Concepedia
Statistics
Publications
5
Citations
91
H-Index
Active since
2010
Affiliations
Centro de Genética Clínica(Current)
Centogene (Germany)
Baylor College of Medicine
Texas Children's Hospital
Jorge Pinto Basto is an author at Centro de Genética Clínica specializing in genetic disorders, genetics, and molecular genetics.
Publications per year
2010–2023
Heterozygous variants in <i>SPTBN1</i> cause intellectual disability and autism
Jill A. Rosenfeld, Rui Xiao, Mir Reza Bekheirnia et al. · American Journal of Medical Genetics Part A · 2021 · 28 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
Pilar Guatibonza Moreno, Luba M. Pardo, Catarina Pereira et al. · European Journal of Human Genetics · 2023 · 21 citations · Full text
Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Rauan Kaiyrzhanov, Abolfazl Rad, Sheng‐Jia Lin et al. · Brain · 2023 · 18 citations · Full text
Life Sciences, Genetics, Molecular Genetics +14
DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine
Mariana Santos, Simão Cruz, João Peres et al. · Neuromuscular Disorders · 2017 · 13 citations
Medicine, Obstetrics, Pharmacotherapy +7
A NONSENSE<i>PORCN</i>MUTATION IN SEVERE FOCAL DERMAL HYPOPLASIA WITH NATAL TEETH
Cristina Dias, Jorge Pinto Basto, O. Pinho et al. · Fetal and Pediatric Pathology · 2010 · 11 citations
1–5 of 5