Jorge Pinto‐Basto - Concepedia

Author

Jorge Pinto‐Basto

Universidade do Porto

Also Known As

J Pinto-Basto, J Pinto‐Basto, J. Pinto-Basto, J. Pinto‐Basto, Jorge Pinto-Basto, Jorge Pinto‐Basto

Publications

808

Citations

H-Index

Concepts

All Affiliations

Universidade do Porto Centro de Genética Clínica Instituto de Biologia Molecular e Celular Medigene (Germany)University of Minho

About

Jorge Pinto‐Basto is an author at Universidade do Porto specializing in medicine, genetics, and genetic epidemiology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	291
2	Public Health	4	4	173
3	Epidemiology	2	2	86
4	Biostatistics	1	1	14
5	Child Development	1	1	70

Jorge Pinto‐Basto

Publications

650

Citations

H-Index

Page 1

	Year	Citations
Trinucleotide Repeats in 202 Families With Ataxia Isabel Silveira, Carlos J. Miranda, Laura Guimarães, Archives of Neurology	2002	165
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, Clinical Genetics GeneticsGenetic EpidemiologyDisease Gene IdentificationGenetic MedicineClinical Genetics	2010	73
Osteopathia striata with cranial sclerosis owing to <i>WTX</i> gene defect Bram Perdu, Fenna de Freitas, Suzanna G.M. Frints, Journal of Bone and Mineral Research SclerostinOsteopathyNeurological DisorderGeneticsPathology	2009	71
Inherited and acquired risk factors and their combined effects in pediatric stroke Sameiro Barreirinho, Anabela Ferro, Manuela Santos, Pediatric Neurology Cardiovascular DiseaseMedicineGenetic EpidemiologyPediatricsPediatric Stroke	2003	70
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, Genetics in Medicine	2019	48
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the <i>IDS</i> gene is prone to splicing mutations Sandra Alves, M. Mangas, Maria João Prata, Journal of Inherited Metabolic Disease	2006	41
Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin Mònica Santos, Maria do Carmo Costa, Maria Edite Rio, Multiple Sclerosis Journal	2004	32
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients Lígia S. Almeida, Catarina Pereira, Ruxandra Aanicai, European Journal of Human Genetics	2022	29
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations Conceição Pereira, José Leal Loureiro, Jorge Pinto‐Basto, Genetics in Medicine GeneticsGenome StructureMolecular BiologyMolecular GeneticsChromosomal Rearrangement	2012	27
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease Fátima Lopes, Gabriela Soares, Miguel Gonçalves-Rocha, Frontiers in Genetics	2017	23

Page 1