Catrina M. Loucks

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Lijia Huang, Katarzyna Szymańska, Victor L. Jensen et al. · The American Journal of Human Genetics · 2011 · 199 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +8

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Nina Bögershausen, Nassim Shahrzad, Jessica X. Chong et al. · The American Journal of Human Genetics · 2013 · 118 citations · Full text

Genetic Disorder, Medicine, Genetics +5

Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

Ranad Shaheen, Hanan E. Shamseldin, Catrina M. Loucks et al. · The American Journal of Human Genetics · 2013 · 86 citations · Full text

Ciliopathy Phenotypes, Pathology, Core Centrosomal Protein +4

Matching Two Independent Cohorts Validates<i>DPH1</i>as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

Catrina M. Loucks, Jillian S. Parboosingh, Ranad Shaheen et al. · Human Mutation · 2015 · 43 citations · Full text

Short Stature, Genetics, Genotype Data +23

Congenital Stationary Night Blindness: Mutation Update and Clinical Variability

Nidhi Lodha, Catrina M. Loucks, Chandree L. Beaulieu et al. · Advances in experimental medicine and biology · 2011 · 24 citations

Down Syndrome, Developmental Anomaly, Sleep +7