Published in Nat Genet on May 25, 2015
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet (2016) 0.80
Prdm12 specifies V1 interneurons through cross-repressive interactions with Dbx1 and Nkx6 genes in Xenopus. Development (2015) 0.80
Toward a Mechanism-Based Approach to Pain Diagnosis. J Pain (2016) 0.78
Genomic study of congenital insensitivity to pain provides new avenues for the development of analgesics. Clin Genet (2015) 0.76
An emerging role for prdm family genes in dorsoventral patterning of the vertebrate nervous system. Neural Dev (2015) 0.75
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. J Med Genet (2016) 0.75
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. PLoS Genet (2016) 0.75
Identification of molecular signatures specific for distinct cranial sensory ganglia in the developing chick. Neural Dev (2016) 0.75
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet (2015) 0.75
[Sensory and autonomic neuropathies and pain-related channelopathies]. Schmerz (2015) 0.75
Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature. J Med Case Rep (2017) 0.75
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions. Nucleic Acids Res (1988) 26.70
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84
Accounting for human polymorphisms predicted to affect protein function. Genome Res (2002) 14.10
Survey of chronic pain in Europe: prevalence, impact on daily life, and treatment. Eur J Pain (2005) 13.45
Predicting the functional effect of amino acid substitutions and indels. PLoS One (2012) 8.61
In situ hybridization: an improved whole-mount method for Xenopus embryos. Methods Cell Biol (1991) 8.31
An SCN9A channelopathy causes congenital inability to experience pain. Nature (2006) 7.01
Lost productive time and cost due to common pain conditions in the US workforce. JAMA (2003) 6.60
MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods (2014) 6.43
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet (1996) 3.35
Association of SET domain and myotubularin-related proteins modulates growth control. Nat Genet (1998) 3.32
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet (2011) 3.16
The hem of the embryonic cerebral cortex is defined by the expression of multiple Wnt genes and is compromised in Gli3-deficient mice. Development (1998) 3.07
Neurogenin1 and neurogenin2 control two distinct waves of neurogenesis in developing dorsal root ganglia. Genes Dev (1999) 2.88
The C-terminal SET domains of ALL-1 and TRITHORAX interact with the INI1 and SNR1 proteins, components of the SWI/SNF complex. Proc Natl Acad Sci U S A (1998) 2.52
The normal sural nerve in man. I. Ultrastructure and numbers of fibres and cells. Acta Neuropathol (1969) 2.51
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
Induction and specification of cranial placodes. Dev Biol (2006) 2.13
Combined small-molecule inhibition accelerates developmental timing and converts human pluripotent stem cells into nociceptors. Nat Biotechnol (2012) 2.09
Neural crest determination by co-activation of Pax3 and Zic1 genes in Xenopus ectoderm. Development (2005) 1.89
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum Mol Genet (2004) 1.86
Epigenetic mechanisms in neurological disease. Nat Med (2012) 1.74
Nociceptors: the sensors of the pain pathway. J Clin Invest (2010) 1.72
The PR domain of the Rb-binding zinc finger protein RIZ1 is a protein binding interface and is related to the SET domain functioning in chromatin-mediated gene expression. J Biol Chem (1998) 1.67
The other trinucleotide repeat: polyalanine expansion disorders. Curr Opin Genet Dev (2005) 1.62
hamlet, a binary genetic switch between single- and multiple- dendrite neuron morphology. Science (2002) 1.61
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet (2013) 1.61
Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. Hum Mol Genet (1998) 1.42
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. Proc Natl Acad Sci U S A (2009) 1.39
The Prdm family: expanding roles in stem cells and development. Development (2012) 1.37
Prdm proto-oncogene transcription factor family expression and interaction with the Notch-Hes pathway in mouse neurogenesis. PLoS One (2008) 1.28
Chronic pain: emerging evidence for the involvement of epigenetics. Neuron (2012) 1.21
Chromatin modification of Notch targets in olfactory receptor neuron diversification. Nat Neurosci (2011) 1.20
The neural crest and neural crest cells: discovery and significance for theories of embryonic organization. J Biosci (2008) 1.17
Painful and painless channelopathies. Lancet Neurol (2014) 1.12
Crosstalk among Epigenetic Pathways Regulates Neurogenesis. Front Neurosci (2012) 1.10
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. J Med Genet (2010) 1.08
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling. Brain (2010) 1.06
Essential roles of the histone methyltransferase ESET in the epigenetic control of neural progenitor cells during development. Development (2012) 1.04
The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet (2008) 1.03
Characterizing human stem cell-derived sensory neurons at the single-cell level reveals their ion channel expression and utility in pain research. Mol Ther (2014) 1.01
Transcription factor positive regulatory domain 4 (PRDM4) recruits protein arginine methyltransferase 5 (PRMT5) to mediate histone arginine methylation and control neural stem cell proliferation and differentiation. J Biol Chem (2012) 1.00
Transcriptional control of Rohon-Beard sensory neuron development at the neural plate border. Dev Dyn (2009) 0.94
The lateralisation of pain. Pain (1979) 0.93
Genes and epigenetic processes as prospective pain targets. Genome Med (2013) 0.93
SNPdryad: predicting deleterious non-synonymous human SNPs using only orthologous protein sequences. Bioinformatics (2014) 0.90
Anti-NGF painkillers back on track? Nat Rev Drug Discov (2012) 0.90
Human Mendelian pain disorders: a key to discovery and validation of novel analgesics. Clin Genet (2012) 0.88
Epigenetic control on cell fate choice in neural stem cells. Protein Cell (2012) 0.87
Epigenetic regulation of sensory neurogenesis in the dorsal root ganglion cell line ND7 by folic acid. Epigenetics (2011) 0.84
Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism. PLoS Genet (2013) 0.84
Disruption of nodal architecture in skin biopsies of patients with demyelinating neuropathies. J Peripher Nerv Syst (2013) 0.83
Prdm12 is induced by retinoic acid and exhibits anti-proliferative properties through the cell cycle modulation of P19 embryonic carcinoma cells. Cell Struct Funct (2013) 0.82
prdm12b specifies the p1 progenitor domain and reveals a role for V1 interneurons in swim movements. Dev Biol (2014) 0.81
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat Neurosci (2015) 2.47
Mutations in the deubiquitinase gene USP8 cause Cushing's disease. Nat Genet (2014) 2.10
Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat Genet (2015) 1.47
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet (2016) 1.23
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet (2015) 1.12
Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet (2011) 1.11
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet (2015) 0.93
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers. PLoS Genet (2014) 0.88
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Eur J Hum Genet (2016) 0.87
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet (2014) 0.84
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. Eur J Hum Genet (2015) 0.84
NEK1 mutations in familial amyotrophic lateral sclerosis. Brain (2016) 0.82
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS One (2015) 0.82
Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet (2015) 0.80
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev (2014) 0.80
CRIM1 haploinsufficiency causes defects in eye development in human and mouse. Hum Mol Genet (2015) 0.79
The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. Eur J Hum Genet (2014) 0.79
Genome-wide UPD screening in patients with intellectual disability. Eur J Hum Genet (2014) 0.78
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation. J Invest Dermatol (2014) 0.78
Difficulties in diagnosing Marfan syndrome using current FBN1 databases. Genet Med (2015) 0.78
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J Med Genet (2015) 0.77
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia. Eur J Hum Genet (2014) 0.77
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecol Oncol (2015) 0.77
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. PLoS One (2016) 0.76
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur J Hum Genet (2017) 0.76
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. J Med Genet (2016) 0.76
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. J Peripher Nerv Syst (2015) 0.76
Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene. Springerplus (2014) 0.75
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet (2017) 0.75
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. Eur J Hum Genet (2016) 0.75
The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report. BMC Dermatol (2016) 0.75
Moebius sequence -a multidisciplinary clinical approach. Orphanet J Rare Dis (2017) 0.75
Safety and efficacy of switching from low molecular weight heparin to dabigatran in patients undergoing elective total hip or knee replacement surgery. Thromb J (2015) 0.75
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nat Genet (2017) 0.75
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue. Hum Mol Genet (2017) 0.75
Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. Res Dev Disabil (2016) 0.75
Persistent microglial activation and synaptic loss with behavioral abnormalities in mouse offspring exposed to CASPR2-antibodies in utero. Acta Neuropathol (2017) 0.75
Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex. Mol Genet Metab (2017) 0.75
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain (2017) 0.75
Chronic non-freezing cold injury results in neuropathic pain due to a sensory neuropathy. Brain (2017) 0.75
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. Am J Med Genet A (2016) 0.75
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Am J Med Genet A (2016) 0.75
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. Am J Med Genet A (2017) 0.75
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy. Am J Med Genet B Neuropsychiatr Genet (2016) 0.75
GENE EXPRESSION IN THE LIVER REMNANT IS SIGNIFICANTLY AFFECTED BY THE SIZE OF PARTIAL HEPATECTOMY - AN EXPERIMENTAL RAT STUDY. Gene Expr (2017) 0.75