Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

(2015) Giuseppina Di Fruscio et al.   Autophagy

Review and update on the molecular basis of Leber congenital amaurosis

(2015) Oscar Francisco Chacon-Camacho   World Journal of Clinical Cases

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

(2014) Guilherme L. Yamamoto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

(2014) Julie Hoover-Fong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

(2014) F. Payne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

(2014) Marco Savarese et al.   Acta Neuropathologica Communications

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa

(2010) Saloni Walia et al.   OPHTHALMOLOGY