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VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.
Du H, Lun MY, Gagarina L, Mehaffey MG, Hwang JP, Jhangiani SN, Bhamidipati SV, Muzny DM, Poli MC, Ochoa S, Chinn IK, Linstrand A, Posey JE, Gibbs RA, Lupski JR, Carvalho CMB. Du H, et al. Among authors: carvalho cmb. bioRxiv [Preprint]. 2024 Oct 29:2024.10.27.620363. doi: 10.1101/2024.10.27.620363. bioRxiv. 2024. PMID: 39553991 Free PMC article. Preprint.
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.
Bilgrav Saether K, Eisfeldt J, Bengtsson JD, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Ek M, Schuy J, Ameur A, Dai H; Undiagnosed Diseases Network; Hwang JP, Sedlazeck FJ, Bi W, Marom R, Wincent J, Nordgren A, Carvalho CMB, Lindstrand A. Bilgrav Saether K, et al. Among authors: carvalho cmb. Genome Res. 2024 Nov 1. doi: 10.1101/gr.279346.124. Online ahead of print. Genome Res. 2024. PMID: 39486878 Free article.
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.
Bajikar SS, Sztainberg Y, Trostle AJ, Tirumala HP, Wan YW, Harrop CL, Bengtsson JD, Carvalho CMB, Pehlivan D, Suter B, Neul JL, Liu Z, Jafar-Nejad P, Rigo F, Zoghbi HY. Bajikar SS, et al. Among authors: carvalho cmb. Hum Mol Genet. 2024 Nov 8;33(22):1986-2001. doi: 10.1093/hmg/ddae135. Hum Mol Genet. 2024. PMID: 39277796 Free PMC article.
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32.
Dardas Z, Marafi D, Duan R, Fatih JM, El-Rashidy OF, Grochowski CM, Carvalho CMB, Jhangiani SN, Bi W, Du H, Gibbs RA, Posey JE, Calame DG, Zaki MS, Lupski JR. Dardas Z, et al. Among authors: carvalho cmb. Eur J Hum Genet. 2024 Sep 10. doi: 10.1038/s41431-024-01680-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39256534
Surveillance of Erythrovirus B19 (B19V) in patients with acute febrile illness suspected of arboviruses in Mato Grosso do Sul state, Brazil.
Lichs GGC, Fernandez ZDC, do Nascimento VA, Alcantara DMC, Lemos EF, Carvalho CME, Demarchi LHF, Gonçalves CCM, Naveca FG, Favacho ARM. Lichs GGC, et al. Among authors: carvalho cme. Front Microbiol. 2024 Jul 18;15:1417434. doi: 10.3389/fmicb.2024.1417434. eCollection 2024. Front Microbiol. 2024. PMID: 39091305 Free PMC article.
A hybrid model for predicting response to risperidone after first episode of psychosis.
Costa GO, Ota VK, Luiz MR, Rosa JS, Xavier G, Mauer JH, Santoro ML, Carvalho CM, Cavalcante DA, Bugiga AVG, Bressan RA, Breen G, Gadelha A, Noto C, Mazzotti DR, Belangero SI. Costa GO, et al. Among authors: carvalho cm. Braz J Psychiatry. 2024 Jul 29. doi: 10.47626/1516-4446-2024-3608. Online ahead of print. Braz J Psychiatry. 2024. PMID: 39074074 Free article.
Unveiling Drought-Resilient Latin American Popcorn Lines through Agronomic and Physiological Evaluation.
de Oliveira UA, do Amaral Junior AT, Leite JT, Kamphorst SH, de Lima VJ, Bispo RB, Ribeiro RM, Viana FN, Lamego DL, Carvalho CM, Simão BR, de Oliveira Santos T, Gonçalves GR, Campostrini E. de Oliveira UA, et al. Among authors: carvalho cm. Life (Basel). 2024 Jun 11;14(6):743. doi: 10.3390/life14060743. Life (Basel). 2024. PMID: 38929726 Free PMC article.
442 results