Laura Planas‐Serra

Medicine · Health Sciences

21h-index7.3kcitations40works3.42yr avg
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Research Topics

SARS-CoV-2 and COVID-19 Research(12), COVID-19 Clinical Research Studies(8), Long-Term Effects of COVID-19(6), interferon and immune responses(6), Diabetes and associated disorders(5)

Publications30 total

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
The American Journal of Human Genetics·2025Open Access
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia
Journal of Clinical Immunology·2024· 10 citedOpen Access
Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia
Journal of Clinical Investigation·2024· 2 citedOpen Access
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine·2024· 1 citedOpen Access
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome Medicine·2023· 8 citedOpen Access
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
Journal of Clinical Investigation·2023· 13 citedOpen Access
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine·2023· 76 citedOpen Access
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
Journal of Clinical Investigation·2023· 32 citedOpen Access
Additional file 2 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Figshare·2023Open Access
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
2022· 10 citedOpen Access
Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy
Acta Neuropathologica·2022· 9 cited
Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study
EClinicalMedicine·2022· 27 citedOpen Access
Accelerated biological aging in COVID-19 patients
Nature Communications·2022· 214 citedOpen Access
Biallelic variants in <i>SLC35B2</i> cause a novel chondrodysplasia with hypomyelinating leukodystrophy
Brain·2022· 18 citedOpen Access
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology·2022· 22 citedOpen Access
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Science Immunology·2021· 410 citedOpen Access
SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
The Journal of Experimental Medicine·2021· 142 citedOpen Access
Neutralizing Autoantibodies to Type I IFNs in &gt;10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain
Journal of Clinical Immunology·2021· 132 citedOpen Access
Epigenome-wide association study of COVID-19 severity with respiratory failure
EBioMedicine·2021· 147 citedOpen Access
Neutralizing autoantibodies to type I IFNs in &amp;gt;10% of patients with severe COVID-19 pneumonia hospitalized in Madrid, Spain
2021· 1 citedOpen Access
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Frequent Co-authors

Aurora Pujol(28), Agatha Schlüter(21), Montserrat Ruíz(12), Agustí Rodríguez‐Palmero(11), Pere Soler‐Palacín(10), Roger Colobrán(10), Carlos Casasnovas(10), Jesús Troya(9), Edgard Verdura(9), Stéphane Fourcade(9), Paul Bastard(8), Jacques G. Rivière(7), Sergio Aguilera(7), Valentina Vélez-Santamaría(7), Marta Gut(7), Peng Zhang(6), Mohammad Shahrooei(6), Nevin Hatipoğlu(6), Tayfun Özçelık(6), Giuseppe Novelli(6)