari M, Hosseinnia M, Mehrjardi MYV, Jamshidi Y, Ghasemi N.
BMC Med Genet. 2020 Feb 14;21(1):33. doi: 10.1186/s12881-020-0970-0.
PMID: 32059713 Free PMC article.
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Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Wang H, Kaçar Bayram A, Sprute R, Ozdemir O, Cooper E, Pergande M, Efthymiou S, Nedic I, Mazaheri N, Stumpfe K, Azizi Malamiri R, Shariati G, Zeighami J, Bayram N, Naghibzadeh SK, Tajik M, Yaşar M, Sami Güven A, Bibi F, Sultan T, Salpietro V, Houlden H, Per H, Galehdari H, Shalbafan B, Jamshidi Y, Cirak S.
Front Neurosci. 2019 Oct 14;13:974. doi: 10.3389/fnins.2019.00974. eCollection 2019.
PMID: 31680794 Free PMC article.
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Müller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schüle R.
Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9.
PMID: 31636353 Free PMC article.
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KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern.
Teumer A, Trenkwalder T, Kessler T, Jamshidi Y, van den Berg ME, Kaess B, Nelson CP, Bastiaenen R, De Bortoli M, Rossini A, Deisenhofer I, Stark K, Assa S, Braund PS, Cabrera C, Dominiczak AF, Gögele M, Hall LM, Ikram MA, Kavousi M, Lackner KJ; Lifelines Cohort Study, Müller C, Münzel T, Nauck M, Padmanabhan S, Pfeiffer N, Spector TD, Uitterlinden AG, Verweij N, Völker U, Warren HR, Zafar M, Felix SB, Kors JA, Snieder H, Munroe PB, Pattaro C, Fuchsberger C, Schmidt G, Nolte IM, Schunkert H, Pramstaller PP, Wild PS, van der Harst P, Stricker BH, Schnabel RB, Samani NJ, Hengstenberg C, Dörr M, Behr ER, Reinhard W.
JCI Insight. 2019 Dec 5;4(23):e131156. doi: 10.1172/jci.insight.131156.
PMID: 31600170 Free PMC article.
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Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG.
Am J Hum Genet. 2019 Oct 3;105(4):844-853. doi: 10.1016/j.ajhg.2019.08.013.
PMID: 31585108 Free PMC article.
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Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP.
Sci Rep. 2019 Jun 21;9(1):9038. doi: 10.1038/s41598-019-44987-6.
PMID: 31227780 Free PMC article.
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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.
Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.
PMID: 30982612 Free PMC article.
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Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Hedberg-Oldfors C, Abramsson A, Osborn DPS, Danielsson O, Fazlinezhad A, Nilipour Y, Hübbert L, Nennesmo I, Visuttijai K, Bharj J, Petropoulou E, Shoreim A, Vona B, Ahangari N, López MD, Doosti M, Banote RK, Maroofian R, Edling M, Taherpour M, Zetterberg H, Karimiani EG, Oldfors A, Jamshidi Y.
Hum Mol Genet. 2019 Jun 1;28(11):1919-1929. doi: 10.1093/hmg/ddz032.
PMID: 30715372 Free PMC article.
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Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.
van Setten J, Verweij N, Mbarek H, Niemeijer MN, Trompet S, Arking DE, Brody JA, Gandin I, Grarup N, Hall LM, Hemerich D, Lyytikäinen LP, Mei H, Müller-Nurasyid M, Prins BP, Robino A, Smith AV, Warren HR, Asselbergs FW, Boomsma DI, Caulfield MJ, Eijgelsheim M, Ford I, Hansen T, Harris TB, Heckbert SR, Hottenga JJ, Iorio A, Kors JA, Linneberg A, MacFarlane PW, Meitinger T, Nelson CP, Raitakari OT, Silva Aldana CT, Sinagra G, Sinner M, Soliman EZ, Stoll M, Uitterlinden A, van Duijn CM, Waldenberger M, Alonso A, Gasparini P, Gudnason V, Jamshidi Y, Kääb S, Kanters JK, Lehtimäki T, Munroe PB, Peters A, Samani NJ, Sotoodehnia N, Ulivi S, Wilson JG, de Geus EJC, Jukema JW, Stricker B, van der Harst P, de Bakker PIW, Isaacs A.
Eur J Hum Genet. 2019 Jun;27(6):952-962. doi: 10.1038/s41431-018-0295-z. Epub 2019 Jan 24.
PMID: 30679814 Free PMC article. Clinical Trial.
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Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ; UK10K consortium, Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B.
Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x.
PMID: 30664637 Free PMC article.
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Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.
Ligthart S, Vaez A, Võsa U, Stathopoulou MG, de Vries PS, Prins BP, Van der Most PJ, Tanaka T, Naderi E, Rose LM, Wu Y, Karlsson R, Barbalic M, Lin H, Pool R, Zhu G, Macé A, Sidore C, Trompet S, Mangino M, Sabater-Lleal M, Kemp JP, Abbasi A, Kacprowski T, Verweij N, Smith AV, Huang T, Marzi C, Feitosa MF, Lohman KK, Kleber ME, Milaneschi Y, Mueller C, Huq M, Vlachopoulou E, Lyytikäinen LP, Oldmeadow C, Deelen J, Perola M, Zhao JH, Feenstra B; LifeLines Cohort Study, Amini M; CHARGE Inflammation Working Group, Lahti J, Schraut KE, Fornage M, Suktitipat B, Chen WM, Li X, Nutile T, Malerba G, Luan J, Bak T, Schork N, Del Greco M F, Thiering E, Mahajan A, Marioni RE, Mihailov E, Eriksson J, Ozel AB, Zhang W, Nethander M, Cheng YC, Aslibekyan S, Ang W, Gandin I, Yengo L, Portas L, Kooperberg C, Hofer E, Rajan KB, Schurmann C, den Hollander W, Ahluwalia TS, Zhao J, Draisma HHM, Ford I, Timpson N, Teumer A, Huang H, Wahl S, Liu Y, Huang J, Uh HW, Geller F, Joshi PK, Yanek LR, Trabetti E, Lehne B, Vozzi D, Verbanck M, Biino G, Saba Y, Meulenbelt I, O'Connell JR, Laakso M, Giulianini F, Magnusson PKE, Ballantyne CM, Hottenga JJ, Montgomery GW, Rivadineira F, Rueedi R, Steri M, Herzig KH, Stott DJ, Menni C, Frånberg M, St Pourcain B, Felix SB, Pers TH, Bakker SJL, Kraft P, Peters A, Vaidya D, Delgado G, Smit JH, Großmann V, Sinisalo J, Seppälä I, Williams SR, Holliday EG, Moed M, Langenberg C, Räikkönen K, Ding J, Campbell H, Sale MM, Chen YI, James AL, Ruggiero D, Soranzo N, Hartman CA, Smith EN, Berenson GS, Fuchsberger C, Hernandez D, Tiesler CMT, Giedraitis V, Liewald D, Fischer K, Mellström D, Larsson A, Wang Y, Scott WR, Lorentzon M, Beilby J, Ryan KA, Pennell CE, Vuckovic D, Balkau B, Concas MP, Schmidt R, Mendes de Leon CF, Bottinger EP, Kloppenburg M, Paternoster L, Boehnke M, Musk AW, Willemsen G, Evans DM, Madden PAF, Kähönen M, Kutalik Z, Zoledziewska M, Karhunen V, Kritchevsky SB, Sattar N, Lachance G, Clarke R, Harris TB, Raitakari OT, Attia JR, van Heemst D, Kajantie E, Sorice R, Gambaro G, Scott RA, Hicks AA, Ferrucci L, Standl M, Lindgren CM, Starr JM, Karlsson M, Lind L, Li JZ, Chambers JC, Mori TA, de Geus EJCN, Heath AC, Martin NG, Auvinen J, Buckley BM, de Craen AJM, Waldenberger M, Strauch K, Meitinger T, Scott RJ, McEvoy M, Beekman M, Bombieri C, Ridker PM, Mohlke KL, Pedersen NL, Morrison AC, Boomsma DI, Whitfield JB, Strachan DP, Hofman A, Vollenweider P, Cucca F, Jarvelin MR, Jukema JW, Spector TD, Hamsten A, Zeller T, Uitterlinden AG, Nauck M, Gudnason V, Qi L, Grallert H, Borecki IB, Rotter JI, März W, Wild PS, Lokki ML, Boyle M, Salomaa V, Melbye M, Eriksson JG, Wilson JF, Penninx BWJH, Becker DM, Worrall BB, Gibson G, Krauss RM, Ciullo M, Zaza G, Wareham NJ, Oldehinkel AJ, Palmer LJ, Murray SS, Pramstaller PP, Bandinelli S, Heinrich J, Ingelsson E, Deary IJ, Mägi R, Vandenput L, van der Harst P, Desch KC, Kooner JS, Ohlsson C, Hayward C, Lehtimäki T, Shuldiner AR, Arnett DK, Beilin LJ, Robino A, Froguel P, Pirastu M, Jess T, Koenig W, Loos RJF, Evans DA, Schmidt H, Smith GD, Slagboom PE, Eiriksdottir G, Morris AP, Psaty BM, Tracy RP, Nolte IM, Boerwinkle E, Visvikis-Siest S, Reiner AP, Gross M, Bis JC, Franke L, Franco OH, Benjamin EJ, Chasman DI, Dupuis J, Snieder H, Dehghan A, Alizadeh BZ.
Am J Hum Genet. 2018 Nov 1;103(5):691-706. doi: 10.1016/j.ajhg.2018.09.009.
PMID: 30388399 Free PMC article.
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The narrow-sense and common single nucleotide polymorphism heritability of early repolarization.
Bastiaenen R, Nolte IM, Munroe PB, Riese H, Nelson C, O'Connor H, Gang Y, Warren HR, Cabrera C, Reinhard W, Hengstenberg C, Rijsdijk FV, Spector T, Snieder H, Samani NJ, Jamshidi Y, Behr ER.
Int J Cardiol. 2019 Mar 15;279:135-140. doi: 10.1016/j.ijcard.2018.09.119. Epub 2018 Oct 4.
PMID: 30297186
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PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.
van Setten J, Brody JA, Jamshidi Y, Swenson BR, Butler AM, Campbell H, Del Greco FM, Evans DS, Gibson Q, Gudbjartsson DF, Kerr KF, Krijthe BP, Lyytikäinen LP, Müller C, Müller-Nurasyid M, Nolte IM, Padmanabhan S, Ritchie MD, Robino A, Smith AV, Steri M, Tanaka T, Teumer A, Trompet S, Ulivi S, Verweij N, Yin X, Arnar DO, Asselbergs FW, Bader JS, Barnard J, Bis J, Blankenberg S, Boerwinkle E, Bradford Y, Buckley BM, Chung MK, Crawford D, den Hoed M, Denny JC, Dominiczak AF, Ehret GB, Eijgelsheim M, Ellinor PT, Felix SB, Franco OH, Franke L, Harris TB, Holm H, Ilaria G, Iorio A, Kähönen M, Kolcic I, Kors JA, Lakatta EG, Launer LJ, Lin H, Lin HJ, Loos RJF, Lubitz SA, Macfarlane PW, Magnani JW, Leach IM, Meitinger T, Mitchell BD, Munzel T, Papanicolaou GJ, Peters A, Pfeufer A, Pramstaller PP, Raitakari OT, Rotter JI, Rudan I, Samani NJ, Schlessinger D, Silva Aldana CT, Sinner MF, Smith JD, Snieder H, Soliman EZ, Spector TD, Stott DJ, Strauch K, Tarasov KV, Thorsteinsdottir U, Uitterlinden AG, Van Wagoner DR, Völker U, Völzke H, Waldenberger M, Jan Westra H, Wild PS, Zeller T, Alonso A, Avery CL, Bandinelli S, Benjamin EJ, Cucca F, Dörr M, Ferrucci L, Gasparini P, Gudnason V, Hayward C, Heckbert SR, Hicks AA, Jukema JW, Kääb S, Lehtimäki T, Liu Y, Munroe PB, Parsa A, Polasek O, Psaty BM, Roden DM, Schnabel RB, Sinagra G, Stefansson K, Stricker BH, van der Harst P, van Duijn CM, Wilson JF, Gharib SA, de Bakker PIW, Isaacs A, Arking DE, Sotoodehnia N.
Nat Commun. 2018 Jul 25;9(1):2904. doi: 10.1038/s41467-018-04766-9.
PMID: 30046033 Free PMC article.
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Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.
Prins BP, Mead TJ, Brody JA, Sveinbjornsson G, Ntalla I, Bihlmeyer NA, van den Berg M, Bork-Jensen J, Cappellani S, Van Duijvenboden S, Klena NT, Gabriel GC, Liu X, Gulec C, Grarup N, Haessler J, Hall LM, Iorio A, Isaacs A, Li-Gao R, Lin H, Liu CT, Lyytikäinen LP, Marten J, Mei H, Müller-Nurasyid M, Orini M, Padmanabhan S, Radmanesh F, Ramirez J, Robino A, Schwartz M, van Setten J, Smith AV, Verweij N, Warren HR, Weiss S, Alonso A, Arnar DO, Bots ML, de Boer RA, Dominiczak AF, Eijgelsheim M, Ellinor PT, Guo X, Felix SB, Harris TB, Hayward C, Heckbert SR, Huang PL, Jukema JW, Kähönen M, Kors JA, Lambiase PD, Launer LJ, Li M, Linneberg A, Nelson CP, Pedersen O, Perez M, Peters A, Polasek O, Psaty BM, Raitakari OT, Rice KM, Rotter JI, Sinner MF, Soliman EZ, Spector TD, Strauch K, Thorsteinsdottir U, Tinker A, Trompet S, Uitterlinden A, Vaartjes I, van der Meer P, Völker U, Völzke H, Waldenberger M, Wilson JG, Xie Z, Asselbergs FW, Dörr M, van Duijn CM, Gasparini P, Gudbjartsson DF, Gudnason V, Hansen T, Kääb S, Kanters JK, Kooperberg C, Lehtimäki T, Lin HJ, Lubitz SA, Mook-Kanamori DO, Conti FJ, Newton-Cheh CH, Rosand J, Rudan I, Samani NJ, Sinagra G, Smith BH, Holm H, Stricker BH, Ulivi S, Sotoodehnia N, Apte SS, van der Harst P, Stefansson K, Munroe PB, Arking DE, Lo CW, Jamshidi Y.
Genome Biol. 2018 Jul 17;19(1):87. doi: 10.1186/s13059-018-1457-6.
PMID: 30012220 Free PMC article.
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Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.
Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M.
Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29.
PMID: 29959261 Free PMC article.
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ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.
Bihlmeyer NA, Brody JA, Smith AV, Warren HR, Lin H, Isaacs A, Liu CT, Marten J, Radmanesh F, Hall LM, Grarup N, Mei H, Müller-Nurasyid M, Huffman JE, Verweij N, Guo X, Yao J, Li-Gao R, van den Berg M, Weiss S, Prins BP, van Setten J, Haessler J, Lyytikäinen LP, Li M, Alonso A, Soliman EZ, Bis JC, Austin T, Chen YI, Psaty BM, Harrris TB, Launer LJ, Padmanabhan S, Dominiczak A, Huang PL, Xie Z, Ellinor PT, Kors JA, Campbell A, Murray AD, Nelson CP, Tobin MD, Bork-Jensen J, Hansen T, Pedersen O, Linneberg A, Sinner MF, Peters A, Waldenberger M, Meitinger T, Perz S, Kolcic I, Rudan I, de Boer RA, van der Meer P, Lin HJ, Taylor KD, de Mutsert R, Trompet S, Jukema JW, Maan AC, Stricker BHC, Rivadeneira F, Uitterlinden A, Völker U, Homuth G, Völzke H, Felix SB, Mangino M, Spector TD, Bots ML, Perez M, Raitakari OT, Kähönen M, Mononen N, Gudnason V, Munroe PB, Lubitz SA, van Duijn CM, Newton-Cheh CH, Hayward C, Rosand J, Samani NJ, Kanters JK, Wilson JG, Kääb S, Polasek O, van der Harst P, Heckbert SR, Rotter JI, Mook-Kanamori DO, Eijgelsheim M, Dörr M, Jamshidi Y, Asselbergs FW, Kooperberg C, Lehtimäki T, Arking DE, Sotoodehnia N.
Circ Genom Precis Med. 2018 Jan;11(1):e001758. doi: 10.1161/CIRCGEN.117.001758.
PMID: 29874175 Free PMC article.
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Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval.
Lin H, van Setten J, Smith AV, Bihlmeyer NA, Warren HR, Brody JA, Radmanesh F, Hall L, Grarup N, Müller-Nurasyid M, Boutin T, Verweij N, Lin HJ, Li-Gao R, van den Berg ME, Marten J, Weiss S, Prins BP, Haessler J, Lyytikäinen LP, Mei H, Harris TB, Launer LJ, Li M, Alonso A, Soliman EZ, Connell JM, Huang PL, Weng LC, Jameson HS, Hucker W, Hanley A, Tucker NR, Chen YI, Bis JC, Rice KM, Sitlani CM, Kors JA, Xie Z, Wen C, Magnani JW, Nelson CP, Kanters JK, Sinner MF, Strauch K, Peters A, Waldenberger M, Meitinger T, Bork-Jensen J, Pedersen O, Linneberg A, Rudan I, de Boer RA, van der Meer P, Yao J, Guo X, Taylor KD, Sotoodehnia N, Rotter JI, Mook-Kanamori DO, Trompet S, Rivadeneira F, Uitterlinden A, Eijgelsheim M, Padmanabhan S, Smith BH, Völzke H, Felix SB, Homuth G, Völker U, Mangino M, Spector TD, Bots ML, Perez M, Kähönen M, Raitakari OT, Gudnason V, Arking DE, Munroe PB, Psaty BM, van Duijn CM, Benjamin EJ, Rosand J, Samani NJ, Hansen T, Kääb S, Polasek O, van der Harst P, Heckbert SR, Jukema JW, Stricker BH, Hayward C, Dörr M, Jamshidi Y, Asselbergs FW, Kooperberg C, Lehtimäki T, Wilson JG, Ellinor PT, Lubitz SA, Isaacs A.
Circ Genom Precis Med. 2018 May;11(5):e002037. doi: 10.1161/CIRCGEN.117.002037.
PMID: 29748316 Free PMC article.
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B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
Maroofian R, Riemersma M, Jae LT, Zhianabed N, Willemsen MH, Wissink-Lindhout WM, Willemsen MA, de Brouwer APM, Mehrjardi MYV, Ashrafi MR, Kusters B, Kleefstra T, Jamshidi Y, Nasseri M, Pfundt R, Brummelkamp TR, Abbaszadegan MR, Lefeber DJ, van Bokhoven H.
Genome Med. 2017 Dec 22;9(1):118. doi: 10.1186/s13073-017-0505-2.
PMID: 29273094 Free PMC article.
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A Comparison of Heritability Estimates by Classical Twin Modeling and Based on Genome-Wide Genetic Relatedness for Cardiac Conduction Traits.
Nolte IM, Jansweijer JA, Riese H, Asselbergs FW, van der Harst P, Spector TD, Pinto YM, Snieder H, Jamshidi Y.
Twin Res Hum Genet. 2017 Dec;20(6):489-498. doi: 10.1017/thg.2017.55. Epub 2017 Oct 17.
PMID: 29039294
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Genetic and environmental influences on stability and change in baseline levels of C-reactive protein: A longitudinal twin study.
Sas AA, Vaez A, Jamshidi Y, Nolte IM, Kamali Z, D Spector T, Riese H, Snieder H.
Atherosclerosis. 2017 Oct;265:172-178. doi: 10.1016/j.atherosclerosis.2017.08.008. Epub 2017 Aug 31.
PMID: 28892714
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Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium.
Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8.
PMID: 28663568 Free PMC article.
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Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy.
Petropoulou E, Soltani M, Firoozabadi AD, Namayandeh SM, Crockford J, Maroofian R, Jamshidi Y.
Eur J Med Genet. 2017 Sep;60(9):485-488. doi: 10.1016/j.ejmg.2017.06.008. Epub 2017 Jun 19.
PMID: 28642161
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Multiple roles of integrin-α3 at the neuromuscular junction.
Ross JA, Webster RG, Lechertier T, Reynolds LE, Turmaine M, Bencze M, Jamshidi Y, Cetin H, Muntoni F, Beeson D, Hodilvala-Dilke K, Conti FJ.
J Cell Sci. 2017 May 15;130(10):1772-1784. doi: 10.1242/jcs.201103. Epub 2017 Apr 6.
PMID: 28386022 Free PMC article.
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Discovery of novel heart rate-associated loci using the Exome Chip.
van den Berg ME, Warren HR, Cabrera CP, Verweij N, Mifsud B, Haessler J, Bihlmeyer NA, Fu YP, Weiss S, Lin HJ, Grarup N, Li-Gao R, Pistis G, Shah N, Brody JA, Müller-Nurasyid M, Lin H, Mei H, Smith AV, Lyytikäinen LP, Hall LM, van Setten J, Trompet S, Prins BP, Isaacs A, Radmanesh F, Marten J, Entwistle A, Kors JA, Silva CT, Alonso A, Bis JC, de Boer R, de Haan HG, de Mutsert R, Dedoussis G, Dominiczak AF, Doney ASF, Ellinor PT, Eppinga RN, Felix SB, Guo X, Hagemeijer Y, Hansen T, Harris TB, Heckbert SR, Huang PL, Hwang SJ, Kähönen M, Kanters JK, Kolcic I, Launer LJ, Li M, Yao J, Linneberg A, Liu S, Macfarlane PW, Mangino M, Morris AD, Mulas A, Murray AD, Nelson CP, Orrú M, Padmanabhan S, Peters A, Porteous DJ, Poulter N, Psaty BM, Qi L, Raitakari OT, Rivadeneira F, Roselli C, Rudan I, Sattar N, Sever P, Sinner MF, Soliman EZ, Spector TD, Stanton AV, Stirrups KE, Taylor KD, Tobin MD, Uitterlinden A, Vaartjes I, Hoes AW, van der Meer P, Völker U, Waldenberger M, Xie Z, Zoledziewska M, Tinker A, Polasek O, Rosand J, Jamshidi Y, van Duijn CM, Zeggini E, Jukema JW, Asselbergs FW, Samani NJ, Lehtimäki T, Gudnason V, Wilson J, Lubitz SA, Kääb S, Sotoodehnia N, Caulfield MJ, Palmer CNA, Sanna S, Mook-Kanamori DO, Deloukas P, Pedersen O, Rotter JI, Dörr M, O'Donnell CJ, Hayward C, Arking DE, Kooperberg C, van der Harst P, Eijgelsheim M, Stricker BH, Munroe PB.
Hum Mol Genet. 2017 Jun 15;26(12):2346-2363. doi: 10.1093/hmg/ddx113.
PMID: 28379579 Free PMC article.
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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC.
Am J Hum Genet. 2017 Mar 2;100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9.
PMID: 28190459 Free PMC article.
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Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.
Evans DS, Avery CL, Nalls MA, Li G, Barnard J, Smith EN, Tanaka T, Butler AM, Buxbaum SG, Alonso A, Arking DE, Berenson GS, Bis JC, Buyske S, Carty CL, Chen W, Chung MK, Cummings SR, Deo R, Eaton CB, Fox ER, Heckbert SR, Heiss G, Hindorff LA, Hsueh WC, Isaacs A, Jamshidi Y, Kerr KF, Liu F, Liu Y, Lohman KK, Magnani JW, Maher JF, Mehra R, Meng YA, Musani SK, Newton-Cheh C, North KE, Psaty BM, Redline S, Rotter JI, Schnabel RB, Schork NJ, Shohet RV, Singleton AB, Smith JD, Soliman EZ, Srinivasan SR, Taylor HA Jr, Van Wagoner DR, Wilson JG, Young T, Zhang ZM, Zonderman AB, Evans MK, Ferrucci L, Murray SS, Tranah GJ, Whitsel EA, Reiner AP; CHARGE QRS Consortium, Sotoodehnia N.
Hum Mol Genet. 2016 Oct 1;25(19):4350-4368. doi: 10.1093/hmg/ddw284. Epub 2016 Aug 29.
PMID: 27577874 Free PMC article.
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52 Genetic Loci Influencing Myocardial Mass.
van der Harst P, van Setten J, Verweij N, Vogler G, Franke L, Maurano MT, Wang X, Mateo Leach I, Eijgelsheim M, Sotoodehnia N, Hayward C, Sorice R, Meirelles O, Lyytikäinen LP, Polašek O, Tanaka T, Arking DE, Ulivi S, Trompet S, Müller-Nurasyid M, Smith AV, Dörr M, Kerr KF, Magnani JW, Del Greco M F, Zhang W, Nolte IM, Silva CT, Padmanabhan S, Tragante V, Esko T, Abecasis GR, Adriaens ME, Andersen K, Barnett P, Bis JC, Bodmer R, Buckley BM, Campbell H, Cannon MV, Chakravarti A, Chen LY, Delitala A, Devereux RB, Doevendans PA, Dominiczak AF, Ferrucci L, Ford I, Gieger C, Harris TB, Haugen E, Heinig M, Hernandez DG, Hillege HL, Hirschhorn JN, Hofman A, Hubner N, Hwang SJ, Iorio A, Kähönen M, Kellis M, Kolcic I, Kooner IK, Kooner JS, Kors JA, Lakatta EG, Lage K, Launer LJ, Levy D, Lundby A, Macfarlane PW, May D, Meitinger T, Metspalu A, Nappo S, Naitza S, Neph S, Nord AS, Nutile T, Okin PM, Olsen JV, Oostra BA, Penninger JM, Pennacchio LA, Pers TH, Perz S, Peters A, Pinto YM, Pfeufer A, Pilia MG, Pramstaller PP, Prins BP, Raitakari OT, Raychaudhuri S, Rice KM, Rossin EJ, Rotter JI, Schafer S, Schlessinger D, Schmidt CO, Sehmi J, Silljé HHW, Sinagra G, Sinner MF, Slowikowski K, Soliman EZ, Spector TD, Spiering W, Stamatoyannopoulos JA, Stolk RP, Strauch K, Tan ST, Tarasov KV, Trinh B, Uitterlinden AG, van den Boogaard M, van Duijn CM, van Gilst WH, Viikari JS, Visscher PM, Vitart V, Völker U, Waldenberger M, Weichenberger CX, Westra HJ, Wijmenga C, Wolffenbuttel BH, Yang J, Bezzina CR, Munroe PB, Snieder H, Wright AF, Rudan I, Boyer LA, Asselbergs FW, van Veldhuisen DJ, Stricker BH, Psaty BM, Ciullo M, Sanna S, Lehtimäki T, Wilson JF, Bandinelli S, Alonso A, Gasparini P, Jukema JW, Kääb S, Gudnason V, Felix SB, Heckbert SR, de Boer RA, Newton-Cheh C, Hicks AA, Chambers JC, Jamshidi Y, Visel A, Christoffels VM, Isaacs A, Samani NJ, de Bakker PIW.
J Am Coll Cardiol. 2016 Sep 27;68(13):1435-1448. doi: 10.1016/j.jacc.2016.07.729.
PMID: 27659466 Free PMC article.
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MicroRNA-153 targeting of KCNQ4 contributes to vascular dysfunction in hypertension.
Carr G, Barrese V, Stott JB, Povstyan OV, Jepps TA, Figueiredo HB, Zheng D, Jamshidi Y, Greenwood IA.
Cardiovasc Res. 2016 Nov 1;112(2):581-589. doi: 10.1093/cvr/cvw177.
PMID: 27389411 Free PMC article.
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Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study.
Prins BP, Abbasi A, Wong A, Vaez A, Nolte I, Franceschini N, Stuart PE, Guterriez Achury J, Mistry V, Bradfield JP, Valdes AM, Bras J, Shatunov A; PAGE Consortium; International Stroke Genetics Consortium; Systemic Sclerosis consortium; Treat OA consortium; DIAGRAM Consortium; CARDIoGRAMplusC4D Consortium; ALS consortium; International Parkinson’s Disease Genomics Consortium; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; CKDGen consortium; GERAD1 Consortium; International Consortium for Blood Pressure; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Inflammation Working Group of the CHARGE Consortium, Lu C, Han B, Raychaudhuri S, Bevan S, Mayes MD, Tsoi LC, Evangelou E, Nair RP, Grant SF, Polychronakos C, Radstake TR, van Heel DA, Dunstan ML, Wood NW, Al-Chalabi A, Dehghan A, Hakonarson H, Markus HS, Elder JT, Knight J, Arking DE, Spector TD, Koeleman BP, van Duijn CM, Martin J, Morris AP, Weersma RK, Wijmenga C, Munroe PB, Perry JR, Pouget JG, Jamshidi Y, Snieder H, Alizadeh BZ.
PLoS Med. 2016 Jun 21;13(6):e1001976. doi: 10.1371/journal.pmed.1001976. eCollection 2016 Jun.
PMID: 27327646 Free PMC article.
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Coagulation Gene Expression Profiling in Infants With Necrotizing Enterocolitis.
Giuliani S, Tan YW, Zheng D, Petropoulou E, Sohail A, Bradley S, Richards J, Kennea N, Jamshidi Y.
J Pediatr Gastroenterol Nutr. 2016 Dec;63(6):e169-e175. doi: 10.1097/MPG.0000000000001215.
PMID: 27050058
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Timing, rates and spectra of human germline mutation.
Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR; UK10K Consortium, Hurles ME.
Nat Genet. 2016 Feb;48(2):126-133. doi: 10.1038/ng.3469. Epub 2015 Dec 14.
PMID: 26656846 Free PMC article.
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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng HF; UK10K Consortium, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N.
Nat Commun. 2015 Sep 14;6:8111. doi: 10.1038/ncomms9111.
PMID: 26368830 Free PMC article.
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The UK10K project identifies rare variants in health and disease.
UK10K Consortium, Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N.
Nature. 2015 Oct 1;526(7571):82-90. doi: 10.1038/nature14962. Epub 2015 Sep 14.
PMID: 26367797 Free PMC article.
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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.
Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074.
PMID: 26044572 Free PMC article.
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Whole-genome sequence-based analysis of thyroid function.
Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG; UK0K Consortium.
Nat Commun. 2015 Mar 6;6:5681. doi: 10.1038/ncomms6681.
PMID: 25743335 Free PMC article.
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Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Behr ER, Savio-Galimberti E, Barc J, Holst AG, Petropoulou E, Prins BP, Jabbari J, Torchio M, Berthet M, Mizusawa Y, Yang T, Nannenberg EA, Dagradi F, Weeke P, Bastiaenan R, Ackerman MJ, Haunso S, Leenhardt A, Kääb S, Probst V, Redon R, Sharma S, Wilde A, Tfelt-Hansen J, Schwartz P, Roden DM, Bezzina CR, Olesen M, Darbar D, Guicheney P, Crotti L; UK10K Consortium, Jamshidi Y.
Cardiovasc Res. 2015 Jun 1;106(3):520-9. doi: 10.1093/cvr/cvv042. Epub 2015 Feb 17.
PMID: 25691538 Free PMC article. Clinical Trial.
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A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N; UK1OK Consortium Members; UK1OK Consortium Members.
Nat Commun. 2014 Sep 16;5:4871. doi: 10.1038/ncomms5871.
PMID: 25225788 Free PMC article. Clinical Trial.
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dörr M, Müller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikäinen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai ÅT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J; CARe Consortium; COGENT Consortium, Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polašek O, Wright AF, Griffin M, Daly MJ; DCCT/EDIC, Arnar DO, Hólm H, Thorsteinsdottir U; eMERGE Consortium, Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R, Hoffmann P, Jöckel KH, Kälsch H, Nöthen MM; HRGEN Consortium, den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, del Greco M F, Fuchsberger C, O'Connell JR, Lee WK, Watt GC, Campbell H, Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Mateo Leach I, Navis G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L, Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orrú M, Schlessinger D, Uda M, Markus MR, Völker U, Snieder H, Spector TD, Ärnlöv J, Lind L, Sundström J, Syvänen AC, Kivimaki M, Kähönen M, Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Mühleisen TW, Pramstaller PP, Lehtimäki TJ, Paterson AD, Parsa A, Liu Y, van Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kääb S, Chakravarti A, Ackerman MJ, Pfeufer A, de Bakker PI, Newton-Cheh C.
Nat Genet. 2014 Aug;46(8):826-36. doi: 10.1038/ng.3014. Epub 2014 Jun 22.
PMID: 24952745 Free PMC article.
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Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.
Magnani JW, Brody JA, Prins BP, Arking DE, Lin H, Yin X, Liu CT, Morrison AC, Zhang F, Spector TD, Alonso A, Bis JC, Heckbert SR, Lumley T, Sitlani CM, Cupples LA, Lubitz SA, Soliman EZ, Pulit SL, Newton-Cheh C, O'Donnell CJ, Ellinor PT, Benjamin EJ, Muzny DM, Gibbs RA, Santibanez J, Taylor HA, Rotter JI, Lange LA, Psaty BM, Jackson R, Rich SS, Boerwinkle E, Jamshidi Y, Sotoodehnia N; CHARGE Consortium; NHLBI Exome Sequencing Project (ESP); UK10K.
Circ Cardiovasc Genet. 2014 Jun;7(3):365-73. doi: 10.1161/CIRCGENETICS.113.000098.
PMID: 24951663 Free PMC article.
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Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes.
Behr ER, Ritchie MD, Tanaka T, Kääb S, Crawford DC, Nicoletti P, Floratos A, Sinner MF, Kannankeril PJ, Wilde AA, Bezzina CR, Schulze-Bahr E, Zumhagen S, Guicheney P, Bishopric NH, Marshall V, Shakir S, Dalageorgou C, Bevan S, Jamshidi Y, Bastiaenen R, Myerburg RJ, Schott JJ, Camm AJ, Steinbeck G, Norris K, Altman RB, Tatonetti NP, Jeffery S, Kubo M, Nakamura Y, Shen Y, George AL Jr, Roden DM.
PLoS One. 2013 Nov 6;8(11):e78511. doi: 10.1371/journal.pone.0078511. eCollection 2013.
PMID: 24223155 Free PMC article.
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Mining the human phenome using allelic scores that index biological intermediates.
Evans DM, Brion MJ, Paternoster L, Kemp JP, McMahon G, Munafò M, Whitfield JB, Medland SE, Montgomery GW; GIANT Consortium; CRP Consortium; TAG Consortium, Timpson NJ, St Pourcain B, Lawlor DA, Martin NG, Dehghan A, Hirschhorn J, Smith GD.
PLoS Genet. 2013 Oct;9(10):e1003919. doi: 10.1371/journal.pgen.1003919. Epub 2013 Oct 31.
PMID: 24204319 Free PMC article.
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The genetics of pro-arrhythmic adverse drug reactions.
Petropoulou E, Jamshidi Y, Behr ER.
Br J Clin Pharmacol. 2014 Apr;77(4):618-25. doi: 10.1111/bcp.12208.
PMID: 23834499 Free PMC article. Review.
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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F.
Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13.
PMID: 23768512 Free PMC article.
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Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
den Hoed M, Eijgelsheim M, Esko T, Brundel BJ, Peal DS, Evans DM, Nolte IM, Segrè AV, Holm H, Handsaker RE, Westra HJ, Johnson T, Isaacs A, Yang J, Lundby A, Zhao JH, Kim YJ, Go MJ, Almgren P, Bochud M, Boucher G, Cornelis MC, Gudbjartsson D, Hadley D, van der Harst P, Hayward C, den Heijer M, Igl W, Jackson AU, Kutalik Z, Luan J, Kemp JP, Kristiansson K, Ladenvall C, Lorentzon M, Montasser ME, Njajou OT, O'Reilly PF, Padmanabhan S, St Pourcain B, Rankinen T, Salo P, Tanaka T, Timpson NJ, Vitart V, Waite L, Wheeler W, Zhang W, Draisma HH, Feitosa MF, Kerr KF, Lind PA, Mihailov E, Onland-Moret NC, Song C, Weedon MN, Xie W, Yengo L, Absher D, Albert CM, Alonso A, Arking DE, de Bakker PI, Balkau B, Barlassina C, Benaglio P, Bis JC, Bouatia-Naji N, Brage S, Chanock SJ, Chines PS, Chung M, Darbar D, Dina C, Dörr M, Elliott P, Felix SB, Fischer K, Fuchsberger C, de Geus EJ, Goyette P, Gudnason V, Harris TB, Hartikainen AL, Havulinna AS, Heckbert SR, Hicks AA, Hofman A, Holewijn S, Hoogstra-Berends F, Hottenga JJ, Jensen MK, Johansson A, Junttila J, Kääb S, Kanon B, Ketkar S, Khaw KT, Knowles JW, Kooner AS, Kors JA, Kumari M, Milani L, Laiho P, Lakatta EG, Langenberg C, Leusink M, Liu Y, Luben RN, Lunetta KL, Lynch SN, Markus MR, Marques-Vidal P, Mateo Leach I, McArdle WL, McCarroll SA, Medland SE, Miller KA, Montgomery GW, Morrison AC, Müller-Nurasyid M, Navarro P, Nelis M, O'Connell JR, O'Donnell CJ, Ong KK, Newman AB, Peters A, Polasek O, Pouta A, Pramstaller PP, Psaty BM, Rao DC, Ring SM, Rossin EJ, Rudan D, Sanna S, Scott RA, Sehmi JS, Sharp S, Shin JT, Singleton AB, Smith AV, Soranzo N, Spector TD, Stewart C, Stringham HM, Tarasov KV, Uitterlinden AG, Vandenput L, Hwang SJ, Whitfield JB, Wijmenga C, Wild SH, Willemsen G, Wilson JF, Witteman JC, Wong A, Wong Q, Jamshidi Y, Zitting P, Boer JM, Boomsma DI, Borecki IB, van Duijn CM, Ekelund U, Forouhi NG, Froguel P, Hingorani A, Ingelsson E, Kivimaki M, Kronmal RA, Kuh D, Lind L, Martin NG, Oostra BA, Pedersen NL, Quertermous T, Rotter JI, van der Schouw YT, Verschuren WM, Walker M, Albanes D, Arnar DO, Assimes TL, Bandinelli S, Boehnke M, de Boer RA, Bouchard C, Caulfield WL, Chambers JC, Curhan G, Cusi D, Eriksson J, Ferrucci L, van Gilst WH, Glorioso N, de Graaf J, Groop L, Gyllensten U, Hsueh WC, Hu FB, Huikuri HV, Hunter DJ, Iribarren C, Isomaa B, Jarvelin MR, Jula A, Kähönen M, Kiemeney LA, van der Klauw MM, Kooner JS, Kraft P, Iacoviello L, Lehtimäki T, Lokki ML, Mitchell BD, Navis G, Nieminen MS, Ohlsson C, Poulter NR, Qi L, Raitakari OT, Rimm EB, Rioux JD, Rizzi F, Rudan I, Salomaa V, Sever PS, Shields DC, Shuldiner AR, Sinisalo J, Stanton AV, Stolk RP, Strachan DP, Tardif JC, Thorsteinsdottir U, Tuomilehto J, van Veldhuisen DJ, Virtamo J, Viikari J, Vollenweider P, Waeber G, Widen E, Cho YS, Olsen JV, Visscher PM, Willer C, Franke L; Global BPgen Consortium; CARDIoGRAM Consortium, Erdmann J, Thompson JR; PR GWAS Consortium, Pfeufer A; QRS GWAS Consortium, Sotoodehnia N; QT-IGC Consortium, Newton-Cheh C; CHARGE-AF Consortium, Ellinor PT, Stricker BH, Metspalu A, Perola M, Beckmann JS, Smith GD, Stefansson K, Wareham NJ, Munroe PB, Sibon OC, Milan DJ, Snieder H, Samani NJ, Loos RJ.
Nat Genet. 2013 Jun;45(6):621-31. doi: 10.1038/ng.2610. Epub 2013 Apr 14.
PMID: 23583979 Free PMC article.
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Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.
Guo Y, Lanktree MB, Taylor KC, Hakonarson H, Lange LA, Keating BJ; IBC 50K SNP array BMI Consortium.
Hum Mol Genet. 2013 Jan 1;22(1):184-201. doi: 10.1093/hmg/dds396. Epub 2012 Sep 21.
PMID: 23001569 Free PMC article.
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Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma.
Park S, Jamshidi Y, Vaideanu D, Fraser S, Sowden JC.
Mol Vis. 2012;18:1526-39. Epub 2012 Jun 13.
PMID: 22736943 Free PMC article.
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Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia.
Jamshidi Y, Nolte IM, Dalageorgou C, Zheng D, Johnson T, Bastiaenen R, Ruddy S, Talbott D, Norris KJ, Snieder H, George AL, Marshall V, Shakir S, Kannankeril PJ, Munroe PB, Camm AJ, Jeffery S, Roden DM, Behr ER.
J Am Coll Cardiol. 2012 Aug 28;60(9):841-50. doi: 10.1016/j.jacc.2012.03.031. Epub 2012 Jun 6.
PMID: 22682551 Free PMC article.
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The age-dependency of genetic and environmental influences on serum cytokine levels: a twin study.
Sas AA, Jamshidi Y, Zheng D, Wu T, Korf J, Alizadeh BZ, Spector TD, Snieder H.
Cytokine. 2012 Oct;60(1):108-13. doi: 10.1016/j.cyto.2012.04.047. Epub 2012 Jun 4.
PMID: 22673037
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A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes.
Kääb S, Crawford DC, Sinner MF, Behr ER, Kannankeril PJ, Wilde AA, Bezzina CR, Schulze-Bahr E, Guicheney P, Bishopric NH, Myerburg RJ, Schott JJ, Pfeufer A, Beckmann BM, Martens E, Zhang T, Stallmeyer B, Zumhagen S, Denjoy I, Bardai A, Van Gelder IC, Jamshidi Y, Dalageorgou C, Marshall V, Jeffery S, Shakir S, Camm AJ, Steinbeck G, Perz S, Lichtner P, Meitinger T, Peters A, Wichmann HE, Ingram C, Bradford Y, Carter S, Norris K, Ritchie MD, George AL Jr, Roden DM.
Circ Cardiovasc Genet. 2012 Feb 1;5(1):91-9. doi: 10.1161/CIRCGENETICS.111.960930. Epub 2011 Nov 18.
PMID: 22100668 Free PMC article.
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Undernutrition in adolescence and risk of cardiovascular disease.
Jamshidi Y, Gibson P, Ray KK.
Eur Heart J. 2012 Feb;33(4):433-5. doi: 10.1093/eurheartj/ehr270. Epub 2011 Aug 25.
PMID: 21868475 No abstract available.
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Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
Dehghan A, Dupuis J, Barbalic M, Bis JC, Eiriksdottir G, Lu C, Pellikka N, Wallaschofski H, Kettunen J, Henneman P, Baumert J, Strachan DP, Fuchsberger C, Vitart V, Wilson JF, Paré G, Naitza S, Rudock ME, Surakka I, de Geus EJ, Alizadeh BZ, Guralnik J, Shuldiner A, Tanaka T, Zee RY, Schnabel RB, Nambi V, Kavousi M, Ripatti S, Nauck M, Smith NL, Smith AV, Sundvall J, Scheet P, Liu Y, Ruokonen A, Rose LM, Larson MG, Hoogeveen RC, Freimer NB, Teumer A, Tracy RP, Launer LJ, Buring JE, Yamamoto JF, Folsom AR, Sijbrands EJ, Pankow J, Elliott P, Keaney JF, Sun W, Sarin AP, Fontes JD, Badola S, Astor BC, Hofman A, Pouta A, Werdan K, Greiser KH, Kuss O, Meyer zu Schwabedissen HE, Thiery J, Jamshidi Y, Nolte IM, Soranzo N, Spector TD, Völzke H, Parker AN, Aspelund T, Bates D, Young L, Tsui K, Siscovick DS, Guo X, Rotter JI, Uda M, Schlessinger D, Rudan I, Hicks AA, Penninx BW, Thorand B, Gieger C, Coresh J, Willemsen G, Harris TB, Uitterlinden AG, Järvelin MR, Rice K, Radke D, Salomaa V, Willems van Dijk K, Boerwinkle E, Vasan RS, Ferrucci L, Gibson QD, Bandinelli S, Snieder H, Boomsma DI, Xiao X, Campbell H, Hayward C, Pramstaller PP, van Duijn CM, Peltonen L, Psaty BM, Gudnason V, Ridker PM, Homuth G, Koenig W, Ballantyne CM, Witteman JC, Benjamin EJ, Perola M, Chasman DI.
Circulation. 2011 Feb 22;123(7):731-8. doi: 10.1161/CIRCULATIONAHA.110.948570. Epub 2011 Feb 7.
PMID: 21300955 Free PMC article.
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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.
PMID: 21194676 Free PMC article.
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Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
Sotoodehnia N, Isaacs A, de Bakker PI, Dörr M, Newton-Cheh C, Nolte IM, van der Harst P, Müller M, Eijgelsheim M, Alonso A, Hicks AA, Padmanabhan S, Hayward C, Smith AV, Polasek O, Giovannone S, Fu J, Magnani JW, Marciante KD, Pfeufer A, Gharib SA, Teumer A, Li M, Bis JC, Rivadeneira F, Aspelund T, Köttgen A, Johnson T, Rice K, Sie MP, Wang YA, Klopp N, Fuchsberger C, Wild SH, Mateo Leach I, Estrada K, Völker U, Wright AF, Asselbergs FW, Qu J, Chakravarti A, Sinner MF, Kors JA, Petersmann A, Harris TB, Soliman EZ, Munroe PB, Psaty BM, Oostra BA, Cupples LA, Perz S, de Boer RA, Uitterlinden AG, Völzke H, Spector TD, Liu FY, Boerwinkle E, Dominiczak AF, Rotter JI, van Herpen G, Levy D, Wichmann HE, van Gilst WH, Witteman JC, Kroemer HK, Kao WH, Heckbert SR, Meitinger T, Hofman A, Campbell H, Folsom AR, van Veldhuisen DJ, Schwienbacher C, O'Donnell CJ, Volpato CB, Caulfield MJ, Connell JM, Launer L, Lu X, Franke L, Fehrmann RS, te Meerman G, Groen HJ, Weersma RK, van den Berg LH, Wijmenga C, Ophoff RA, Navis G, Rudan I, Snieder H, Wilson JF, Pramstaller PP, Siscovick DS, Wang TJ, Gudnason V, van Duijn CM, Felix SB, Fishman GI, Jamshidi Y, Stricker BH, Samani NJ, Kääb S, Arking DE.
Nat Genet. 2010 Dec;42(12):1068-76. doi: 10.1038/ng.716. Epub 2010 Nov 14.
PMID: 21076409 Free PMC article.
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Genome-wide association analysis identifies multiple loci related to resting heart rate.
Eijgelsheim M, Newton-Cheh C, Sotoodehnia N, de Bakker PI, Müller M, Morrison AC, Smith AV, Isaacs A, Sanna S, Dörr M, Navarro P, Fuchsberger C, Nolte IM, de Geus EJ, Estrada K, Hwang SJ, Bis JC, Rückert IM, Alonso A, Launer LJ, Hottenga JJ, Rivadeneira F, Noseworthy PA, Rice KM, Perz S, Arking DE, Spector TD, Kors JA, Aulchenko YS, Tarasov KV, Homuth G, Wild SH, Marroni F, Gieger C, Licht CM, Prineas RJ, Hofman A, Rotter JI, Hicks AA, Ernst F, Najjar SS, Wright AF, Peters A, Fox ER, Oostra BA, Kroemer HK, Couper D, Völzke H, Campbell H, Meitinger T, Uda M, Witteman JC, Psaty BM, Wichmann HE, Harris TB, Kääb S, Siscovick DS, Jamshidi Y, Uitterlinden AG, Folsom AR, Larson MG, Wilson JF, Penninx BW, Snieder H, Pramstaller PP, van Duijn CM, Lakatta EG, Felix SB, Gudnason V, Pfeufer A, Heckbert SR, Stricker BH, Boerwinkle E, O'Donnell CJ.
Hum Mol Genet. 2010 Oct 1;19(19):3885-94. doi: 10.1093/hmg/ddq303. Epub 2010 Jul 16.
PMID: 20639392 Free PMC article.
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Novel genes for QTc interval. How much heritability is explained, and how much is left to find?
Jamshidi Y, Nolte IM, Spector TD, Snieder H.
Genome Med. 2010 May 27;2(5):35. doi: 10.1186/gm156.
PMID: 20519034 Free PMC article.
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Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.
Nolte IM, Wallace C, Newhouse SJ, Waggott D, Fu J, Soranzo N, Gwilliam R, Deloukas P, Savelieva I, Zheng D, Dalageorgou C, Farrall M, Samani NJ, Connell J, Brown M, Dominiczak A, Lathrop M, Zeggini E, Wain LV; Wellcome Trust Case Control Consortium; DCCT/EDIC Research Group, Newton-Cheh C, Eijgelsheim M, Rice K, de Bakker PI; QTGEN consortium, Pfeufer A, Sanna S, Arking DE; QTSCD consortium, Asselbergs FW, Spector TD, Carter ND, Jeffery S, Tobin M, Caulfield M, Snieder H, Paterson AD, Munroe PB, Jamshidi Y.
PLoS One. 2009 Jul 9;4(7):e6138. doi: 10.1371/journal.pone.0006138.
PMID: 19587794 Free PMC article.
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Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes.
Park S, Jamshidi Y, Vaideanu D, Bitner-Glindzicz M, Fraser S, Sowden JC.
Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1522-30. doi: 10.1167/iovs.08-2483. Epub 2008 Oct 24.
PMID: 18952915
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Heritability of QT interval: how much is explained by genes for resting heart rate?
Dalageorgou C, Ge D, Jamshidi Y, Nolte IM, Riese H, Savelieva I, Carter ND, Spector TD, Snieder H.
J Cardiovasc Electrophysiol. 2008 Apr;19(4):386-91. doi: 10.1111/j.1540-8167.2007.01030.x. Epub 2007 Nov 20.
PMID: 18031506
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Common STAT3 variants are not associated with obesity or insulin resistance in female twins.
Jamshidi Y, Kyriakou T, Gooljar SB, Collins LJ, Lane CA, Snieder H, Wang X, Spector TD, O'Dell SD.
Obesity (Silver Spring). 2007 Jul;15(7):1634-9. doi: 10.1038/oby.2007.194.
PMID: 17636079 Free PMC article.
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The SH2B gene is associated with serum leptin and body fat in normal female twins.
Jamshidi Y, Snieder H, Ge D, Spector TD, O'Dell SD.
Obesity (Silver Spring). 2007 Jan;15(1):5-9. doi: 10.1038/oby.2007.637.
PMID: 17228025 Free PMC article.
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Hypertrophic effects of urocortin homologous peptides are mediated via activation of the Akt pathway.
Chanalaris A, Lawrence KM, Townsend PA, Davidson S, Jamshidi Y, Stephanou A, Knight RD, Hsu SY, Hsueh AJ, Latchman DS.
Biochem Biophys Res Commun. 2005 Mar 11;328(2):442-8. doi: 10.1016/j.bbrc.2005.01.001.
PMID: 15694367
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Insertion/deletion polymorphism of the angiotensin I-converting enzyme gene and arterial oxygen saturation at high altitude.
Woods DR, Pollard AJ, Collier DJ, Jamshidi Y, Vassiliou V, Hawe E, Humphries SE, Montgomery HE.
Am J Respir Crit Care Med. 2002 Aug 1;166(3):362-6. doi: 10.1164/rccm.2103060.
PMID: 12153971
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Characterization of the human PPARalpha promoter: identification of a functional nuclear receptor response element.
Pineda Torra I, Jamshidi Y, Flavell DM, Fruchart JC, Staels B.
Mol Endocrinol. 2002 May;16(5):1013-28. doi: 10.1210/mend.16.5.0833.
PMID: 11981036
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Peroxisome proliferator-activated receptor alpha gene variants influence progression of coronary atherosclerosis and risk of coronary artery disease.
Flavell DM, Jamshidi Y, Hawe E, Pineda Torra I, Taskinen MR, Frick MH, Nieminen MS, Kesäniemi YA, Pasternack A, Staels B, Miller G, Humphries SE, Talmud PJ, Syvänne M.
Circulation. 2002 Mar 26;105(12):1440-5. doi: 10.1161/01.cir.0000012145.80593.25.
PMID: 11914252
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Peroxisome proliferator--activated receptor alpha gene regulates left ventricular growth in response to exercise and hypertension.
Jamshidi Y, Montgomery HE, Hense HW, Myerson SG, Torra IP, Staels B, World MJ, Doering A, Erdmann J, Hengstenberg C, Humphries SE, Schunkert H, Flavell DM.
Circulation. 2002 Feb 26;105(8):950-5. doi: 10.1161/hc0802.104535.
PMID: 11864924 Clinical Trial.
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