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Page 1
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: murali cn. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free article.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR. Miyake CY, et al. Among authors: murali cn. Genet Med. 2023 Apr;25(4):100352. doi: 10.1016/j.gim.2022.11.020. Epub 2022 Dec 5. Genet Med. 2023. PMID: 36473599 Free PMC article. Review.
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
Landis BJ, Helvaty LR, Geddes GC, Lin JI, Yatsenko SA, Lo CW, Border WL, Wechsler SB, Murali CN, Azamian MS, Lalani SR, Hinton RB, Garg V, McBride KL, Hodge JC, Ware SM. Landis BJ, et al. Among authors: murali cn. J Am Heart Assoc. 2023 Sep 19;12(18):e029340. doi: 10.1161/JAHA.123.029340. Epub 2023 Sep 8. J Am Heart Assoc. 2023. PMID: 37681527 Free PMC article.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SCS, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K; Texome Project; Owen N, Vossaert L, Liu P, Bellen H, Wangler MF. Vuocolo B, et al. Among authors: murali cn. Genet Med. 2024 Feb 29;26(6):101102. doi: 10.1016/j.gim.2024.101102. Online ahead of print. Genet Med. 2024. PMID: 38431799
Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study.
Shepherd WS, Wiese AD, Cho HE, Rork WC, Baig MU, Kostick KM, Nguyen D, Carter EM; Members of the BBDC; Murali CN, Robinson ME, Schneider SC, Lee B, Sutton VR, Storch EA. Shepherd WS, et al. Among authors: murali cn. J Clin Psychol Med Settings. 2024 Jan 28. doi: 10.1007/s10880-023-09991-z. Online ahead of print. J Clin Psychol Med Settings. 2024. PMID: 38281305
A familial deletion of 10p12.1 associated with thrombocytopenia.
Manohar S, Gofin Y, Streff H, Vossaert L, Camacho P, Murali CN. Manohar S, et al. Among authors: murali cn. Am J Med Genet A. 2024 Jan;194(1):77-81. doi: 10.1002/ajmg.a.63403. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37746810
Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.
Murali CN, Barber JR, McCarter R, Zhang A, Gallant N, Simpson K, Dorrani N, Wilkening GN, Hays RD, Lichter-Konecki U; Members of the Urea Cycle Disorders Consortium; Burrage LC, Nagamani SCS. Murali CN, et al. Mol Genet Metab. 2023 Nov;140(3):107696. doi: 10.1016/j.ymgme.2023.107696. Epub 2023 Sep 8. Mol Genet Metab. 2023. PMID: 37690181 Review.
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR. Shieh JT, et al. Among authors: murali cn. HGG Adv. 2023 Oct 12;4(4):100236. doi: 10.1016/j.xhgg.2023.100236. Epub 2023 Sep 3. HGG Adv. 2023. PMID: 37660254 Free PMC article.
25 results