Gabriela Ferraz Leal

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn et al. · Nature Genetics · 2011 · 263 citations

Life Sciences, Genetics, Molecular Genetics +12

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake et al. · The American Journal of Human Genetics · 2013 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature

Fabíola Paoli Monteiro, Társis Paiva Vieira, Ilária Cristina Sgardioli et al. · European Journal of Pediatrics · 2013 · 68 citations

Public Health, Psychiatry, Genetic Counseling +6

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

Adriana Valéria Sales Bispo, Pollyanna Burégio-Frota, Luana Oliveira dos Santos et al. · Reproduction Fertility and Development · 2013 · 51 citations

Life Sciences, Genetics, Molecular Genetics +17

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

Virginie G. Peter, Mathieu Quinodoz, Jorge Pinto‐Basto et al. · Genetics in Medicine · 2019 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17