Renieri, Alessandra

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H.-H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Béziat, V., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,662

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2018) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,323

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2020) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,321

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Zhang, Q., Bastard, P., Liu, Z., Le Pen, J., Moncada-Velez, M., Chen, J., Ogishi, M., Sabli, I. K. D., Hodeib, S., Korol, C., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,229

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 640

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 462

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., et al. (2019) · Genetics in Medicine

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 193

Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome

Signorini, C., Leoncini, S., De Felice, C., Pecorelli, A., Meloni, I., Ariani, F., Mari, F., Amabile, S., Paccagnini, E., Gentile, M., et al. (2014) · Oxidative Medicine and Cellular Longevity

Genetics and Neurodevelopmental DisordersRedox biology and oxidative stress

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Human CRY1 variants associate with attention deficit/hyperactivity disorder

Onat, O. E., Kars, M. E., Gül, Ş., Bilguvar, K., Wu, Y., Özhan, A., Aydın, C., Başak, A. N., Trusso, M. A., Goracci, A., et al. (2020) · Journal of Clinical Investigation

Circadian rhythm and melatoninAttention Deficit Hyperactivity Disorder

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Alteration of serum lipid profile, SRB1 loss, and impaired Nrf2 activation in CDKL5 disorder

Pecorelli, A., Belmonte, G., Meloni, I., Cervellati, F., Gardi, C., Sticozzi, C., De Felice, C., Signorini, C., Cortelazzo, A., Leoncini, S., et al. (2015) · Free Radical Biology and Medicine

Genetics and Neurodevelopmental DisordersCholesterol and Lipid Metabolism

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Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

Doddato, G., Fabbiani, A., Fallerini, C., Bruttini, M., Hadjistilianou, T., Landi, M., Coradeschi, C., Grosso, S., Tomasini, B., Mencarelli, M. A., et al. (2021) · Frontiers in Genetics

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

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Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions

Sideropoulos, V., Van Herwegen, J., Meuleman, B., Alessandri, M., Alnemary, F. M., Rad, J. A., Lavenex, P. A. B., Bolshakov, N., Bölte, S., Buffle, P., et al. (2023) · Journal of Global Health

COVID-19 and Mental HealthChild and Adolescent Psychosocial and Emotional Development

Cited by 7