Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Journal: Nature communications

Publication Year: 2025

Authors & Co-authors:  Groeneweg Stefan S van Geest Ferdy S FS Martín Mariano M Dias Mafalda M Frazer Jonathan J Medina-Gomez Carolina C Sterenborg Rosalie B T M RBTM Wang Hao H Dolcetta-Capuzzo Anna A de Rooij Linda J LJ

Management of adult sepsis in resource-limited settings: global expert consensus statements using a Delphi method.

Journal: Intensive care medicine

Publication Year: 

Authors & Co-authors:  Thwaites Louise L Nasa Prashant P Abbenbroek Brett B Dat Vu Quoc VQ Finfer Simon S Kwizera Arthur A Ling Lowell L Lobo Suzana M SM Sinto Robert R Aditianingsih Dita D

Cigarette smoking, nicotine dependence, and motivation to quit smoking in South African male psychiatric inpatients.

Journal: BMC psychiatry

Publication Year: 2017

Authors & Co-authors:  Du Plooy Jean-Louis JL Macharia Muiruri M Verster Chris C

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Journal: The lancet. Diabetes & endocrinology

Publication Year: 2020

Authors & Co-authors:  Groeneweg Stefan S van Geest Ferdy S FS Abacı Ayhan A Alcantud Alberto A Ambegaonkar Gautem P GP Armour Christine M CM Bakhtiani Priyanka P Barca Diana D Bertini Enrico S ES van Beynum Ingrid M IM

Heterogeneities in Cognitive and Socio-Emotional Development in Children With Autism Spectrum Disorder and Severe Intellectual Disability as a Comorbidity.

Journal: Frontiers in psychiatry

Publication Year: 

Authors & Co-authors:  Bernard Paulais Marie-Anna MA Mazetto Camilla C Thiébaut Eric E Nassif Maria Clara MC Costa Coelho De Souza Maria Thereza MT Stefani Ana Paula AP Blanc Romuald R Gattegno Maria Pilar MP Aïad Fethia F Sam Nadia N

Comparative safety of mRNA COVID-19 vaccines to influenza vaccines: A pharmacovigilance analysis using WHO international database.

Journal: Journal of medical virology

Publication Year: 2022

Authors & Co-authors:  Kim Min Seo MS Jung Se Yong SY Ahn Jong Gyun JG Park Se Jin SJ Shoenfeld Yehuda Y Kronbichler Andreas A Koyanagi Ai A Dragioti Elena E Tizaoui Kalthoum K Hong Sung Hwi SH

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Journal: American journal of human genetics

Publication Year: 2020

Authors & Co-authors:  Manole Andreea A Efthymiou Stephanie S O'Connor Emer E Mendes Marisa I MI Jennings Matthew M Maroofian Reza R Davagnanam Indran I Mankad Kshitij K Lopez Maria Rodriguez MR Salpietro Vincenzo V

Using rare genetic mutations to revisit structural brain asymmetry.

Journal: Nature communications

Publication Year: 2024

Authors & Co-authors:  Kopal Kumar Shafighi Saltoun Modenato Moreau Huguet Jean-Louis Martin Saci