Journal Publications
The high collegiality among the lab members is evidenced by the variety of publications with undergraduate students, graduate students, and PI authorship. ^ indicates lab member author, ^^ indicates graduate/undergraduate student author from the group
You can also download a copy of our publications here: Publications List
Bersell KR, Yang T, Mosley JD, Glazer AM, Hale AT, Kryshtal DO, Kim K, Steimle JD, Brown JD, Salem JE, Campbell CC, Hong CC, Wells QS, Johnson AN, Short L, Blair MA, Behr ER, Petropoulou E^^, Jamshidi Y, Benson MD, Keyes MJ, Ngo D, Vasan RS, Yang Q, Gerszten RE, Shaffer C, Parikh S, Sheng Q, Kannankeril PJ, Moskowitz IP, York JD, Wang TJ, Knollmann BC, Roden DM. Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization. Circulation. 2022 Dec 16. doi: 10.1161/CIRCULATIONAHA.122.062193. Online ahead of print. PMID: 36524479
Whittle E*, Chilian M*, Karimiani EG, Progri H, Buhas D, Kose M, Ganetzky RD, Toosi MB, Torbati PN, Badv RS, Shelihan I, Yang H, Elloumi HZ, Lee S, Jamshidi Y, Pittman AM, Houlden H, Ignatius E, Rahman S, Maroofian R, Yoon WH*#, Carroll CJ*#. Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterised by global developmental delay, movement disorder and metabolic abnormalities. Genet Med. 2022 Dec 14:S1098-3600(22)01000-0. doi: 10.1016/j.gim.2022.11.001. Online ahead of print. PMID: 36520152
Koopmann T*, Jamshidi Y*, Naghibi-Sistani M, van der Klift HM, Birjandi H, Al-Hassnan Z, Alwadai A, Zifarelli G, Ghayoor Karimiani E, Sedighzadeh S, Bahreini A, Nouri N, Peter M, Watanabe K, van Duyvenvoorde H, Ruivenkamp C, Teunissen A, Ten Harkel A, van Duinen S, Haak MC, Prada C, Santen GE, Maroofian R. Bi-allelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy. Eur J Hum Genet. 2022 Oct 17. doi: 10.1038/s41431-022-01204-9. Online ahead of print.PMID: 36253531
Young WJ, Lahrouchi N, Isaacs A, Duong T, Foco L et al. Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways. Nat Commun. 2022 Sep 1;13(1):5144. doi: 10.1038/s41467-022-32821-z.
Kraatari-Tiri M*, Soikkonen L*, Myllykoski M*, Jamshidi Y*, Karimiani EG, Komulainen-Ebrahim J, Kallankari H, Mignot C, Depienne C, Keren B, Nougues MC, Alsahlawi Z, Romito A, Martini J, Toosi MB, Carroll CJ, Tripolszki K, Bauer P, Uusimaa J, Bertoli-Avella AM, Koivunen P, Rahikkala E. HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein. Clin Genet. 2022 Jul 30. doi: 10.1111/cge.14203.
Calame DG, Herman I, Maroofian R et al., Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 Apr 26 doi: 10.1002/ana.26381 (Online ahead of print).
Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics. The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. Eur J Hum Genet. 2022 May;30(5):493-495.
2022
Ahluwalia TS et al. Genome-Wide Association Study of Circulating Interleukin 6 Levels Identifies Novel Loci. Human Molecular Genetics 2021 Apr 27;30(5):393-409.
Osborn DPS^#, Emrahi E#, Clayton J, Tabrizi MT, Wan AYB^, Maroofian R, Yazdchi M, Garcia MLE^^, Galehdari H, Hesse C, Shariati G, Mazaheri N, Sedaghat A, Goullée H, Laing N, Jamshidi Y*, Tajsharghi H*. Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3. Genetics in Medicine Genet Med. 2021 Apr;23(4):787-792.*Co-corresponding authors.
2021
2020
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. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. The American Journal of Human Genetics 2020 Aug 6;107(2):311-324.
Hines O^^, Diaz-Ordaz K, Vansteelandt S, Jamshidi Y. Causal graphs for the analysis of genetic cohort data. Review Article. Physiological Genomics 2020 Sep 1;52(9):369-378.
Scala M, Chua GL, Chin CF, Alsaif HS, Artem B, Riazuddin S, Riazuddin S, Manzini MC, 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. Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. European Journal of Human Genetics 2020 Nov;28(11):1509-1519.
Cauley ES, Pittman A, Mummidivarpu S, Karimiani EG, Martinez S, Moroni I, Boostani R, Podini D, Mora M, Jamshidi Y, Hoffman EP, Manzini MC. Novel mutation identification and copy-number variant detection via exome sequencing in congenital muscular dystrophy. Molecular Genetics & Genomics 2020 Sep 16:e1387.
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. Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants. Brain 2020 Aug 1;143(8):2388-2397.
Ntalla I, Weng LC, …, Gudbjartsson D, Holm H, Sulem P, Thorleifsson G, Thorolfsdottir R, Thorsteinsdottir U, Benjamin E, Tinker A, Stefansson K, Ellinor P, Jamshidi Y, Lubitz S, Munroe P. Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction. Nature Communications 2020 May 21;11(1):2542.
Babakhanzadeh E, Khodadadian A, Rostami S, Alipourfard I, Aghaei M, Nazari M, Hosseinnia M, Mehrjardi MYV, Jamshidi Y, Ghasemi N. Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia. BMC Med Genet. 2020 Feb 14;21(1):33.
Teumer A, Trenkwalder T, Kessler T, Jamshidi Y, van den Berg M, Kaess B, Nelson CP, Bastiaenen R, De Bortoli M, Rossini A, Deisenhofer I, Stark K, Assa S, Braund PS, Cabrera CP, Dominiczak A, Gögele M, Hall L, Ikram MA, Kavousi M, Lackner KJ, Müller C, Munzel T, Nauck M, Padmanabhan S, Pfeiffer N, Spector T, Uitterlinden AG, Verweij N, Voelker U, Warren HR, Zafar M, Felix SB, Kors JA, Snieder H, Munroe PB, Pattaro C, Fuchsberger C, Schmidt G, Nolte IM, Schunkert H, Pramstaller P, Wild P, van der Harst P, Stricker BH, Schnabel R, Samani NJ, Hengstenberg C, Dörr M, Behr ER, Reinhard W. KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern. JCI Insight. 2019 Dec 5;4(23):e131156.
Wagner M, Osborn DPS^, Gehweiler I, Nage 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. Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nature Communications 2019 Oct 21;10(1):4790. *Co-Senior authors.
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. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Volume 105, ISSUE 4, P844-853, October 03, 2019. Link to article.
Wang H, Bayram AC, Sprute R, Ozdemir O, Cooper E^^, Pergande M, Efthymiou S, Nedic I^^, Mazaheri N, Stumpfe K, Malamiri RA, Shariati R, Zeighami J, Bayram N, Naghibzadeh SK, Tajik M, Yaşar M, Güven AS, Bibi F, Sultan T, Salpietro V, Houlden H, Per H, Galehdari H, Shalbafan B, Jamshidi Y* and Cirak S*. Genotype-Phenotype Correlations in Charcot-Marie-Tooth disease due to MTMR2 mutations and implications in membrane trafficking. Frontiers in Neurology 2019 Oct 14;13:974. *Co-Senior authors.
Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP. 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. Scientific Reports 2019 Jun 21;9(1):9038. Link to article.
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, Dávila López M, Doosti M, Banote RK, Maroofian R^^, Edling M, Taherpour M, Zetterberg H, Karimiani EG^, Oldfors A, Jamshidi Y. Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. Hum Mol Genet. 2019 Jun 1;28(11):1919-1929. Full text link.
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 TD, Snieder H, Samani NJ, Jamshidi Y*, Behr ER*. The narrow-sense and common single nucleotide polymorphism heritability of early repolarization. Int J Cardiol. 2019 Mar 15;279:135-140.
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 P, Meitinger T, Nelson CP, Raitakari OT, Aldana CTS, 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 PM, Peters A, Samani NJ, Sotoodehnia S, Ulivi S, Wilson JG, de Geus EJC, Jukema JW, Stricker B, van der Harst P, de Bakker PIW, Isaacs A. Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. European Journal of Human Genetics. Eur J Hum Genet. 2019 Jan 24. Full text download.
2018
Prins B^, Mead TJ, Brody J, Sveinbjornsson G, Ntalla I, Bihlmeyer N, van den Berg M, Bork-Jensen J, Cappellani S, Van Duijvenboden S, Klena N, Gabriel G, Liu X, Gulec C, Grarup N, Haessler J, Hall L, 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 A, Verweij N, Warren H, Weiss S, Alonso A, Arnar DO, Bots M, de Boer R, Dominiczak A, Eijgelsheim M, Ellinor P, Guo X, Felix S, Harris T, Hayward C, Heckbert S, Huang P, Jukema J, Kähönen M, Kors J, Lambiase P, Launer L, Li M, Linneberg A, Nelson C, Pedersen O, Perez M, Peters A, Polasek O, Psaty B, Raitakari O, Rice K, Rotter J, Sinner M, Soliman E, Spector T, Strauch K, Thorsteinsdottir U, Tinker A, Trompet S, Uitterlinden A, Vaartjes I, van der Meer P, Völker U, Völzke H, Waldenberger M, Wilson J, Xie Z, Asselbergs F, Dörr M, van Duijn C, Gasparini P, Gudbjartsson DF, Gudnason V, Hansen T, Kääb S, Kanters J, Kooperberg C, Lehtimäki T, Lin H, Lubitz S, Mook-Kanamori D, Conti F, Newton-Cheh C, Rosand J, Rudan I, Samani N, Sinagra G, Smith B, Holm H, Stricker B, Ulivi S, Sotoodehnia N, Apte S, van der Harst P, Stefansson K, Munroe PB, Arking D, Lo C, Jamshidi Y. Exome-chip meta-analysis identifies novel loci, including ADAMTS6 associated with cardiac conduction. Genome Biol. 2018 Jul 17;19(1):87. Full text download.
Jessica van Setten, Jennifer Brody, Yalda Jamshidi^, Brenton Swenson, Anne Butler, Harry Campbell, Fabiola Del Greco-M, Daniel Evans, Quince Gibson, Daniel Gudbjartsson, Kathleen Kerr, Bouwe Krijthe, Leo-Pekka Lyytikäinen, Christian Müller, Martina Müller-Nurasyid, Ilja Nolte, Sandosh Padmanabhan, Marylyn Ritchie, Antonietta Robino, Albert Smith, Maristella Steri, Toshiko Tanaka, Alexander Teumer, Stella Trompet, Sheila Ulivi, Niek Verweij, Xiaoyan Yin, David Arnar, Folkert Asselbergs, Joel Bader, John Barnard, Joshua Bis, Stefan Blankenberg, Eric Boerwinkle, Yuki Bradford, Brendan Buckley, Mina Chung, Dana Crawford, Marcel den Hoed, Joshua Denny, Anna Dominiczak, Georg Ehret, Mark Eijgelsheim, Patrick Ellinor, Stephan Felix, Oscar Franco, Lude Franke, Tamara Harris, Hilma Holm, Ilaria Gandin, Annamaria Iorio, Mika Kähönen, Ivana Kolcic, Jan Kors, Edward Lakatta, Lenore Launer, Honghuang Lin, Henry Lin, Ruth Loos, Steve Lubitz, Peter Macfarlane, Jared Magnani, Irene Mateo Leach, Thomas Meitinger, Braxton Mitchell, Thomas Munzel, George Papanicolaou, Annette Peters, Arne Pfeufer, Peter Pramstaller, Olli Raitakari, Jerome Rotter, Igor Rudan, Nilesh Samani, David Schlessinger, Claudia Silva, Moritz Sinner, Jonathan Smith, Harold Snieder, Elsayed Z Soliman, Timothy Spector, David Stott, Konstantin Strauch, Kirill Tarasov, André Uitterlinden, David van Wagoner, Uwe Völker, Henry Völzke, Melanie Waldenberger, Harm-Jan Westra, Philipp Wild, Tanja Zeller, Alvaro Alonso, Christy Avery, Stefania Bandinelli, Emelia Benjamin, Francesco Cucca, Marcus Dörr, Luigi Ferrucci, Paolo Gasparini, Vilmundur Gudnason, Caroline Hayward, Susan Heckbert, Andrew Hicks, J Wouter Jukema, Stefan Kaab, Terho Lehtimäki, Yongmei Liu, Patricia Munroe, Afshin Parsa, Ozren Polasek, Bruce Psaty, Dan Roden, Renate Schnabel, Gianfranco Sinagra, Kari Stefansson, Bruno Stricker, Pim van der Harst, Cornelia Duijn, James Wilson, Sina Gharib, Paul de Bakker, Aaron Isaacs, Dan Arking, and Nona Sotoodehnia. PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. Nature Communications 2018 Jul 25;9(1):2904. Full text download.
Valentina Muto, Elisabetta Flex, Zachary Kupchinsky, Guido Primiano, Hamid Galehdari, Mohammadreza Dehghani, Serena Cecchetti, Giovanna Carpentieri, Teresa Rizza, Neda Mazaheri, Alireza Sedaghat, Mohammad Mehrjardi, Alice Traversa, Michela Di Nottia, Maria Kousi, Yalda Jamshidi^, Andrea Ciolfi, Viviana Caputo, Reza Malamiri, Francesca Pantaleoni, Simone Martinelli, Aaron Jeffries, Jawaher Zeighami, Amir Sherafat, Daniela Di Giuda, Gholamreza Shariati, Rosalba Carrozzo, Nicholas Katsanis, Reza Maroofian^, Serenella Servidei, and Marco Tartaglia. Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. Neurology 2018.
Honghuang Lin; Jessica van Setten; Albert V. Smith; Nathan A. Bihlmeyer; Helen R. Warren; Jennifer A. Brody; Farid Radmanesh; Leanne Hall; Niels Grarup; Martina Müller-Nurasyid; Thibaud Boutin; Niek Verweij; Henry J. Lin; Ruifang LiGao; Marten E. van den Berg; Jonathan Marten; Stefan Weiss; Bram Prins^; Jeffrey Haessler; Leo-Pekka Lyytikäinen; Hao Mei; Tamara B. Harris; Lenore J. Launer; Man Li; Alvaro Alonso; Elsayed Z. Soliman; John M. Connell; Paul L. Huang; Lu-Chen Weng; Heather S. Jameson; William Hucker; Alan Hanley; Nathan R. Tucker; Yii-Der Ida Chen; Joshua C. Bis; Kenneth M. Rice; Colleen M. Sitlani; Jan A. Kors; Zhijun Xie; Chengping Wen; Jared W. Magnani; Christopher P. Nelson; Jørgen K. Kanters; Moritz F. Sinner; Konstantin Strauch; Annette Peters; Melanie Waldenberger; Thomas Meitinger; Jette Bork-Jensen; Oluf Pedersen; Allan Linneberg; Igor Rudan; Rudolf A. de Boer; Peter van der Meer; Jie Yao; Xiuqing Guo; Kent D. Taylor; Nona Sotoodehnia; Jerome I. Rotter; Dennis O. Mook-Kanamori; Stella Trompet; Fernando Rivadeneira; André Uitterlinden; Mark Eijgelsheim; Sandosh Padmanabhan; Blair H. Smith; Henry Völzke; Stephan B. Felix; Georg Homuth; Uwe Völker; Massimo Mangino; Timothy D. Spector; Michiel L. Bots; Marco Perez; Mika Kähönen; Olli T. Raitakari; Vilmundur Gudnason; Dan E. Arking; Patricia B. Munroe; Bruce M. Psaty; Cornelia M. van Duijn; Emelia J. Benjamin; Jonathan Rosand; Nilesh J. Samani; Torben Hansen; Stefan Kääb; Ozren Polasek; Pim van der Harst; Susan R. Heckbert; J. Wouter Jukema; Bruno H. Stricker; Caroline Hayward; Marcus Dörr; Yalda Jamshidi^; Folkert W. Asselbergs; Charles Kooperberg; Terho Lehtimäki; James G. Wilson; Patrick T. Ellinor; Steven A. Lubitz; Aaron Isaacs. Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval. Circ Genom Precis Med. 2018;May 11(5):e002037.
Nathan A. Bihlmeyer, Jennifer A. Brody, Albert Vernon Smith, Helen R. Warren, Honghuang Lin, Aaron Isaacs, Ching-Ti Liu, Jonathan Marten, Farid Radmanesh, Leanne M. Hall, Niels Grarup, Hao Mei, Martina Müller-Nurasyid, Jennifer E. Huffman, Niek Verweij, Xiuqing Guo, Jie Yao, Ruifang Li-Gao, Marten van den Berg, Stefan Weiss, Bram P. Prins^, Jessica van Setten, Jeffrey Haessler, Leo-Pekka Lyytikäinen, Man Li, Alvaro Alonso, Elsayed Z. Soliman, Joshua C. Bis, Tom Austin, Yii-Der Ida Chen, Bruce M. Psaty, Tamara B. Harrris, Lenore J. Launer, Sandosh Padmanabhan, Anna Dominiczak, Paul L. Huang, Zhijun Xie, Patrick T. Ellinor, Jan A. Kors, Archie Campbell, Alison D. Murray, Christopher P. Nelson, Martin D. Tobin, Jette Bork-Jensen, Torben Hansen, Oluf Pedersen, Allan Linneberg, Moritz F. Sinner, Annette Peters, Melanie Waldenberger, Thomas Meitinger, Siegfried Perz, Ivana Kolcic, Igor Rudan, Rudolf A. de Boer, Peter van der Meer, Henry J. Lin, Kent D. Taylor, Renée de Mutsert, Stella Trompet, J. Wouter Jukema, Arie C. Maan, Bruno H.C. Stricker, Fernando Rivadeneira, André Uitterlinden, Uwe Völker, Georg Homuth, Henry Völzke, Stephan B. Felix, Massimo Mangino, Timothy D. Spector, Michiel L. Bots, Marco Perez, Olli T. Raitakari, Mika Kähönen, Nina Mononen, Vilmundur Gudnason, Patricia B. Munroe, Steven A. Lubitz, Cornelia M. van Duijn, Christopher H. Newton-Cheh, Caroline Hayward, Jonathan Rosand, Nilesh J. Samani, Jørgen K. Kanters, James G. Wilson, Stefan Kääb, Ozren Polasek, Pim van der Harst, Susan R. Heckbert, Jerome I. Rotter, Dennis O. Mook-Kanamori, Mark Eijgelsheim, Marcus Dörr, Yalda Jamshidi^, Folkert W. Asselbergs, Charles Kooperberg, Terho Lehtimäki, Dan E. Arking, Nona Sotoodehnia. ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals. Circ Genom Precis Med. 2018;11:e001758.
2017
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. B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome Med. 2017 Dec 22;9(1):118.
Nolte IM, Jansweijer JA, Riese H, Asselbergs FW, van der Harst P, Spector TD, Pinto YM, Snieder H, Jamshidi Y^. A Comparison of Heritability Estimates by Classical Twin Modeling and Based on Genome-Wide Genetic Relatedness for Cardiac Conduction Traits. Twin Res Hum Genet. 2017 Dec;20(6):489-498.
Sas AA, Vaez A, Jamshidi Y^, Nolte IM, Kamali Z, D Spector T, Riese H, Snieder H. Genetic and environmental influences on stability and change in baseline levels of C-reactive protein: A longitudinal twin study. Atherosclerosis. 2017 Oct;265:172-178.
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. Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. Sci Rep. 2017 Jun 29;7(1):4394.
Petropoulou E^^, Soltani M, Firoozabadi AD, Namayandeh SM, Crockford J^^, Maroofian R^^, Jamshidi Y^. Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy. Eur J Med Genet. 2017 Sep;60(9):485-488.
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. Multiple roles of integrin-α3 at the neuromuscular junction. J Cell Sci. 2017 May 15;130(10):1772-1784.
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. Discovery of novel heart rate-associated loci using the Exome Chip. Hum Mol Genet. 2017 Jun 15;26(12):2346-2363.
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*. Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. Am J Hum Genet. 2017 Mar 2;100(3):537-545.
2016
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. Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans. Hum Mol Genet. 2016 Oct 1;25(19):4350-4368.
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*. 52 Genetic Loci Influencing Myocardial Mass. J Am Coll Cardiol. 2016 Sep 27;68(13):1435-1448.
Carr G, Barrese V, Stott JB, Povstyan OV, Jepps TA, Figueiredo HB, Zheng D^, Jamshidi Y^, Greenwood IA. MicroRNA-153 targeting of KCNQ4 contributes to vascular dysfunction in hypertension. Cardiovasc Res. 2016 Jul 7.
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. Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study. PLoS Med. 2016 Jun 21;13(6):e1001976.
Giuliani S, Tan YW, Zheng D^, Petropoulou E^^, Sohail A^^, Bradley S, Richards J, Kennea N, Jamshidi Y^. Coagulation Gene Expression Profiling in Infants With Necrotizing Enterocolitis. J Pediatr Gastroenterol Nutr. 2016 Dec;63(6):e169-e175.
Muggenthaler M^, Petropoulou E^^, Omer S, Simpson MA, Sahak H, Rice A, Raju H, Conti FJ, Bridges LR, Anderson LJ, Sharma S, Behr ER, Jamshidi Y^. Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease. Int J Cardiol. 2016 May 1;210:41-4.
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. Timing, rates and spectra of human germline mutation. Nat Genet. 2016 Feb;48(2):126-133.
2015
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. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nat Commun. 2015 Sep 14;6:8111.
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. The UK10K project identifies rare variants in health and disease. Nature. 2015 Oct 1;526(7571):82-90.
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. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun. 2015 Jun 5;6:7074.
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. Whole-genome sequence-based analysis of thyroid function. Nat Commun. 2015 Mar 6;6:5681.
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^. Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study. Cardiovasc Res. 2015 Jun 1;106(3):520-9.
2014
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; UK10K Consortium Members. A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Nat Commun. 2014 Sep 16;5:4871.
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. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nat Genet. 2014 Aug;46(8):826-36.
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. Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Circ Cardiovasc Genet. 2014 Jun;7(3):365-73.
Petropoulou E^^, Jamshidi Y^, Behr ER. The genetics of pro-arrhythmic adverse drug reactions. Br J Clin Pharmacol. 2014 Apr;77(4):618-25. Review.
2013
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. Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes. PLoS One. 2013 Nov 6;8(11):e78511.
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. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet. 2013 Jul 11;93(1):29-41.
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. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet. 2013 Jun;45(6):621-31.
Guo Y, Lanktree MB, Taylor KC, Hakonarson H, Lange LA, Keating BJ; IBC 50K SNP array BMI Consortium. Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals. Hum Mol Genet. 2013 Jan 1;22(1):184-201.
2012
Park S, Jamshidi Y^, Vaideanu D, Fraser S, Sowden JC. Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma. Mol Vis. 2012;18:1526-39.
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. Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia. J Am Coll Cardiol. 2012 Aug 28;60(9):841-50.
Sas AA, Jamshidi Y^, Zheng D^, Wu T, Korf J, Alizadeh BZ, Spector TD, Snieder H. The age-dependency of genetic and environmental influences on serum cytokine levels: a twin study. Cytokine. 2012 Oct;60(1):108-13.
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. A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ Cardiovasc Genet. 2012 Feb 1;5(1):91-9.
Jamshidi Y^, Gibson P^, Ray KK. Undernutrition in adolescence and risk of cardiovascular disease. Eur Heart J. 2012 Feb;33(4):433-5.
2011
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. Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. Circulation. 2011 Feb 22;123(7):731-8.
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. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet. 2011 Jan 7;88(1):6-18.
2010
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*. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet. 2010 Dec;42(12):1068-76.
Jamshidi Y^, Moreton M, McKeown DA, Andrews S, Nithiyananthan T^^, Tinworth L, Holt DW, Sadiq ST. Tribal ethnicity and CYP2B6 genetics in Ugandan and Zimbabwean populations in the UK: implications for efavirenz dosing in HIV infection. J Antimicrob Chemother. 2010 Dec;65(12):2614-9.
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. Genome-wide association analysis identifies multiple loci related to resting heart rate. Hum Mol Genet. 2010 Oct 1;19(19):3885-94.
Jamshidi Y^, Nolte IM, Spector TD, Snieder H. Novel genes for QTc interval. How much heritability is explained, and how much is left to find? Genome Med. 2010 May 27;2(5):35.
2009
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^. Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. PLoS One. 2009 Jul 9;4(7):e6138.
Park S, Jamshidi Y^, Vaideanu D, Bitner-Glindzicz M, Fraser S, Sowden JC. Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1522-30.
2008
Dalageorgou C^, Ge D, Jamshidi Y^, Nolte IM, Riese H, Savelieva I, Carter ND, Spector TD, Snieder H. Heritability of QT interval: how much is explained by genes for resting heart rate? J Cardiovasc Electrophysiol. 2008 Apr;19(4):386-91.
Jamshidi Y, Kyriakou T, Gooljar SB, Collins LJ, Lane CA, Snieder H, Wang X, Spector TD, O'Dell SD. Common STAT3 variants are not associated with obesity or insulin resistance in female twins. Obesity (Silver Spring). 2007 Jul;15(7):1634-9.
Jamshidi Y, Snieder H, Ge D, Spector TD, O'Dell SD. The SH2B gene is associated with serum leptin and body fat in normal female twins. Obesity (Silver Spring). 2007 Jan;15(1):5-9.
Jamshidi Y, Gooljar SB, Snieder H, Wang X, Ge D, Swaminathan R, Spector TD, O'Dell SD. SHP-2 and PI3-kinase genes PTPN11 and PIK3R1 may influence serum apoB and LDL cholesterol levels in normal women. Atherosclerosis. 2007 Oct;194(2):e26-33.
Jamshidi Y, Snieder H, Wang X, Pavitt MJ, Spector TD, Carter ND, O'Dell SD. Phosphatidylinositol 3-kinase p85alpha regulatory subunit gene PIK3R1 haplotype is associated with body fat and serum leptin in a female twin population. Diabetologia. 2006 Nov;49(11):2659-67.
Jamshidi Y, Snieder H, Wang X, Spector TD, Carter ND, O'Dell SD. Common polymorphisms in SOCS3 are not associated with body weight, insulin sensitivity or lipid profile in normal female twins. Diabetologia. 2006 Feb;49(2):306-10.
Chanalaris A, Lawrence KM, Townsend PA, Davidson S, Jamshidi Y, Stephanou A, Knight RD, Hsu SY, Hsueh AJ, Latchman DS. Hypertrophic effects of urocortin homologous peptides are mediated via activation of the Akt pathway. Biochem Biophys Res Commun. 2005 Mar 11;328(2):442-8.
Jamshidi Y, Zourlidou A, Carroll CJ, Sinclair J, Latchman DS. Signal-transduction pathways involved in the hypertrophic effect of hsp56 in neonatal cardiomyocytes. J Mol Cell Cardiol. 2004 Mar;36(3):381-92.
Woods DR, Pollard AJ, Collier DJ, Jamshidi Y, Vassiliou V, Hawe E, Humphries SE, Montgomery HE. Insertion/deletion polymorphism of the angiotensin I-converting enzyme gene and arterial oxygen saturation at high altitude. Am J Respir Crit Care Med. 2002 Aug 1;166(3):362-6.
Jamshidi Y, Flavell DM, Hawe E, MacCallum PK, Meade TW, Humphries SE. Genetic determinants of the response to bezafibrate treatment in the lower extremity arterial disease event reduction (LEADER) trial. Atherosclerosis. 2002 Jul;163(1):183-92.
Woods DR, World M, Rayson MP, Williams AG, Jubb M, Jamshidi Y, Hayward M, Mary DA, Humphries SE, Montgomery HE. Endurance enhancement related to the human angiotensin I-converting enzyme I-D polymorphism is not due to differences in the cardiorespiratory response to training. Eur J Appl Physiol. 2002 Jan;86(3):240-4.
Pineda Torra I, Jamshidi Y, Flavell DM, Fruchart JC, Staels B. Characterization of the human PPARalpha promoter: identification of a functional nuclear receptor response element. Mol Endocrinol. 2002 May;16(5):1013-28.
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. Peroxisome proliferator-activated receptor alpha gene variants influence progression of coronary atherosclerosis and risk of coronary artery disease. Circulation. 2002 Mar 26;105(12):1440-5.
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. Peroxisome proliferator--activated receptor alpha gene regulates left ventricular growth in response to exercise and hypertension. Circulation. 2002 Feb 26;105(8):950-5.
Woods D, Hickman M, Jamshidi Y, Brull D, Vassiliou V, Jones A, Humphries S, Montgomery H. Elite swimmers and the D allele of the ACE I/D polymorphism. Hum Genet. 2001 Mar;108(3):230-2.
Flavell DM, Pineda Torra I, Jamshidi Y, Evans D, Diamond JR, Elkeles RS, Bujac SR, Miller G, Talmud PJ, Staels B, Humphries SE. Variation in the PPARalpha gene is associated with altered function in vitro and plasma lipid concentrations in Type II diabetic subjects. Diabetologia. 2000 May;43(5):673-80.