Area of research
Molecular Biology · Physiology
Research interest
Research focused on Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and Coronavirus disease 2019 (COVID-19), with related work in Pneumonia, Immunology, TLR7. Notable publications include 'X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19', 'Human genetic and immunological determinants of critical COVID-19 pneumonia', and 'Pharmacological Inhibition of Poly(ADP-Ribose) Polymerases Improves Fitness and Mitochondrial Function in Skeletal Muscle'.
The seven enigmas of SARS-CoV-2: From the past to the future
OAS1 and OAS3 genetic variants enhance inflammatory responses to SARS-CoV-2
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
Additional file 2 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Human genetic and immunological determinants of critical COVID-19 pneumonia
Accelerated biological aging in COVID-19 patients
Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
Studying severe long COVID to understand post-infectious disorders beyond COVID-19
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs
Novel genes and sex differences in COVID-19 severity
Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination
Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis
Low Lymphocytes and IFN-Neutralizing Autoantibodies as Biomarkers of COVID-19 Mortality
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain
A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
DLG4-related synaptopathy: a new rare brain disorder
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Harnessing Type I IFN Immunity Against SARS-CoV-2 with Early Administration of IFN-β
From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications