Author

Luis Pablo Gravina

Observed names: Gravina L., L Pablo Gravina, L. Gravina, L.P. Gravina, LP. Gravina, Luis Gravina, Luis P Gravina, Luis P. Gravina

Institution: Garrahan Hospital

Observed institution: Garrahan Hospital

ORCID: 0000-0002-1692-9936

Observed ORCID: 0000-0002-1692-9936

OpenAlex ID: A5047552850

Providing more evidence on LZTR1 variants in Noonan syndrome patients

2019 · Josefina Chinton, Victoria Huckstadt, et al. · American Journal of Medical Genetics Part A · 37

Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population

2007 · Luis Pablo Gravina, María Eugenia Foncuberta, et al. · International Journal of Pediatric Otorhinolaryngology · 34

Genotype–phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina

2016 · Sofía Medrano, Soledad Monges, et al. · European Journal of Paediatric Neurology · 33

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Change in Prevalence of Congenital Defects in Children With Prader-Willi Syndrome

2013 · M. Torrado, M.E. Foncuberta, et al. · PEDIATRICS · 32

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2

2009 · Luis Pablo Gravina, María Eugenia Foncuberta, et al. · International Journal of Pediatric Otorhinolaryngology · 28

Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina

2019 · Josefina Chinton, Victoria Huckstadt, et al. · Archivos Argentinos de Pediatria · 27

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Influence of β2‐adrenoceptor polymorphisms on the response to chronic use of albuterol in asthmatic children

2008 · Verónica Giubergia, Luis Pablo Gravina, et al. · Pediatric Pulmonology · 24

Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported

2021 · Victoria Huckstadt, Josefina Chinton, et al. · American Journal of Medical Genetics Part A · 17

Population pharmacokinetics of amikacin in patients with pediatric cystic fibrosis

2019 · Paulo Caceres Guido, Mariel Perez, et al. · Pediatric Pulmonology · 17

Mannose-binding lectin gene as a modifier of the cystic fibrosis phenotype in Argentinean pediatric patients

2014 · Luis Pablo Gravina, Carolina Crespo, et al. · Journal of Cystic Fibrosis · 16

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Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele

2020 · Carolina Crespo, Hernán Eiroa, et al. · Molecular Genetics and Metabolism Reports · 13

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Influence of β2-adrenergic receptor polymorphisms on asthma exacerbation in children with severe asthma regularly receiving salmeterol

2013 · Verónica Giubergia, Luis Gravina, et al. · Annals of Allergy Asthma & Immunology · 12

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High specificity of head circumference to recognize N540K mutation in hypochondroplasia

2005 · Virginia Fano, Luis Pablo Gravina, et al. · Annals of Human Biology · 11

Natural History of Type 1 Spinal Muscular Atrophy in a Series of Argentinian Children

2020 · V. Aguerre, F. De Castro, et al. · Journal of Neuromuscular Diseases · 10

β2-Adrenergic polymorphisms and total serum IgE levels in children with asthma from Argentina

2009 · Verónica Giubergia, Marta Zelazko, et al. · Annals of Allergy Asthma & Immunology · 7

Challenges in genetic diagnosis, co‐occurrence of 22q11.2 deletion syndrome and Noonan syndrome

2022 · Josefina Chinton, Victoria Huckstadt, et al. · American Journal of Medical Genetics Part A · 6

A novel deep intronic variant in the DMD gene causes Duchenne muscular dystrophy by pseudoexon activation encoding a nonsense codon

2024 · María Eugenia Foncuberta, Soledad Monges, et al. · Gene · 2

Diagnóstico molecular de atrofia muscular espinal:Experiencia en un hospital pediátrico de Argentina

2026 · Michelle Bursztyn, Hilda V Aráoz, et al. · Archivos Argentinos de Pediatria

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Expanding the Clinical and Genetic Landscape of UQCRC2-related Mitochondrial Complex III Deficiency: A Case Report and Literature Review

2026 · Verónica Bindi, Carolina Crespo, et al. · Current Pediatric Reviews

“Cytopenias and proteinuria as key diagnostic features of Imerslund-Gräsbeck Syndrome: a case series of four Argentine patients”

2025 · Verónica Bindi, Crespo Carolina, et al.

WS21.04 Molecular characterisation of the CFTR gene in the Argentinian population: impact of local variants in the sensitivity of genetic testing

2022 · C. Crespo, H. Giugno, et al. · Journal of Cystic Fibrosis

Cystic Fibrosis: Clinical and Diagnosis Approach

2020 · Claudio Castaños, Lilien Chertkoff, et al. · Springer eBooks

The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency

2020 · Carmen R. Vargas, Marion Deon, et al. · Jornal Brasileiro de Patologia e Medicina Laboratorial

P010 In the era of CFTR modulators, does newborn screening detect cystic fibrosis patients with residual function mutations?

2019 · C. Crespo, H. Giugno, et al. · Journal of Cystic Fibrosis

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Duchenne Muscular Dystrophy - Genetics

2018 · M. Foncuberta, F. Lubieniecki, et al. · Neuromuscular Disorders

Works count: 29

Citation count: 326

H-index: 12

I10-index: 14