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Alberto Fernández‐Jaén

Hospital Universitario Quirónsalud Madrid

ORCID: 0000-0003-3306-9832

222 papers and 2k citations.

PubIndex Score24Top 76% · seniorHow it's scored

222Publications

2kTotal Citations

First publication: 1997First senior author: 2006

Top publicationsby citations

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Marialetizia Motta, Marco Tartaglia, Katelyn Payne et al.|The American Journal of Human Genetics|2020

Cited by 95

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Brett V. Johnson, Saadet Mercimek‐Andrews, Raman Kumar et al.|Biological Psychiatry|2019

Cited by 71

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Li Xin Zhang, Yuri A. Zárate, Gabrielle Lemire et al.|Genetics in Medicine|2020

Cited by 62

The variability of <scp><i>SMARCA4</i></scp>‐related <scp>Coffin–Siris</scp> syndrome: Do nonsense candidate variants add to milder phenotypes?

Dong Li, Samantha A. Schrier Vergano, Rebecca C. Ahrens‐Nicklas et al.|American Journal of Medical Genetics Part A|2020

Cited by 23

A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy

Cristina Rodríguez, Alberto Fernández‐Jaén|Journal of Neurochemistry|2019

Cited by 21

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