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104 results

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Page 1
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Li S, Zhao S, Sinson JC, Bajic A, Rosenfeld JA, Neeley MB, Pena M, Worley KC, Burrage LC, Weisz-Hubshman M, Ketkar S, Craigen WJ, Clark GD, Lalani S, Bacino CA, Machol K, Chao HT, Potocki L, Emrick L, Sheppard J, Nguyen MTT, Khoramnia A, Hernandez PP, Nagamani SC, Liu Z; Undiagnosed Diseases Network; Eng CM, Lee B, Liu P. Li S, et al. Among authors: nagamani sc. Am J Hum Genet. 2024 May 2;111(5):841-862. doi: 10.1016/j.ajhg.2024.03.007. Epub 2024 Apr 8. Am J Hum Genet. 2024. PMID: 38593811
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S, Jin Z, Shchelochkov OA, Burrage LC, Reddy AK, Jiang H, Abo-Zahrah R, Ma S, Zhang P, Bissig KD, Kim JJ, Devaraj S, Rodney GG, Erez A, Bryan NS, Nagamani SCS, Lee BH. Kho J, et al. Am J Hum Genet. 2018 Aug 2;103(2):276-287. doi: 10.1016/j.ajhg.2018.07.008. Am J Hum Genet. 2018. PMID: 30075114 Free PMC article. Clinical Trial.
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: nagamani scs. Genet Med. 2024 Feb 29;26(6):101102. doi: 10.1016/j.gim.2024.101102. Online ahead of print. Genet Med. 2024. PMID: 38431799
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391
Argininosuccinate lyase deficiency.
Nagamani SC, Erez A, Lee B. Nagamani SC, et al. Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241104 Free PMC article. Review.
Optimizing therapy for argininosuccinic aciduria.
Nagamani SC, Lee B, Erez A. Nagamani SC, et al. Mol Genet Metab. 2012 Sep;107(1-2):10-4. doi: 10.1016/j.ymgme.2012.07.009. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22841516 Free PMC article. Review.
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Campbell IM, et al. Among authors: nagamani sc. Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31. Am J Hum Genet. 2014. PMID: 25087610 Free PMC article.
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC. Posey JE, et al. Among authors: nagamani sc. Am J Med Genet A. 2015 Jun;167(6):1309-14. doi: 10.1002/ajmg.a.36899. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25846959 Free PMC article.
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD; Members of the UCDC,; Milosavljevic A, Lee BH, Elsea SH. Burrage LC, et al. Genet Med. 2019 Sep;21(9):1977-1986. doi: 10.1038/s41436-019-0442-0. Epub 2019 Jan 23. Genet Med. 2019. PMID: 30670878 Free PMC article.
104 results