carla rosenberg
Universidade de São Paulo
H-index: 50
Latin America-Brazil
Top articles of carla rosenberg
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis | Laura Machado Lara Carvalho Alexander Augusto de Lima Jorge Débora Romeo Bertola Ana Cristina Victorino Krepischi Carla Rosenberg | 2024/1/26 | |
Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil | American Journal of Medical Genetics Part A | Michele P Migliavacca Joselito Sobreira Diana Bermeo Mireille Gomes Dayse Alencar | 2024/1/23 |
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders | Molecular Neurobiology | Giovanna Cantini Tolezano Giovanna Civitate Bastos Silvia Souza da Costa Marília de Oliveira Scliar Carolina Fischinger Moura de Souza | 2024/1/5 |
A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five … | Chromosome Research | Silvia Souza da Costa Veniamin Fishman Mara Pinheiro Andre Rodrigueiro Maria Teresa Sanseverino | 2024/3/19 |
Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting | Annals of Human Genetics | Patricia C Mazzonetto Darine Villela Silvia Souza da Costa Ana CV Krepischi Fernanda Milanezi | 2024/3 |
Burden of rare copy number variants in microcephaly: A brazilian cohort of 185 microcephalic patients and review of the literature | Giovanna Cantini Tolezano Giovanna Civitate Bastos Silvia Souza da Costa Bruna Lucheze Freire Thais Kataoka Homma | 2022/12/11 | |
SCAF4‐related syndromic intellectual disability | American Journal of Medical Genetics Part A | Laura Machado Lara Carvalho Carla Franchi Pinto Marília de Oliveira Scliar Paulo A Otto Ana Cristina Victorino Krepischi | 2023/2 |
Expanding the phenotype of 8p23. 1 deletion syndrome: eight new cases resembling the clinical spectrum of 22q11. 2 microdeletion | The Journal of Pediatrics | Marília Moreira Montenegro Débora Camilotti Caio Robledo D’Anglioli Costa Quaio Yanca Gasparini Évelin Aline Zanardo | 2023/1/1 |
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 CV Krepischi Paulo M Pierry Adriano Bonaldi | 2023/12/28 | |
Skewed X-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants | Molecular Neurobiology | Luiza D Chaves Laura ML Carvalho Giovanna C Tolezano Sara F Pires Silvia S Costa | 2023/7 |
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome | Gene | Laura Machado Lara Carvalho Elisa Varella Branco Raquel Delgado Sarafian Gerson Shigeru Kobayashi Fabiano Tófoli de Araújo | 2023/6/30 |
Fissuras raras da face e apêndices finger-like: desorganização em seres humanos | Anais | Henrique Regonaschi Serigatto Luiza do Amaral Virmond Nancy Mizue Kokitsu-Nakata Siulan Vendramini-Pittoli Carla Rosenberg | 2022 |
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes | Clinical Genetics | Claudia Ismania Samogy Costa Eduarda Morgana da Silva Montenegro Mehdi Zarrei Eloísa de Sá Moreira Isabela Maya Wahys Silva | 2022/1 |
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome | Genetics in Medicine | Congcong Ma Na Chen Angad Jolly Sen Zhao Zeynep Coban-Akdemir | 2022/11/1 |
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil | Scientific Reports | Ana CV Krepischi Darine Villela Silvia Souza da Costa Patricia C Mazzonetto Juliana Schauren | 2022/9/7 |
Genetic investigation of syndromic forms of obesity | International Journal of Obesity | Laura Machado Lara Carvalho Carla Sustek D’Angelo Darine Villela Silvia Souza da Costa Alexander Augusto de Lima Jorge | 2022/9 |
Unraveling the genetic architecture of hepatoblastoma risk: birth defects and increased burden of germline damaging variants in gastrointestinal/renal cancer predisposition and … | Frontiers in Genetics | Talita Aguiar Anne Teixeira Marilia O Scliar Juliana Sobral de Barros Renan B Lemes | 2022/4/12 |
Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder | Molecular psychiatry | K Griesi-Oliveira Mariana Soares Fogo BGG Pinto AY Alves AM Suzuki | 2021/5 |
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms | Clinical Genetics | Letícia Alves da Rocha Lucas Vieira Lacerda Pires Guilherme Lopes Yamamoto Jose Ricardo Magliocco Ceroni Rachel Sayuri Honjo | 2021/11 |
A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review | Laura ML Carvalho Carla S D’Angelo Zan Mustacchi Israel T da Silva Ana Cristina V Krepischi | 2021/3/1 |
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