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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Väisänen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J. Rahikkala E, et al. Among authors: weiss s. Genet Med. 2019 Oct;21(10):2355-2363. doi: 10.1038/s41436-019-0503-4. Epub 2019 Apr 3. Genet Med. 2019. PMID: 30940925 Free PMC article.
Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation.
Steininger J, Rossmanith R, Geier CB, Leiss-Piller A, Thonhauser L, Weiss S, Hainfellner JA, Freilinger M, Schmidt WM, Eibl MM, Wolf HM. Steininger J, et al. Among authors: weiss s. Front Immunol. 2021 Dec 20;12:747738. doi: 10.3389/fimmu.2021.747738. eCollection 2021. Front Immunol. 2021. PMID: 34987501 Free PMC article.
Severity of Impaired Oxygenation and Conservative Oxygenation Targets in Mechanically Ventilated Children: A Post Hoc Subgroup Analysis of the Oxy-PICU Trial of Conservative Oxygenation.
Ray S, Wiegand M, Gould DW, Harrison DA, Mouncey PR, Peters MJ; Oxy-PICU Investigators of the United Kingdom Paediatric Critical Care Society Study Group. Ray S, et al. Pediatr Crit Care Med. 2025 Jan 13. doi: 10.1097/PCC.0000000000003686. Online ahead of print. Pediatr Crit Care Med. 2025. PMID: 39803991
Children's executive functioning and health behaviors across pediatric life stages and ecological contexts.
Kelly NR, Kosty D, Bodovski Y, Blackwell CK, Ganiban JM, Neiderhiser JM, Dabelea D, Gilbert-Diamond D, Aschner JL, Bastain TM, Breton CV, Bush NR, Calub CA, Camargo CA, Camerota M, Croen LA, Elliott AJ, Enlow MB, Ferrara A, Hartert T, Joseph RM, Karagas MR, Kelly RS, Lyall K, Magee KE, McEvoy CT, Merced-Nieves FM, O'Connor TG, Santarossa S, Schantz SL, Schmidt RJ, Stanford JB, Straughen JK, Stroustrup A, Talge NM, Wright RJ, Zhao Q, Leve LD; program collaborators for Environmental influences on Child Health Outcomes. Kelly NR, et al. J Behav Med. 2025 Jan 9. doi: 10.1007/s10865-024-00543-w. Online ahead of print. J Behav Med. 2025. PMID: 39786706
Demographic Correlates of Autism: How Do Associations Compare Between Diagnosis and a Quantitative Trait Measure?
Lyall K, Dickerson AS, Green AM, Frndak S, Croen LA, Ames JL, Avalos LA, Aschner JL, Bush NR, Camargo CA Jr, D'Sa V, Dager SR, Dunlop AL, Ferrara A, Ganiban JM, Gern JE, Gissandaner TD, Graff JC, Hertz-Picciotto I, Hipwell AE, Ma T, Miller M, Murphy L, Karagas MR, Kelly RS, Margolis A, Koinis-Mitchell D, McEvoy CT, Messinger D, Nguyen R, Oken E, Ozonoff S, Page GP, Schantz SL, Schmidt RJ, Shuster CL, Schweitzer JB, Sheinkopf SJ, Stanford JB, Trevino CO, Weiss ST, Volk HE, Joseph RM; program collaborators for Environmental influences on Child Health Outcomes. Lyall K, et al. Among authors: weiss st. Autism Res. 2025 Jan 8. doi: 10.1002/aur.3296. Online ahead of print. Autism Res. 2025. PMID: 39778060
5,685 results