Assessing non-Mendelian inheritance in inherited axonopathies

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina Mersiyanova, M. Muglia et al. · Nature Genetics · 2004 · 1.6K citations · Full text

Life Sciences, Genetics, Neurology +11

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Elizabeth T. Cirulli, Brittany N. Lasseigne, Slavé Petrovski et al. · Science · 2015 · 981 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Weizhen Ji, Jia Nee Foo, Brian J. O’Roak et al. · Nature Genetics · 2008 · 811 citations

Medicine, Genetics, Molecular Genetics +15

Exome sequencing and the genetic basis of complex traits

Adam Kieżun, Kiran Garimella, Ron Do et al. · Nature Genetics · 2012 · 391 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin et al. · Cell Reports · 2015 · 247 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17