Karin V. Fuentes Fajardo

Accurate whole human genome sequencing using reversible terminator chemistry

David Bentley, Shankar Balasubramanian, Harold Swerdlow et al. · Nature · 2008 · 3.8K citations · Full text

Life Sciences, Biology, Genetics +11

Accurate and comprehensive sequencing of personal genomes

Subramanian S. Ajay, Stephen C.J. Parker, Hatice Özel Abaan et al. · Genome Research · 2011 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Detecting false-positive signals in exome sequencing

Karin V. Fuentes Fajardo, David R. Adams, Christopher E. Mason et al. · Human Mutation · 2012 · 164 citations

Life Sciences, Genetics, Molecular Genetics +17

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

Hongjie Yuan, Kasper B. Hansen, Jing Zhang et al. · Nature Communications · 2014 · 143 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Frequency and Complexity of De Novo Structural Mutation in Autism

William M. Brandler, Danny Antaki, Madhusudan Gujral et al. · The American Journal of Human Genetics · 2016 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11