Matthew A. Lines

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 243 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber et al. · The American Journal of Human Genetics · 2012 · 213 citations · Full text

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel et al. · The American Journal of Human Genetics · 2012 · 185 citations · Full text

Cause Floating-harbor Syndrome, Molecular Physiology, Signal Transduction +4

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Jason Vanstone, Amanda M Smith, Skye McBride et al. · European Journal of Human Genetics · 2015 · 138 citations · Full text

Molecular Neuroscience, Mitochondrial Function, Refractory Epilepsy +9

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Hussein Daoud, Stephanie M. Luco, Rui Li et al. · Canadian Medical Association Journal · 2016 · 100 citations · Full text