W. J. Craigen

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Marwan Shinawi, P. Liu, Sung Hae L. Kang et al. · Journal of Medical Genetics · 2009 · 593 citations

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

David Dimmock, Q. Zhang, Carlo Dionisi‐Vici et al. · Human Mutation · 2008 · 167 citations · Full text

Deoxyguanosine Kinase, Dna Damage, Genetics +18

Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum

Sha Tang, Jing Wang, Ni‐Chung Lee et al. · Journal of Medical Genetics · 2011 · 155 citations

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

Stephanie M. Ware, Nahed O. ElHassan, Stephen G. Kahler et al. · Journal of Medical Genetics · 2009 · 95 citations

PTPN11 Mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13

M. Maheshwari, John W. Belmont, S. D. Fernbach et al. · Human Mutation · 2002 · 87 citations