Published in Hum Mol Genet on February 09, 2012
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A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient. Sleep (2013) 0.83
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EIF3G is associated with narcolepsy across ethnicities. Eur J Hum Genet (2015) 0.75
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Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature (2004) 5.95
Narcolepsy with cataplexy. Lancet (2007) 4.81
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet (2007) 4.54
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet (2011) 4.52
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet (2006) 4.49
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Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Nature (2011) 4.10
Narcolepsy onset is seasonal and increased following the 2009 H1N1 pandemic in China. Ann Neurol (2011) 4.09
Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment. Nat Genet (2004) 3.91
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet (2012) 3.80
Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat Med (2011) 3.66
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet (2004) 3.42
Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome. Proc Natl Acad Sci U S A (2007) 3.35
Systematic analysis of transcribed loci in ENCODE regions using RACE sequencing reveals extensive transcription in the human genome. Genome Biol (2008) 3.34
Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet (2009) 3.33
CCL18 from tumor-associated macrophages promotes breast cancer metastasis via PITPNM3. Cancer Cell (2011) 3.31
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet (2005) 3.27
A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet (2011) 3.14
Post-H1N1 narcolepsy-cataplexy. Sleep (2010) 3.10
Elevated anti-streptococcal antibodies in patients with recent narcolepsy onset. Sleep (2009) 3.06
Kleine-Levin syndrome: a systematic study of 108 patients. Ann Neurol (2008) 3.03
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (2012) 2.98
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Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain (2012) 2.87
HPA axis reactivity: a mechanism underlying the associations among 5-HTTLPR, stress, and depression. Biol Psychiatry (2007) 2.87
Extensive variation in chromatin states across humans. Science (2013) 2.83
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet (2013) 2.83
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals. Genome Res (2013) 2.77
Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Hum Genet (2003) 2.71
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem (2006) 2.68
Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation (2013) 2.66
Enhanced sarcoplasmic reticulum Ca2+ leak and increased Na+-Ca2+ exchanger function underlie delayed afterdepolarizations in patients with chronic atrial fibrillation. Circulation (2012) 2.58
Microvesicles secreted by macrophages shuttle invasion-potentiating microRNAs into breast cancer cells. Mol Cancer (2011) 2.56
Retracted CD4+ T cell autoimmunity to hypocretin/orexin and cross-reactivity to a 2009 H1N1 influenza A epitope in narcolepsy. Sci Transl Med (2013) 2.51
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet (2011) 2.45
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A (2009) 2.36
Nocturnal eating: sleep-related eating disorder or night eating syndrome? A videopolysomnographic study. Sleep (2006) 2.35
Correlates of sleep-onset REM periods during the Multiple Sleep Latency Test in community adults. Brain (2006) 2.35
Characterization of sleep in zebrafish and insomnia in hypocretin receptor mutants. PLoS Biol (2007) 2.34
Cell type-specific gene expression of midbrain dopaminergic neurons reveals molecules involved in their vulnerability and protection. Hum Mol Genet (2005) 2.28
The role of hypocretins (orexins) in sleep regulation and narcolepsy. Annu Rev Neurosci (2002) 2.28
Genetics of sleep and sleep disorders. Cell (2011) 2.26
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet (2010) 2.26
New approaches to the study of periodic leg movements during sleep in restless legs syndrome. Sleep (2006) 2.24