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1.	Bastard, P, et al. (author) Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children 2024 In: The Journal of experimental medicine. - 1540-9538. ; 221:2 Journal article (peer-reviewed)
2.	Rodriguez-Palmero, Agusti, et al. (author) DLG4-related synaptopathy : a new rare brain disorder 2021 In: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 23:5, s. 888-899 Journal article (peer-reviewed)abstract PurposePostsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.MethodsThe clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing.ResultsThe clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit–hyperactivity disorder, all of which point to a brain disorder. Marfanoid habitus, which was previously suggested to be a characteristic feature of DLG4-related phenotypes, was found in only nine individuals and despite some overlapping features, a distinct facial dysmorphism could not be established. Of the 45 different DLG4 variants, 39 were predicted to lead to loss of protein function and the majority occurred de novo (four with unknown origin). The six missense variants identified were suggested to lead to structural or functional changes by protein modeling studies.ConclusionThe present study shows that clinical manifestations associated with DLG4 overlap with those found in other neurodevelopmental disorders of synaptic dysfunction; thus, we designate this group of disorders as DLG4-related synaptopathy.
3.	Ahmad, N, et al. (author) Treatment correlates of successful outcomes in pulmonary multidrug-resistant tuberculosis: an individual patient data meta-analysis 2018 In: Lancet (London, England). - 1474-547X. ; 392:10150, s. 821-834 Journal article (peer-reviewed)

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Type of publication: journal article (3)

Type of content: peer-reviewed (3)

Author/Editor: Tanaka, J. (1); Lange, C. (1); Okada, S. (1); Zhang, Q. (1); Ahmad, N. (1); Casanova, JL (1); show more...; Lee, M (1); Abolhassani, H (1); Bonnet, M (1); Hammarstrom, L (1); Bang, D (1); Benedetti, A (1); Lan, ZY (1); Li, PZ (1); Menzies, D (1); Migliori, GB (1); Ndjeka, N (1); Singla, R (1); Khan, FA (1); Gu, S. (1); Pan-Hammarstrom, Q (1); Boisson, B (1); Keles, S (1); Bousfiha, AA (1); Condino-Neto, A (1); Bastard, P (1); Marr, N (1); Belot, A (1); Béziat, V (1); Zhang, SY (1); Zignol, M (1); Nahid, P (1); de Vries, G (1); Hughes, J (1); Hayakawa, S (1); Brodin, P (1); Guglielmetti, L (1); Tabarsi, P (1); Ahuja, SD (1); Akkerman, OW (1); Alffenaar, JWC (1); Anderson, LF (1); Baghaei, P (1); Barry, PM (1); Bastos, ML (1); Behera, D (1); Bisson, GP (1); Boeree, MJ (1); Brode, SK (1); Brust, JCM (1); show less...

University: Karolinska Institutet (3); Uppsala University (1)

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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