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Journal of Inherited Metabolic Disease|March 18, 2017
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.Nature Reviews. Drug Discovery|November 4, 2024
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmapAnneliene H Jonker, Elena-Alexandra Tataru, Holm Graessner, et al.Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.Journal of Genetic Counseling|April 10, 2019
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencingDiane B Zastrow, Jennefer N Kohler, Devon Bonner, et al.American Journal of Medical Genetics. Part A|January 18, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencingKristen Wigby, Monia Hammer, Mari Tokita, et al.Journal of Inherited Metabolic Disease|March 12, 2020
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh diseaseMarisa W Friederich, Abdallah F Elias, Alice Kuster, et al.Human Genetics|March 7, 2024
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomaliesDaniel Brooks, Elizabeth Burke, Sukyeong Lee, et al.Blood|November 8, 2012
Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomesRebecca A Marsh, Kanchan Rao, Prakash Satwani, et al.NPJ Genomic Medicine|April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencingChristina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.Human Mutation|January 13, 2022
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymesJennifer H Yang, Marisa W Friederich, Katarzyna A Ellsworth, et al.Pageof 13