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Filters: Keyword is Homozygote and Author is Bonnen, Penelope E [Clear All Filters]
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 ;98(2):347-57..
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 ;14:83..
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 ;158A(11):2917-24..
WDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet A. 2012 ;158A(3):622-5..