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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-19274-6
By:
- Krepischi, Ana C. V.;
- Villela, Darine;
- da Costa, Silvia Souza;
- Mazzonetto, Patricia C.;
- Schauren, Juliana;
- Migliavacca, Michele P.;
- Milanezi, Fernanda;
- Santos, Juliana G.;
- Guida, Gustavo;
- Guarischi-Sousa, Rodrigo;
- Campana, Gustavo;
- Kok, Fernando;
- Schlesinger, David;
- Kitajima, Joao Paulo;
- Campagnari, Francine;
- Bertola, Debora R.;
- Vianna-Morgante, Angela M.;
- Pearson, Peter L.;
- Rosenberg, Carla
Publication type:
Article
Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.
Published in:
Audiology Research, 2024, v. 14, n. 1, p. 9, doi. 10.3390/audiolres14010002
By:
- Bertani-Torres, William;
- Lezirovitz, Karina;
- Alencar-Coutinho, Danillo;
- Pardono, Eliete;
- da Costa, Silvia Souza;
- Antunes, Larissa do Nascimento;
- de Oliveira, Judite;
- Otto, Paulo Alberto;
- Pingault, Véronique;
- Mingroni-Netto, Regina Célia
Publication type:
Article
A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.
Published in:
Chromosome Research, 2024, v. 32, n. 2, p. 1, doi. 10.1007/s10577-024-09750-2
By:
- da Costa, Silvia Souza;
- Fishman, Veniamin;
- Pinheiro, Mara;
- Rodrigueiro, Andre;
- Sanseverino, Maria Teresa;
- Zielinsky, Paulo;
- Carvalho, Claudia M. B.;
- Rosenberg, Carla;
- Krepischi, Ana Cristina Victorino
Publication type:
Article
DNA methylation patterns suggest the involvement of DNMT3B and TET1 in osteosarcoma development.
Published in:
Molecular Genetics & Genomics, 2023, v. 298, n. 3, p. 721, doi. 10.1007/s00438-023-02010-8
By:
- Pires, Sara Ferreira;
- de Barros, Juliana Sobral;
- da Costa, Silvia Souza;
- de Oliveira Scliar, Marília;
- Van Helvoort Lengert, André;
- Boldrini, Érica;
- da Silva, Sandra Regina Morini;
- Tasic, Ljubica;
- Vidal, Daniel Onofre;
- Krepischi, Ana Cristina Victorino;
- Maschietto, Mariana
Publication type:
Article
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Published in:
Journal of Autism & Developmental Disorders, 2024, v. 54, n. 3, p. 1181, doi. 10.1007/s10803-022-05853-z
By:
- 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
Publication type:
Article
A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma.
Published in:
2022
By:
- Nishi, Mirian Yumie;
- Faria Júnior, José Antônia Diniz;
- Krepischi, Ana Cristina Victorino;
- de Moraes, Daniela Rodrigues;
- da Costa, Silvia Souza;
- Silva, Elinaelma Suelane do Nascimento;
- Costa, Elaine Maria Frade;
- Mendonca, Berenice Bilharinho;
- Domenice, Sorahia
Publication type:
Case Study
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 134, doi. 10.1111/cge.14072
By:
- Costa, Claudia Ismania Samogy;
- da Silva Montenegro, Eduarda Morgana;
- Zarrei, Mehdi;
- de Sá Moreira, Eloísa;
- Silva, Isabela Maya Wahys;
- de Oliveira Scliar, Marília;
- Wang, Jaqueline Yu Ting;
- Zachi, Elaine Cristina;
- Branco, Elisa Varella;
- da Costa, Silvia Souza;
- Lourenço, Naila Cristina Vilaça;
- Vianna‐Morgante, Angela Maria;
- Rosenberg, Carla;
- Krepischi, Ana Cristina Victorino;
- Scherer, Stephen W.;
- Passos‐Bueno, Maria Rita
Publication type:
Article
Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting.
Published in:
Annals of Human Genetics, 2024, v. 88, n. 2, p. 113, doi. 10.1111/ahg.12532
By:
- Mazzonetto, Patricia C.;
- Villela, Darine;
- da Costa, Silvia Souza;
- Krepischi, Ana C. V.;
- Milanezi, Fernanda;
- Migliavacca, Michele P.;
- Pierry, Paulo M.;
- Bonaldi, Adriano;
- Almeida, Luiz Gustavo D.;
- De Souza, Camila Alves;
- Kroll, José Eduardo;
- Paula, Marcelo G.;
- Guarischi‐Sousa, Rodrigo;
- Scapulatempo‐Neto, Cristovam;
- Rosenberg, Carla
Publication type:
Article
Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing.
Published in:
Annals of Human Genetics, 2021, v. 85, n. 1, p. 18, doi. 10.1111/ahg.12402
By:
- Villela, Darine;
- Barros, Juliana Sobral;
- da Costa, Silvia Souza;
- Aguiar, Talita F. M.;
- Campagnari, Francine;
- Vianna‐Morgante, Angela M.;
- Krepischi, Ana C. V.;
- Rosenberg, Carla
Publication type:
Article
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.
Published in:
2020
By:
- 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
Publication type:
Case Study
Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10463, doi. 10.3390/ijms241310463
By:
- Pires, Sara Ferreira;
- Barros, Juliana Sobral de;
- Costa, Silvia Souza da;
- Carmo, Gabriel Bandeira do;
- Scliar, Marília de Oliveira;
- Lengert, André van Helvoort;
- Boldrini, Érica;
- Silva, Sandra Regini Morini da;
- Vidal, Daniel Onofre;
- Maschietto, Mariana;
- Krepischi, Ana Cristina Victorino
Publication type:
Article
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Published in:
Molecular Neurobiology, 2024, v. 61, n. 8, p. 5230, doi. 10.1007/s12035-023-03894-8
By:
- 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
Publication type:
Article

Found: 12