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Page 1
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Ann Hum Genet. 2024 Mar;88(2):113-125. doi: 10.1111/ahg.12532. Epub 2023 Oct 9.
Ann Hum Genet. 2024.
PMID: 37807935
A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis.
Guarischi-Sousa R, Kroll JE, Bonaldi A, Pierry PM, Villela D, Souza CA, Silva JS, Bürger MC, Oliveira FA, de Paula MG, Meliso FM, de Almeida LG, Monfredini PM, de Oliveira AG, Milanezi F, Scapulatempo-Neto C, Yamamoto GL.
Guarischi-Sousa R, et al. Among authors: bonaldi a.
Diagnostics (Basel). 2023 Oct 24;13(21):3293. doi: 10.3390/diagnostics13213293.
Diagnostics (Basel). 2023.
PMID: 37958189
Free PMC article.
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Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
Bonaldi A, Mazzeu JF, Costa SS, Honjo RS, Bertola DR, Albano LM, Furquim IM, Kim CA, Vianna-Morgante AM.
Bonaldi A, et al.
Am J Med Genet A. 2011 Oct;155A(10):2479-83. doi: 10.1002/ajmg.a.34023. Epub 2011 Sep 9.
Am J Med Genet A. 2011.
PMID: 21910219
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The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.
Fonseca AC, Bonaldi A, Fonseca SA, Otto PA, Kok F, Bak M, Tommerup N, Vianna-Morgante AM.
Fonseca AC, et al. Among authors: bonaldi a.
Mol Cytogenet. 2015 Dec 30;8:106. doi: 10.1186/s13039-015-0205-9. eCollection 2015.
Mol Cytogenet. 2015.
PMID: 26719771
Free PMC article.
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The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.
Fonseca AC, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM.
Fonseca AC, et al. Among authors: bonaldi a.
BMC Med Genet. 2013 May 7;14:50. doi: 10.1186/1471-2350-14-50.
BMC Med Genet. 2013.
PMID: 23648064
Free PMC article.
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