Publications by authors named "Adriano Bonaldi"

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Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.
Patricia C Mazzonetto, Darine Villela, Ana C V Krepischi, Paulo M Pierry, Adriano Bonaldi

Am J Med Genet A· November 2024

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Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Patricia C Mazzonetto, Darine Villela, Silvia Souza da Costa, Ana C V Krepischi, Fernanda Milanezi, Adriano Bonaldi

Ann Hum Genet· March 2024

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A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis.
Rodrigo Guarischi-Sousa, José Eduardo Kroll, Adriano Bonaldi, Paulo Marques Pierry, Darine Villela

Diagnostics (Basel)· October 2023

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The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.
Ana Carolina S Fonseca, Adriano Bonaldi, Simone A S Fonseca, Paulo A Otto, Fernando Kok

Mol Cytogenet· December 2015

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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.
Ana Carolina S Fonseca, Adriano Bonaldi, Débora R Bertola, Chong A Kim, Paulo A Otto

BMC Med Genet· May 2013

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Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
Adriano Bonaldi, Juliana F Mazzeu, Silvia S Costa, Rachel S Honjo, Débora R Bertola

Am J Med Genet A· October 2011

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