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Two patients with Canavan disease and structural modeling of a novel mutation.
Zaki OK, Krishnamoorthy N, El Abd HS, Harche SA, Mattar RA, Al Disi RS, Nofal MY, El Bekay R, Ahmed KA, George Priya Doss C, Zayed H. Zaki OK, et al. Among authors: krishnamoorthy n. Metab Brain Dis. 2017 Feb;32(1):171-177. doi: 10.1007/s11011-016-9896-9. Epub 2016 Aug 17. Metab Brain Dis. 2017. PMID: 27531131
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W, Al-Maraghi A, Syed N, Gandhi GD, Aliyev E, Al-Kurbi AA, Al-Saei O, Kohailan M, Krishnamoorthy N, Palaniswamy S, Al-Malki K, Abbasi S, Agrebi N, Abbaszadeh F, Akil ASA, Badii R, Ben-Omran T, Lo B; Qatar Genome Program Research Consortium; Mokrab Y, Fakhro KA. Aamer W, et al. Among authors: krishnamoorthy n. Genome Med. 2024 Apr 8;16(1):46. doi: 10.1186/s13073-024-01307-6. Genome Med. 2024. PMID: 38584274 Free PMC article.
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.
Morgan A, Vuckovic D, Krishnamoorthy N, Rubinato E, Ambrosetti U, Castorina P, Franzè A, Vozzi D, La Bianca M, Cappellani S, Di Stazio M, Gasparini P, Girotto G. Morgan A, et al. Among authors: krishnamoorthy n. Eur J Hum Genet. 2019 Jan;27(1):70-79. doi: 10.1038/s41431-018-0229-9. Epub 2018 Sep 3. Eur J Hum Genet. 2019. PMID: 30177775 Free PMC article.
Molecular modeling of disease causing mutations in domain C1 of cMyBP-C.
Gajendrarao P, Krishnamoorthy N, Kassem HSh, Moharem-Elgamal S, Cecchi F, Olivotto I, Yacoub MH. Gajendrarao P, et al. Among authors: krishnamoorthy n. PLoS One. 2013;8(3):e59206. doi: 10.1371/journal.pone.0059206. Epub 2013 Mar 19. PLoS One. 2013. PMID: 23527136 Free PMC article.
102 results