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Page 1
Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'.
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. Forzano F, et al. Among authors: jamshidi y. Eur J Hum Genet. 2023 Mar;31(3):368. doi: 10.1038/s41431-022-01263-y. Eur J Hum Genet. 2023. PMID: 36536147 Free PMC article. No abstract available.
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'.
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. Forzano F, et al. Among authors: jamshidi y. Eur J Hum Genet. 2023 Mar;31(3):279-281. doi: 10.1038/s41431-022-01241-4. Epub 2022 Dec 1. Eur J Hum Genet. 2023. PMID: 36450798 Free PMC article. No abstract available.
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. Schmidts M, et al. Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Nat Commun. 2015. PMID: 26044572 Free PMC article.
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. Haworth S, et al. Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x. Nat Commun. 2019. PMID: 30664637 Free PMC article.
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… See abstract for full author list ➔ Ntalla I, et al. Among authors: jamshidi y. Nat Commun. 2020 May 21;11(1):2542. doi: 10.1038/s41467-020-15706-x. Nat Commun. 2020. PMID: 32439900 Free PMC article.
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Young WJ, Lahrouchi N, Isaacs A, Duong T, Foco L, Ahmed F, Brody JA, Salman R, Noordam R, Benjamins JW, Haessler J, Lyytikäinen LP, Repetto L, Concas MP, van den Berg ME, Weiss S, Baldassari AR, Bartz TM, Cook JP, Evans DS, Freudling R, Hines O, Isaksen JL, Lin H, Mei H, Moscati A, Müller-Nurasyid M, Nursyifa C, Qian Y, Richmond A, Roselli C, Ryan KA, Tarazona-Santos E, Thériault S, van Duijvenboden S, Warren HR, Yao J, Raza D, Aeschbacher S, Ahlberg G, Alonso A, Andreasen L, Bis JC, Boerwinkle E, Campbell A, Catamo E, Cocca M, Cutler MJ, Darbar D, De Grandi A, De Luca A, Ding J, Ellervik C, Ellinor PT, Felix SB, Froguel P, Fuchsberger C, Gögele M, Graff C, Graff M, Guo X, Hansen T, Heckbert SR, Huang PL, Huikuri HV, Hutri-Kähönen N, Ikram MA, Jackson RD, Junttila J, Kavousi M, Kors JA, Leal TP, Lemaitre RN, Lin HJ, Lind L, Linneberg A, Liu S, MacFarlane PW, Mangino M, Meitinger T, Mezzavilla M, Mishra PP, Mitchell RN, Mononen N, Montasser ME, Morrison AC, Nauck M, Nauffal V, Navarro P, Nikus K, Pare G, Patton KK, Pelliccione G, Pittman A, Porteous DJ, Pramstaller PP, Preuss MH, Raitakari OT, Reiner AP, Ribeiro ALP, Rice KM, Risch L, Schlessinger D, Schotten U, Schurmann C, Shen X… See abstract for full author list ➔ Young WJ, et al. Among authors: jamshidi y. Nat Commun. 2022 Sep 1;13(1):5144. doi: 10.1038/s41467-022-32821-z. Nat Commun. 2022. PMID: 36050321 Free PMC article.
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.
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. Kraatari-Tiri M, et al. Among authors: jamshidi y. Clin Genet. 2022 Nov;102(5):444-450. doi: 10.1111/cge.14203. Epub 2022 Aug 19. Clin Genet. 2022. PMID: 35908151 Free PMC article. Review.
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. Taylor PN, et al. Nat Commun. 2015 Mar 6;6:5681. doi: 10.1038/ncomms6681. Nat Commun. 2015. PMID: 25743335 Free PMC article.
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