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
|
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
|
Robak, Laurie A; Jansen, Iris E; van Rooij, Jeroen et al. (2017) Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. Brain 140:3191-3203
|
Marom, Ronit; Jain, Mahim; Burrage, Lindsay C et al. (2017) Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38:1365-1371
|
Machol, Keren; Jain, Mahim; Almannai, Mohammed et al. (2017) Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A 173:733-739
|
Showing the most recent 10 out of 127 publications