|
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
|
|
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
|
|
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
|
|
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 :
|
|
Tam, Allison; Chen, Shan; Schauer, Evan et al. (2018) A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Clin Genet 94:502-511
|
|
Tam, Allison; Sliepka, Joseph M; Bellur, Sunil et al. (2018) Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1. Clin Imaging 51:160-163
|
|
Meng, Linyan; Pammi, Mohan; Saronwala, Anirudh et al. (2017) Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr 171:e173438
|
|
Posey, Jennifer E; Harel, Tamar; Liu, Pengfei et al. (2017) Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376:21-31
|
|
Bostwick, Bret L; McLean, Scott; Posey, Jennifer E et al. (2017) Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med 9:73
|
|
Eldomery, Mohammad K; Coban-Akdemir, Zeynep; Harel, Tamar et al. (2017) Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9:26
|
Showing the most recent 10 out of 127 publications
