Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann–Pick disease type B

Morbidity and mortality in type B Niemann–Pick disease

(2013) Margaret M. McGovern et al.   GENETICS IN MEDICINE

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges

(2012) R.J. Desnick et al.   Annual Review of Genomics and Human Genetics

Rapid coastal spread of First Americans: Novel insights from South America's Southern Cone mitochondrial genomes

(2012) M. Bodner et al.   GENOME RESEARCH

Reconstructing Native American population history

(2012) David Reich et al.   NATURE

An Alternative Model for the Early Peopling of Southern South America Revealed by Analyses of Three Mitochondrial DNA Haplogroups

(2012) Michelle de Saint Pierre et al.   PLoS One

Arrival of Paleo-Indians to the Southern Cone of South America: New Clues from Mitogenomes

(2012) Michelle de Saint Pierre et al.   PLoS One

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

(2010) Heng Li et al.   BIOINFORMATICS

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(2010) Jonathan Desnick et al.   MOLECULAR MEDICINE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Treating lysosomal storage disorders: Current practice and future prospects

(2008) Frances M. Platt et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

The unexpected role of acid sphingomyelinase in cell death and the pathophysiology of common diseases

(2008) Eric L. Smith et al.   FASEB JOURNAL

Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models

(2008) Iwan Jones et al.   MOLECULAR GENETICS AND METABOLISM

A model of the acid sphingomyelinase phosphoesterase domain based on its remote structural homolog purple acid phosphatase

(2004) Marian Seto et al.   PROTEIN SCIENCE