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Science Translational Medicine|May 6, 2016
Development of a bile acid-based newborn screen for Niemann-Pick disease type CXuntian Jiang, Rohini Sidhu, Laurel Mydock-McGrane, et al.
European Journal of Immunology|May 16, 2012
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type CAnneliese O Speak, Nicholas Platt, Mariolina Salio, et al.
Nature Communications|August 17, 2018
Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular diseaseChen Yao, George Chen, Ci Song, et al.
Nature Communications|September 20, 2018
Author Correction: Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular diseaseChen Yao, George Chen, Ci Song, et al.
Gastroenterology|July 15, 2023
Genome-Wide Association Study Identifies 4 Novel Risk Loci for Small Intestinal Neuroendocrine Tumors Including a Missense Mutation in LGR5Anil K Giri, Mervi Aavikko, Linnea Wartiovaara, et al.
Nature Genetics|February 24, 2023
Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseasesNiek de Klein, Ellen A Tsai, Martijn Vochteloo, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 14, 2021
The Parkinson's disease-associated gene ITPKB protects against α-synuclein aggregation by regulating ER-to-mitochondria calcium releaseDaniel J Apicco, Evgeny Shlevkov, Catherine L Nezich, et al.
Nature Communications|March 3, 2025
Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbiditiesDouglas P Loesch, Manik Garg, Dorota Matelska, et al.
BMJ Open|October 5, 2022
Recontacting biobank participants to collect lifestyle, behavioural and cognitive information via online questionnaires: lessons from a pilot study within FinnGenRodosthenis S Rodosthenous, Mari E K Niemi, Lila Kallio, et al.
Plos Genetics|January 8, 2021
Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptomeDenis A Baird, Jimmy Z Liu, Jie Zheng, et al.
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