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Science (New York, N.Y.)|April 13, 2019
The NASA Twins Study: A multidimensional analysis of a year-long human spaceflightFrancine E Garrett-Bakelman, Manjula Darshi, Stefan J Green, et al.
Genome Medicine|April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersMadelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.
Genetics in Medicine Open|December 13, 2024
<i>ARID1B</i>-related disorder in 87 adults: Natural history and self-sustainabilityP J van der Sluijs, M Gösgens, A J M Dingemans, et al.
European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Neurology. Genetics|November 18, 2021
<i>PURA-</i>Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic SpectrumKatrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, et al.
BMC Public Health|September 30, 2016
Association of environmental markers with childhood type 1 diabetes mellitus revealed by a long questionnaire on early life exposures and lifestyle in a case-control studyF Balazard, S Le Fur, S Valtat, et al.
American Journal of Human Genetics|October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
American Journal of Human Genetics|November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesFadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
Scientific Data|January 30, 2026
Synthesised database of wild bee and hoverfly records in EuropeAhlam Sentil, Marija Miličić, Jordan Benrezkallah, et al.
Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
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