Concepedia
Statistics
Publications
4
Citations
227
H-Index
Active since
2018
Affiliations
Universidade da Coruña(Current)
University College London
Instituto de Salud Carlos III
St Bartholomew's Hospital
Instituto de Investigación Biomédica de A Coruña
Arsonval Lamounier is an author at Universidade da Coruña specializing in genetic disorders, genetics, and human genetics.
Publications per year
2018–2022
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy
Juan Pablo Ochoa, María Sabater‐Molina, José Manuel García‐Pinilla et al. · Journal of the American College of Cardiology · 2018 · 100 citations · Full text
Life Sciences, Genetics, Molecular Genetics +10
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
Shahida Moosa, Guilherme Lopes Yamamoto, Lutz Garbes et al. · The American Journal of Human Genetics · 2019 · 65 citations · Full text
Medicine, Genetics, Molecular Genetics +10
Mutations in <i>TRIM63</i> cause an autosomal-recessive form of hypertrophic cardiomyopathy
Joel Salazar‐Mendiguchía, Juan Pablo Ochoa, Julián Palomino-Doza et al. · Heart · 2020 · 51 citations · Full text
Medicine, Genetics, Molecular Genetics +14
Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
Mario Torrado, Emilia Maneiro, Arsonval Lamounier et al. · Scientific Reports · 2022 · 11 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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