Uirá Souto Melo - Concepedia

Author

Uirá Souto Melo

Universidade de São Paulo ORCID

Also Known As

Melo, Uirá Souto, U S Melo, U Souto Melo, U.S. Melo, Uira Souto Melo, Uirá S Melo, Uirá S. Melo, Uirá Souto Melo

Publications

1.3K

Citations

H-Index

Concepts

All Affiliations

Universidade de São Paulo Max Planck Institute for Molecular Genetics Charité - Universitätsmedizin Berlin Universidade Estadual da Paraíba University of Lübeck

About

Uirá Souto Melo is an author at Universidade de São Paulo specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	772
2	Natural Sciences	1	1	360
3	Social Sciences	1	1	21
4	Anatomy	1	1	360
5	Biology	1	1	360

Uirá Souto Melo

Publications

1.2K

Citations

H-Index

Page 1

	Year	Citations
Progressive Loss of Function in a Limb Enhancer during Snake Evolution Evgeny Z. Kvon, Olga K. Kamneva, Uirá Souto Melo, Cell BiologyDevelopmental BiologyProgressive LossMedicineNatural Sciences	2016	360
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells Luiz C. Caires-Júnior, Ernesto Goulart, Uirá Souto Melo, Nature Communications	2018	124
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases Uirá Souto Melo, Robert Schöpflin, Rocío Acuña‐Hidalgo, The American Journal of Human Genetics Developmental BiologyGenetic DisorderGeneticsGenome StructureGenomic Mechanism	2020	122
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa Suzanne E. de Bruijn, Alessia Fiorentino, Stephanie Fanucchi, The American Journal of Human Genetics Retinal OrganoidsStructural VariantsDominant Retinitis PigmentosaOcular DiseasePhotoreceptor Cell	2020	118
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies Elizabeth E. Palmer, Rani Sachdev, Rebecca Macintosh, Neurology	2021	92
A novel complex neurological phenotype due to a homozygous mutation in FDX2 Juliana Gurgel‐Giannetti, David S. Lynch, Anderson Rodrigues Brandão de Paiva, Brain Muscle TissueNeurodegenerative DiseasesMuscle BiopsyMendelian DisorderNeurological Disorder	2018	51
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, Nature Communications	2022	45
Overexpression of<i>KLC2</i>due to a homozygous deletion in the non-coding region causes SPOAN syndrome Uirá Souto Melo, Lúcia Inês Macedo‐Souza, Thalita Figueiredo, Human Molecular Genetics Spoan SyndromeGeneticsMolecular BiologyPathologyMolecular Genetics	2015	42
Waardenburg syndrome: Novel mutations in a large Brazilian sample Magnolia Astrid Pretell Bocángel, Uirá Souto Melo, Leandro Ucela Alves, European Journal of Medical Genetics	2018	38
Homozygous missense mutation in <i>MED25</i> segregates with syndromic intellectual disability in a large consanguineous family Thalita Figueiredo, Uirá Souto Melo, André Luiz Santos Pessoa, Journal of Medical Genetics	2014	31

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