Published in Am J Hum Genet on March 28, 2013
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet (2014) 1.71
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet (2013) 1.46
Transfer RNA and human disease. Front Genet (2014) 1.35
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet (2013) 1.18
Mitochondria: impaired mitochondrial translation in human disease. Int J Biochem Cell Biol (2014) 1.13
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology (2014) 0.97
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet (2015) 0.97
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Biochim Biophys Acta (2013) 0.97
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. Am J Hum Genet (2015) 0.93
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet J Rare Dis (2013) 0.92
Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease. Adv Exp Med Biol (2014) 0.92
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. Front Genet (2015) 0.90
Genetics of primary ovarian insufficiency: new developments and opportunities. Hum Reprod Update (2015) 0.89
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency. BMC Med Genet (2014) 0.89
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. BMC Med Genet (2013) 0.86
FASTKD2 is associated with memory and hippocampal structure in older adults. Mol Psychiatry (2014) 0.85
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Rep (2015) 0.85
tRNA processing defects induce replication stress and Chk2-dependent disruption of piRNA transcription. EMBO J (2015) 0.83
Loss of CLPP alleviates mitochondrial cardiomyopathy without affecting the mammalian UPRmt. EMBO Rep (2016) 0.80
A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing. Hum Reprod (2016) 0.80
New insights into the genetic basis of infertility. Appl Clin Genet (2014) 0.80
Next-generation sequencing for mitochondrial disorders. Br J Pharmacol (2014) 0.80
CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels. EMBO J (2016) 0.79
A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function. Nucleic Acids Res (2016) 0.79
CSB-PGBD3 Mutations Cause Premature Ovarian Failure. PLoS Genet (2015) 0.79
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. J Clin Res Pediatr Endocrinol (2016) 0.79
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Single nucleotide polymorphisms in premature ovarian failure-associated genes in a Chinese Hui population. Mol Med Rep (2015) 0.78
Molecular insights into the aetiology of female reproductive ageing. Nat Rev Endocrinol (2015) 0.78
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. J Hum Genet (2015) 0.78
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. Methods (2016) 0.78
The crystal structure of human GlnRS provides basis for the development of neurological disorders. Nucleic Acids Res (2016) 0.77
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases. BMC Genomics (2014) 0.76
Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype. Sci Rep (2015) 0.76
AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages. Cell Death Dis (2015) 0.76
Unresolved questions regarding human hereditary deafness. Oral Dis (2016) 0.76
Pioneering geneticist Mary-Claire King receives the 2014 Lasker~Koshland Special Achievement Award in Medical Science. J Clin Invest (2014) 0.75
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. J Transl Med (2017) 0.75
Mitochondrial disease and endocrine dysfunction. Nat Rev Endocrinol (2016) 0.75
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab (2015) 0.75
Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2. Sci Rep (2016) 0.75
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. Hum Mutat (2015) 0.75
Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center. Eur J Pediatr (2014) 0.75
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Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76
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Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med (2009) 1.88
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLoS Biol (2012) 1.80
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Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet (2004) 1.72
Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness. Cell (2012) 1.56
Structural dynamics of the aminoacylation and proofreading functional cycle of bacterial leucyl-tRNA synthetase. Nat Struct Mol Biol (2012) 1.51
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet (1998) 1.50
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet (2012) 1.45
NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet (2007) 1.37
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet (2013) 1.37
Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol Hum Reprod (2002) 1.31
Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am J Hum Genet (2008) 1.20
The role of mtDNA mutations in the pathogenesis of age-related hearing loss in mice carrying a mutator DNA polymerase gamma. Neurobiol Aging (2007) 1.19
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet (2012) 1.16
Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet (2006) 1.13
Expression and characterization of the human mitochondrial leucyl-tRNA synthetase. Biochim Biophys Acta (2000) 1.03
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Am J Hum Genet (2011) 0.98
Discriminative modelling of context-specific amino acid substitution probabilities. Bioinformatics (2012) 0.98
Involvement of BCL2 family members in the regulation of human oocyte and early embryo survival and death: gene expression and beyond. Reproduction (2011) 0.95
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Genetic heterogeneity in human disease. Cell (2010) 10.67
Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry (2007) 7.00
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 5.60
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA (2006) 5.51
Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet (2010) 4.95
Recognition of antimicrobial peptides by a bacterial sensor kinase. Cell (2005) 4.78
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A (2011) 3.99
E2-BRCA1 RING interactions dictate synthesis of mono- or specific polyubiquitin chain linkages. Nat Struct Mol Biol (2007) 3.72
The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans. Cell (2010) 3.64
Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections. Cell (2012) 3.54
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature (2011) 3.51
Ten genes for inherited breast cancer. Cancer Cell (2007) 3.45
UBCH7 reactivity profile reveals parkin and HHARI to be RING/HECT hybrids. Nature (2011) 3.40
A UbcH5/ubiquitin noncovalent complex is required for processive BRCA1-directed ubiquitination. Mol Cell (2006) 3.30
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell (2013) 3.26
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res (2013) 3.25
Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05
Quality of life after total laparoscopic hysterectomy versus total abdominal hysterectomy for stage I endometrial cancer (LACE): a randomised trial. Lancet Oncol (2010) 2.89
Medicine. The future of psychiatric research: genomes and neural circuits. Science (2010) 2.79
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
New ISSCR guidelines underscore major principles for responsible translational stem cell research. Cell Stem Cell (2008) 2.61
DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A (2002) 2.58
Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. JAMA (2007) 2.51
Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood. Hum Mol Genet (2011) 2.48
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res (2011) 2.27
Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A (2002) 2.17
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A (2011) 2.11
Structure of an E3:E2~Ub complex reveals an allosteric mechanism shared among RING/U-box ligases. Mol Cell (2012) 2.07
Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4. Nat Genet (2002) 2.00
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99
Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2006) 1.99
Activation of the bacterial sensor kinase PhoQ by acidic pH. Mol Cell (2007) 1.98
Mass spectrometric and mutational analyses reveal Lys-6-linked polyubiquitin chains catalyzed by BRCA1-BARD1 ubiquitin ligase. J Biol Chem (2003) 1.97
BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci U S A (2002) 1.89
Tumor-specific p53 sequences in blood and peritoneal fluid of women with epithelial ovarian cancer. Am J Obstet Gynecol (2005) 1.72
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet (2009) 1.67
E2s: structurally economical and functionally replete. Biochem J (2011) 1.64
RING-type E3 ligases: master manipulators of E2 ubiquitin-conjugating enzymes and ubiquitination. Biochim Biophys Acta (2013) 1.64
Metal bridges between the PhoQ sensor domain and the membrane regulate transmembrane signaling. J Mol Biol (2005) 1.61
OTUB1 co-opts Lys48-linked ubiquitin recognition to suppress E2 enzyme function. Mol Cell (2012) 1.58
Genomic analysis of mental illness: a changing landscape. JAMA (2010) 1.56
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet (2009) 1.56
Solid-state NMR and SAXS studies provide a structural basis for the activation of alphaB-crystallin oligomers. Nat Struct Mol Biol (2010) 1.53
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet (2010) 1.51
Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism. Hepatology (2002) 1.49
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet (2011) 1.48
Ubiquitin in motion: structural studies of the ubiquitin-conjugating enzyme∼ubiquitin conjugate. Biochemistry (2011) 1.46
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. Am J Med Genet A (2010) 1.43
Estrogen receptor alpha is a putative substrate for the BRCA1 ubiquitin ligase. Proc Natl Acad Sci U S A (2007) 1.40