Publications

Export 7 results:
Author Title [ Year(Desc)]
Filters: Author is Bamshad, Michael J and Keyword is High-Throughput Nucleotide Sequencing  [Clear All Filters]
2012
Bamshad, M. J. et al. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A 158A, 1523-5 (2012).
2013
Guo, D. - C. et al. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet 93, 398-404 (2013).
2015
Chong, J. X. et al. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet 96, 841-9 (2015).
Rehman, A. U. et al. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet 23, 1207-15 (2015).
Chong, J. X. et al. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet 96, 462-73 (2015).
2017
Kim, D. Seung et al. Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 174, 381-389 (2017).
2020
Mirzaa, G. M. et al. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med 22, 538-546 (2020).