Publications

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Author Title [ Year(Desc)]
Filters: Keyword is Genetic Association Studies and Author is Bamshad, Michael  [Clear All Filters]
2016
Weinstein, M. M. et al. Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. Am J Med Genet A 170, 3298-3302 (2016).
Toriello, H. V., Colley, C. & Bamshad, M. Update on the Toriello-Carey syndrome. Am J Med Genet A 170, 2551-8 (2016).
2018
Zhang, W. et al. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat 39, 152-166 (2018).
Qiao, D. et al. Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Hum Mol Genet 27, 3801-3812 (2018).