Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

(2010) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy

(2010) S. Ferdinandusse et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging

(2010) Aneal Khan et al.   NEURORADIOLOGY

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS