Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

A rare form of Gaucher disease resulting from saposin C deficiency

(2018) Lulu Kang et al.   BLOOD CELLS MOLECULES AND DISEASES

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

(2018) Andrea M. Oza et al.   HUMAN MUTATION

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins

(2014) Marialetizia Motta et al.   HUMAN MOLECULAR GENETICS

The role of saposin C in Gaucher disease

(2012) Rafael J. Tamargo et al.   MOLECULAR GENETICS AND METABOLISM

Severe vestibular dysfunction and altered vestibular innervation in mice lacking prosaposin

(2012) Omar Akil et al.   NEUROSCIENCE RESEARCH

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)

(2010) P. Chérin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Clinical and genetic study of Japanese patients with type 3 Gaucher disease

(2009) Asako Tajima et al.   MOLECULAR GENETICS AND METABOLISM