Publications
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Author Title [ Year] Filters: First Letter Of Title is S and Author is Bamshad, Michael J [Clear All Filters]
SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections. Eur J Hum Genet 27, 1054-1060 (2019).
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol 56, 1406-1413 (2017).
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).
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. Am J Med Genet A 173, 3098-3103 (2017).
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am J Med Genet A 170, 3165-3171 (2016).
Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet 94, 161-75 (2014).