Fernando Santos

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

Luís Fernández, Julián Nevado, Fernando Santos et al. · BMC Medical Genetics · 2009 · 68 citations · Full text

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Beatriz Paumard‐Hernández, Julia Berges‐Soria, Eva Barroso et al. · European Journal of Human Genetics · 2014 · 64 citations · Full text

Developmental Anomaly, Genetic Disorder, Genetics +9

Customized high resolution CGH‐array for clinical diagnosis reveals additional genomic imbalances in previous well‐defined pathological samples

Elena Vallespín, María Palomares‐Bralo, M. A. Mori et al. · American Journal of Medical Genetics Part A · 2013 · 36 citations

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio, Pablo Alarcón, Pedro Arias et al. · European Journal of Human Genetics · 2019 · 30 citations · Full text

New Patients, Mendelian Disorder, Genetic Disorder +9

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

Fe Amalia García‐Santiago, Víctor Martínez‐Glez, Fernando Santos et al. · American Journal of Medical Genetics Part A · 2015 · 26 citations

Molecular Characterization, Duplication 8P, Mendelian Disorder +14