G. Tolezano

Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma

C. Kim, C. Rosenberg, D. Bertola, 2020, Pediatric blood & cancer.

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

M. Scliar, C. Rosenberg, E. Novak, 2021, Frontiers in Genetics.

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.

M. Passos-Bueno, C. Kim, A. Vianna-Morgante, 2022, Journal of autism and developmental disorders.

Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes

A. Krepischi, G. Tolezano, Giovanna Civitate Bastos, 2022, Genes.

Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication

A. Vianna-Morgante, M. Scliar, C. Rosenberg, 2021, International journal of molecular and cellular medicine.

Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants

A. Vianna-Morgante, C. Rosenberg, P. Otto, 2023, Molecular Neurobiology.

A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.

L. Bicknell, A. Krepischi, G. Tolezano, 2023, American journal of medical genetics. Part A.