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Kho, Jordan; Tian, Xiaoyu; Wong, Wing-Tak et al. (2018) Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Am J Hum Genet 103:276-287
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Nagamani, Sandesh C S; Agarwal, Umang; Tam, Allison et al. (2018) A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers. Genet Med 20:708-716
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Wiszniewski, Wojciech; Gawlinski, Pawel; Gambin, Tomasz et al. (2018) Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet 26:1121-1131
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Jain, Mahim; Tam, Allison; Shapiro, Jay R et al. (2018) Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med :
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Tam, Allison; Chen, Shan; Schauer, Evan et al. (2018) A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Clin Genet 94:502-511
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Tam, Allison; Sliepka, Joseph M; Bellur, Sunil et al. (2018) Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1. Clin Imaging 51:160-163
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Posey, Jennifer E; Martinez, Rebecca; Lankford, Jeremy E et al. (2017) Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance. Pediatr Neurol 66:53-58.e5
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O'Neil, Derek S; Stewart, Christopher J; Chu, Derrick M et al. (2017) Conditional postnatal deletion of the neonatal murine hepatic circadian gene, Npas2, alters the gut microbiome following restricted feeding. Am J Obstet Gynecol 217:218.e1-218.e15
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Luo, Xi; Rosenfeld, Jill A; Yamamoto, Shinya et al. (2017) Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet 13:e1006905
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Kennedy, Adam D; Pappan, Kirk L; Donti, Taraka R et al. (2017) Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay. Mol Genet Metab 121:83-90
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