Nathan dadali
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Novel mutation identification and copy-number variant detection via exome sequencing in congenital muscular dystrophy. European Journal of Human Genetics 2020 Nov 28(11):1509-1519.Ĭauley ES, Pittman A, Mummidivarpu S, Karimiani EG, Martinez S, Moroni I, Boostani R, Podini D, Mora M, Jamshidi Y, Hoffman EP, Manzini MC. Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. 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. Causal graphs for the analysis of genetic cohort data. Hines O^^, Diaz-Ordaz K, Vansteelandt S, Jamshidi Y. The American Journal of Human Genetics 2020 Aug 6 107(2):311-324.
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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. Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MY元. 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*.