Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Edition of TFAM gene by CRISPR/Cas9 technology in bovine model

(2019) Vanessa Cristina de Oliveira et al.   PLoS One

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

(2019) Marjo S. van der Knaap et al.   NEUROLOGY

The global prevalence of primary ovarian insufficiency and early menopause: a meta-analysis

(2019) S. Golezar et al.   CLIMACTERIC

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

(2019) María Domínguez-Ruiz et al.   Journal of Translational Medicine

Two novel mutations of PEX6 in one Chinese Zellweger spectrum disorder and their clinical characteristics

(2019) Hui-Ling Yu et al.   Annals of Translational Medicine

Molecular diagnosis of coenzyme Q10 deficiency: an update

(2018) Delia Yubero et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

(2017) Iliana A. Chatzispyrou et al.   HUMAN MOLECULAR GENETICS

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates

(2017) Neus Roca-Ayats et al.   NEW ENGLAND JOURNAL OF MEDICINE

GGPP-Mediated Protein Geranylgeranylation in Oocyte Is Essential for the Establishment of Oocyte-Granulosa Cell Communication and Primary-Secondary Follicle Transition in Mouse Ovary

(2017) Chen Jiang et al.   PLoS Genetics

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

(2016) Gali Heimer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations ofSGO2andCLDN14collectively cause coincidental Perrault syndrome

(2016) R. Faridi et al.   CLINICAL GENETICS

Expanding the genotypic spectrum of Perrault syndrome

(2016) L.A.M. Demain et al.   CLINICAL GENETICS

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

(2016) Elena J. Tucker et al.   ENDOCRINE REVIEWS

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

(2016) Justine Lerat et al.   HUMAN MUTATION

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

(2016) Ashlee R. Stiles et al.   MOLECULAR GENETICS AND METABOLISM

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

(2016) Tom E. J. Theunissen et al.   Frontiers in Neurology

Alteration of protein prenylation promotes spermatogonial differentiation and exhausts spermatogonial stem cells in newborn mice

(2016) Fan Diao et al.   Scientific Reports

LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants: Fig. 1.

(2015) Mitchell J. Machiela et al.   BIOINFORMATICS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Protein prenylation and human diseases: a balance of protein farnesylation and geranylgeranylation

(2015) Na Xu et al.   Science China-Life Sciences

Cpipe: a shared variant detection pipeline designed for diagnostic settings

(2015) Simon P. Sadedin et al.   Genome Medicine

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

(2014) H. Morino et al.   NEUROLOGY

Late-Onset Zellweger Spectrum Disorder Caused by PEX6 Mutations Mimicking X-Linked Adrenoleukodystrophy

(2014) Christel Tran et al.   PEDIATRIC NEUROLOGY

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

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

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

(2013) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

The molecular basis of human complex I deficiency

(2011) Elena J. Tucker et al.   IUBMB LIFE

Resumption of Ovarian Function and Pregnancies in 358 Patients with Premature Ovarian Failure

(2011) Maud Bidet et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

(2011) Saskia F. Heeringa et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Spectrum ofPEX6mutations in Zellweger syndrome spectrum patients

(2009) Merel S. Ebberink et al.   HUMAN MUTATION

The unfolding clinical spectrum of POLG mutations

(2009) M J Blok et al.   JOURNAL OF MEDICAL GENETICS