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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium; Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P. Siekierska A, et al. Among authors: jordan e. Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w. Nat Commun. 2019. PMID: 30755616 Free PMC article.
SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.
Cowan JR, Salyer L, Wright NT, Kinnamon DD, Amaya P, Jordan E, Bamshad MJ, Nickerson DA, Hershberger RE. Cowan JR, et al. Among authors: jordan e. Circ Genom Precis Med. 2020 Aug;13(4):e002892. doi: 10.1161/CIRCGEN.119.002892. Epub 2020 Jun 30. Circ Genom Precis Med. 2020. PMID: 32603605 Free PMC article.
A moiré deflectometer for antimatter.
Aghion S, Ahlén O, Amsler C, Ariga A, Ariga T, Belov AS, Berggren K, Bonomi G, Bräunig P, Bremer J, Brusa RS, Cabaret L, Canali C, Caravita R, Castelli F, Cerchiari G, Cialdi S, Comparat D, Consolati G, Derking H, Di Domizio S, Di Noto L, Doser M, Dudarev A, Ereditato A, Ferragut R, Fontana A, Genova P, Giammarchi M, Gligorova A, Gninenko SN, Haider S, Huse T, Jordan E, Jørgensen LV, Kaltenbacher T, Kawada J, Kellerbauer A, Kimura M, Knecht A, Krasnický D, Lagomarsino V, Lehner S, Magnani A, Malbrunot C, Mariazzi S, Matveev VA, Moia F, Nebbia G, Nédélec P, Oberthaler MK, Pacifico N, Petràček V, Pistillo C, Prelz F, Prevedelli M, Regenfus C, Riccardi C, Røhne O, Rotondi A, Sandaker H, Scampoli P, Storey J, Vasquez MA, Špaček M, Testera G, Vaccarone R, Widmann E, Zavatarelli S, Zmeskal J. Aghion S, et al. Among authors: jordan e. Nat Commun. 2014 Jul 28;5:4538. doi: 10.1038/ncomms5538. Nat Commun. 2014. PMID: 25066810 Free PMC article.
Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.
Morales A, Kinnamon DD, Jordan E, Platt J, Vatta M, Dorschner MO, Starkey CA, Mead JO, Ai T, Burke W, Gastier-Foster J, Jarvik GP, Rehm HL, Nickerson DA, Hershberger RE; DCM Precision Medicine study of the DCM Consortium; DCM Consortium institutions and personnel participating in this study: Study Principal Investigator and Co-Investigators,DCM Consortium Clinical Site Principal Investigators and Clinical Site Other Significant Contributors (OSC). The following clinical sites and individuals contributed to the submission of RO 1 H L 128857 as Site Principal Investigators (Site Pl) or as Other Significant Contributors (OSC),Dr. Huggins also served as study co-principal investigator,The following clinical site was added following approval of NHGRI supplemental funding but prior to initiation of enrollment,The following clinical sites were added following study activation. Morales A, et al. Among authors: jordan e. Circ Genom Precis Med. 2020 Apr;13(2):e002480. doi: 10.1161/CIRCGEN.119.002480. Epub 2020 Mar 11. Circ Genom Precis Med. 2020. PMID: 32160020 Free PMC article.
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.
James CA, Jongbloed JDH, Hershberger RE, Morales A, Judge DP, Syrris P, Pilichou K, Domingo AM, Murray B, Cadrin-Tourigny J, Lekanne Deprez R, Celeghin R, Protonotarios A, Asatryan B, Brown E, Jordan E, McGlaughon J, Thaxton C, Kurtz CL, van Tintelen JP. James CA, et al. Among authors: jordan e. Circ Genom Precis Med. 2021 Jun;14(3):e003273. doi: 10.1161/CIRCGEN.120.003273. Epub 2021 Apr 8. Circ Genom Precis Med. 2021. PMID: 33831308 Free PMC article. Clinical Trial.
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
Jordan E, Peterson L, Ai T, Asatryan B, Bronicki L, Brown E, Celeghin R, Edwards M, Fan J, Ingles J, James CA, Jarinova O, Johnson R, Judge DP, Lahrouchi N, Lekanne Deprez RH, Lumbers RT, Mazzarotto F, Medeiros Domingo A, Miller RL, Morales A, Murray B, Peters S, Pilichou K, Protonotarios A, Semsarian C, Shah P, Syrris P, Thaxton C, van Tintelen JP, Walsh R, Wang J, Ware J, Hershberger RE. Jordan E, et al. Circulation. 2021 Jul 6;144(1):7-19. doi: 10.1161/CIRCULATIONAHA.120.053033. Epub 2021 May 5. Circulation. 2021. PMID: 33947203 Free PMC article.
Prevalence and Cumulative Risk of Familial Idiopathic Dilated Cardiomyopathy.
Huggins GS, Kinnamon DD, Haas GJ, Jordan E, Hofmeyer M, Kransdorf E, Ewald GA, Morris AA, Owens A, Lowes B, Stoller D, Tang WHW, Garg S, Trachtenberg BH, Shah P, Pamboukian SV, Sweitzer NK, Wheeler MT, Wilcox JE, Katz S, Pan S, Jimenez J, Aaronson KD, Fishbein DP, Smart F, Wang J, Gottlieb SS, Judge DP, Moore CK, Mead JO, Ni H, Burke W, Hershberger RE; DCM Precision Medicine Study of the DCM Consortium. Huggins GS, et al. Among authors: jordan e. JAMA. 2022 Feb 1;327(5):454-463. doi: 10.1001/jama.2021.24674. JAMA. 2022. PMID: 35103767 Free PMC article.
502 results