Christopher T. Sullivan

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen et al. · Nature Genetics · 2012 · 306 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Crystal structures of DNA/RNA repair enzymes AlkB and ABH2 bound to dsDNA

Cai‐Guang Yang, Chengqi Yi, E.M. Duguid et al. · Nature · 2008 · 262 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

Samin A. Sajan, Liliana Fernández, Sahar Esmaeeli Nieh et al. · PLoS Genetics · 2013 · 110 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Deletion 16p13.11 uncovers <i>NDE1</i> mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

Alex R. Paciorkowski, Kim M. Keppler‐Noreuil, Luther K. Robinson et al. · American Journal of Medical Genetics Part A · 2013 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17