Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

(2013) Emma M. Jenkinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy

(2013) J. López-Erauskin et al.   HUMAN MOLECULAR GENETICS

Targeted exome sequencing of suspected mitochondrial disorders

(2013) D. S. Lieber et al.   NEUROLOGY

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

(2013) Hugh J McMillan et al.   Orphanet Journal of Rare Diseases

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Perrault syndrome: further evidence for genetic heterogeneity

(2011) Emma M. Jenkinson et al.   JOURNAL OF NEUROLOGY

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

(2011) S. B. Pierce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

HSD17B4 overexpression, an independent biomarker of poor patient outcome in prostate cancer

(2008) Krishan K. Rasiah et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY