Presentation
Contact
Paula owns a Bachelor Degree in Biology from the University of Sevilla (Spain), and a Master Degree in Cellular and Molecular Neuroscience from the University of Tübingen (Germany). During her studies Paula worked on molecular brain development, as well as neural circuits and gene therapy.
Paula is joining the lab in April 2025 as a research assistant.
Resources & publications
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2019Journal (source)J Biomed InformPhenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
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2018Journal (source)Am. J. Hum. Genet.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)Nat. Genet.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and a...
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2017Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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2016Journal (source)Nat. Genet.
MMP21 is mutated in human heterotaxy and is required for normal left-right as...
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2015Journal (source)Am. J. Hum. Genet.
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ...
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2014Journal (source)Am. J. Hum. Genet.
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin...
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2013Journal (source)J. Med. Genet.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
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2009Journal (source)Nat. Genet.
Highly conserved non-coding elements on either side of SOX9 associated with P...
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2019Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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2019Journal (source)Hum. Mol. Genet.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multi...
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2019Journal (source)Neuroimage Clin
Anatomical and functional abnormalities on MRI in kabuki syndrome.
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2017Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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2017Journal (source)Am. J. Hum. Genet.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch...
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2020Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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2020Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2018Journal (source)Eur J Hum Genet
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodyso...
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2021Journal (source)Blood
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl...
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2016Journal (source)Am J Hum Genet
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spec...
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2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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2014Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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2012Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
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2011Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
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2015Journal (source)Eur J Hum Genet
Identification of a novel ARL13B variant in a Joubert syndrome-affected patie...
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2013Journal (source)Clin Genet
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i...
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2021Journal (source)Am J Hum Genet
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellec...
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2021Journal (source)J Clin Invest
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g...
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2020Journal (source)Genet Med
Phenotypic spectrum and transcriptomic profile associated with germline varia...
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2020Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2016Journal (source)Am J Hum Genet
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
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2013Journal (source)Am J Hum Genet
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
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Journal (source)Proc Natl Acad Sci U S A
Agonists of prostaglandin E2 receptors as potential first in class treatment ...
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2024Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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2024Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...