Ariana Kariminejad

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Carol-Anne Martin, Ilyas Ahmad, Anna Klingseisen et al. · Nature Genetics · 2014 · 183 citations

Medicine, Genetics, Molecular Genetics +16

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek, Juliane Müller, Marina Dusl et al. · The American Journal of Human Genetics · 2011 · 173 citations · Full text

Medicine, Genetics, Neuroscience +10

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Rocío Acuña‐Hidalgo, Denny Schanze, Ariana Kariminejad et al. · The American Journal of Human Genetics · 2014 · 154 citations · Full text

Life Sciences, Biochemistry, Genetics +13

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

Fransiska Malfait, Ariana Kariminejad, Tim Van Damme et al. · The American Journal of Human Genetics · 2013 · 140 citations · Full text

Medicine, Genetics, Molecular Genetics +14