Carolina Baquero‐Montoya

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 88 citations · Full text

Lysosomal Storage Disease, Genetics, Immunodeficiencies +25

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Ilaria Parenti, Maria Esperanza Teresa‐Rodrigo, Jelena Pozojevic et al. · Human Genetics · 2017 · 81 citations

Chromatin, Genome Instability, Mendelian Disorder +12

Clinical utility gene card for: Cornelia de Lange syndrome

Feliciano J. Ramos, Beatriz Puisac, Carolina Baquero‐Montoya et al. · European Journal of Human Genetics · 2014 · 42 citations · Full text

Genetic Disorder, Medicine, Genetics +5

<i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond

Ilaria Parenti, Mark Mallozzi, Irina Hüning et al. · Clinical Genetics · 2021 · 42 citations · Full text

Genetics, Genetic Epidemiology, Pathology +16

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations

Mónica Ramos, Sebastián Menao, María Arnedo et al. · European Journal of Medical Genetics · 2013 · 28 citations · Full text

Mendelian Disorder, Mitochondrial Biogenesis, Biochemistry +12