Jorge Pinto‐Basto

Trinucleotide Repeats in 202 Families With Ataxia

Isabel Silveira, Carlos J. Miranda, Laura Guimarães et al. · Archives of Neurology · 2002 · 165 citations

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population

Jorge Sequeiros, E.M. Ramos, José Paulo Almeida Cerqueira et al. · Clinical Genetics · 2010 · 73 citations

Genetics, Genetic Epidemiology, Disease Gene Identification +18

Osteopathia striata with cranial sclerosis owing to <i>WTX</i> gene defect

Bram Perdu, Fenna de Freitas, Suzanna G.M. Frints et al. · Journal of Bone and Mineral Research · 2009 · 71 citations · Full text

Sclerostin, Osteopathy, Neurological Disorder +17

Inherited and acquired risk factors and their combined effects in pediatric stroke

Sameiro Barreirinho, Anabela Ferro, Manuela Santos et al. · Pediatric Neurology · 2003 · 70 citations · Full text

Cardiovascular Disease, Medicine, Genetic Epidemiology +13

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 · 48 citations · Full text