Mauro Santibanez‐Koref

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

Joshua D. Milner, Tiphanie P. Vogel, Lisa R. Forbes et al. · Blood · 2014 · 556 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Universal heteroplasmy of human mitochondrial DNA

Brendan Payne, Ian Wilson, Patrick Yu‐Wai‐Man et al. · Human Molecular Genetics · 2012 · 441 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

Rachel Dickinson, Helen Griffin, Venetia Bigley et al. · Blood · 2011 · 431 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Rachel Soemedi, Ian Wilson, Jamie Bentham et al. · The American Journal of Human Genetics · 2012 · 338 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17