Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation

CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels

(2016) Karolina Szczepanowska et al.   EMBO JOURNAL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Connecting by breaking and repairing: mechanisms of DNA strand exchange in meiotic recombination

(2015) Christopher L. Sansam et al.   FEBS Journal

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

(2015) Esther Maor-Sagie et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure

(2015) S. Katari et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

(2015) Yardena Tenenbaum-Rakover et al.   JOURNAL OF MEDICAL GENETICS

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

(2015) Saleem Ahmed et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Significance of ligand interactions involving Hop2-Mnd1 and the RAD51 and DMC1 recombinases in homologous DNA repair and XX ovarian dysgenesis

(2015) Weixing Zhao et al.   NUCLEIC ACIDS RESEARCH

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

(2014) Michelle A. Wood-Trageser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

(2014) Marc V. Singleton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency

(2014) Liat de Vries et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

(2014) Saleh AlAsiri et al.   JOURNAL OF CLINICAL INVESTIGATION

A Role for the Mitochondrial Pyruvate Carrier as a Repressor of the Warburg Effect and Colon Cancer Cell Growth

(2014) John C. Schell et al.   MOLECULAR CELL

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

(2014) Hao Hu et al.   NATURE BIOTECHNOLOGY

Mutant Cohesin in Premature Ovarian Failure

(2014) Sandrine Caburet et al.   NEW ENGLAND JOURNAL OF MEDICINE

No Mutations in the PSMC3IP Gene Identified in a Swedish Cohort of Women with Primary Ovarian Insufficiency

(2014) A. Norling et al.   Sexual Development

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

Clinical analysis of genome next-generation sequencing data using the Omicia platform

(2013) Emily M Coonrod et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors

(2013) S. Gispert et al.   HUMAN MOLECULAR GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription

(2011) David Zangen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A probabilistic disease-gene finder for personal genomes

(2011) M. Yandell et al.   GENOME RESEARCH

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Mutations inNR5A1Associated with Ovarian Insufficiency

(2009) Diana Lourenço et al.   NEW ENGLAND JOURNAL OF MEDICINE

Primary ovarian insufficiency: a more accurate term for premature ovarian failure

(2007) Corrine K. Welt   CLINICAL ENDOCRINOLOGY