Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
Chaves, Luiza D., Carvalho, Laura M. L., Tolezano, Giovanna C., Pires, Sara F., Costa, Silvia S., de Scliar, Marília O., Giuliani, Liane de R., Bertola, Debora R., Santos-Rebouças, Cíntia B., Seo, Go Hun, Otto, Paulo A., Rosenberg, Carla, Vianna-Morgante, Angela M., Krepischi, Ana C. V.
Published in Molecular neurobiology (01.07.2023)
Published in Molecular neurobiology (01.07.2023)
Get full text
Journal Article
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes
Aguiar, Talita, Teixeira, Anne, Scliar, Marília O, Sobral de Barros, Juliana, Lemes, Renan B, Souza, Silvia, Tolezano, Giovanna, Santos, Fernanda, Tojal, Israel, Cypriano, Monica, Caminada de Toledo, Silvia Regina, Valadares, Eugênia, Borges Pinto, Raquel, Pinto Artigalas, Osvaldo Afonso, Caetano de Aguirre Neto, Joaquim, Novak, Estela, Cristofani, Lilian Maria, Miura Sugayama, Sofia M, Odone, Vicente, Cunha, Isabela Werneck, Lima da Costa, Cecilia Maria, Rosenberg, Carla, Krepischi, Ana
Published in Frontiers in genetics (12.04.2022)
Published in Frontiers in genetics (12.04.2022)
Get full text
Journal Article
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly
Fellows, Bridget J., Tolezano, Giovanna Cantini, Pires, Sara Ferreira, Ruegg, Mischa S. G., Knapp, Karen M., Krepischi, Ana Cristina Victorino, Bicknell, Louise S.
Published in American journal of medical genetics. Part A (01.03.2024)
Published in American journal of medical genetics. Part A (01.03.2024)
Get full text
Journal Article
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma
Pires, Sara Ferreira, Tolezano, Giovanna Cantini, da Costa, Silvia Souza, Kawahira, Rachel Sayuri Honjo, Kim, Chong Ae, Rosenberg, Carla, Teixeira, Anne Caroline Barbosa, Bertola, Debora Romeo, Krepischi, Ana Cristina Victorino
Published in Pediatric blood & cancer (01.11.2020)
Published in Pediatric blood & cancer (01.11.2020)
Get full text
Journal Article
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
Tolezano, Giovanna Cantini, Bastos, Giovanna Civitate, da Costa, Silvia Souza, Freire, Bruna Lucheze, Homma, Thais Kataoka, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Passos-Bueno, Maria Rita, Koiffmann, Celia Priszkulnik, Kim, Chong Ae, Vianna-Morgante, Angela Maria, de Lima Jorge, Alexander Augusto, Bertola, Débora Romeo, Rosenberg, Carla, Krepischi, Ana Cristina Victorino
Published in Journal of autism and developmental disorders (01.03.2024)
Published in Journal of autism and developmental disorders (01.03.2024)
Get full text
Journal Article
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders
Tolezano, Giovanna Cantini, Bastos, Giovanna Civitate, da Costa, Silvia Souza, Scliar, Marília de Oliveira, de Souza, Carolina Fischinger Moura, Van Der Linden Jr, Hélio, Fernandes, Walter Luiz Magalhães, Otto, Paulo Alberto, Vianna-Morgante, Angela M., Haddad, Luciana Amaral, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Kim, Chong Ae, Rosenberg, Carla, Jorge, Alexander Augusto de Lima, Bertola, Débora Romeo, Krepischi, Ana Cristina Victorino
Published in Molecular neurobiology (01.08.2024)
Published in Molecular neurobiology (01.08.2024)
Get full text
Journal Article
Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication
Tolezano, Giovanna Cantini, da Costa, Silvia Souza, Scliar, Marília de Oliveira, Fernandes, Walter Luis Magalhães, Otto, Paulo Alberto, Bertola, Débora Romeo, Rosenberg, Carla, Vianna-Morgante, Angela Maria, Krepischi, Ana Cristina Victorino
Published in International journal of molecular and cellular medicine (01.01.2020)
Published in International journal of molecular and cellular medicine (01.01.2020)
Get full text
Journal Article
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma
Pires, Sara Ferreira, Tolezano, Giovanna Cantini, da Costa, Silvia Souza, Kawahira, Rachel Sayuri Honjo, Kim, Chong Ae, Rosenberg, Carla, Teixeira, Anne Caroline Barbosa, Bertola, Debora Romeo, Krepischi, Ana Cristina Victorino
Published in Pediatric blood & cancer (01.11.2020)
Published in Pediatric blood & cancer (01.11.2020)
Get full text
Report