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JAMA Network Open|May 27, 2025
Organ Donation for Research Biobanking Among Historically Marginalized Racial and Ethnic Groups: A Systematic ReviewCamilo Toro, Oseiwe B Eromosele, David B Flynn, et al.Human Mutation|July 5, 2017
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardationStephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, et al.Plos Genetics|February 28, 2017
Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13Yihan Zhang, Haigen Huang, Gexin Zhao, et al.American Journal of Medical Genetics. Part A|June 5, 2021
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathySarah Debs, Carlos R Ferreira, Catherine Groden, et al.Plos Genetics|February 4, 2017
ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13Yihan Zhang, Haigen Huang, Gexin Zhao, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2014
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceLauren Lawrence, Murat Sincan, Thomas Markello, et al.Journal of Neurosurgical Anesthesiology|December 30, 2021
Association of Brain Injury Biomarkers and Circulatory Shock Following Moderate-Severe Traumatic Brain Injury: A TRACK-TBI StudyCamilo Toro, Sonia Jain, Shelly Sun, et al.Journal of Inherited Metabolic Disease|May 1, 2022
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases ProgramCarolina Montano, Thomas Cassini, Shira G Ziegler, et al.American Journal of Medical Genetics. Part A|October 21, 2017
Defective ciliogenesis in INPP5E-related Joubert syndromeIsabel Hardee, Ariane Soldatos, Mariska Davids, et al.American Journal of Medical Genetics. Part A|November 15, 2017
Cover Image, Volume 173A, Number 12, December 2017Isabel Hardee, Ariane Soldatos, Mariska Davids, et al.Pageof 16