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Nature Medicine|August 19, 2020
Articular cartilage regeneration by activated skeletal stem cellsMatthew P Murphy, Lauren S Koepke, Michael T Lopez, et al.Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.The Journal of Allergy and Clinical Immunology|June 5, 2023
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studiesBrigette Boast, Shubham Goel, Luis I González-Granado, et al.American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.Neurology. Genetics|June 14, 2019
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypesChong Sun, Jie Song, Yanjun Jiang, et al.American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.Archives of Public Health = Archives Belges De Sante Publique|September 11, 2012
Dietary exposure assessments for children in europe (the EXPOCHI project): rationale, methods and designInge Huybrechts, Isabelle Sioen, Polly E Boon, et al.Science Advances|February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variationDavid B Beck, Mohammed A Basar, Anthony J Asmar, et al.Food Additives & Contaminants. Part A, Chemistry, Analysis, Control, Exposure & Risk Assessment|November 26, 2010
Harmonisation of food categorisation systems for dietary exposure assessments among European childrenM De Neve, I Sioen, P E Boon, et al.Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.Pageof 27