Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila.

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Rapid consolidation to a radish and protein synthesis-dependent long-term memory after single-session appetitive olfactory conditioning in Drosophila. J Neurosci (2008) 1.86

Excess protein synthesis in Drosophila fragile X mutants impairs long-term memory. Nat Neurosci (2008) 1.83

Deep sequencing the circadian and diurnal transcriptome of Drosophila brain. Genome Res (2012) 1.47

Slow oscillations in two pairs of dopaminergic neurons gate long-term memory formation in Drosophila. Nat Neurosci (2012) 1.17

Gene expression in a Drosophila model of mitochondrial disease. PLoS One (2010) 1.16

Patterns of positive selection in seven ant genomes. Mol Biol Evol (2014) 1.08

Drosophila Orb2 targets genes involved in neuronal growth, synapse formation, and protein turnover. Proc Natl Acad Sci U S A (2010) 1.08

Pleiotropic effects of Drosophila neuralized on complex behaviors and brain structure. Genetics (2008) 0.98

Fruit flies and intellectual disability. Fly (Austin) (2009) 0.92

nemy encodes a cytochrome b561 that is required for Drosophila learning and memory. Proc Natl Acad Sci U S A (2008) 0.91

Comparative genomic analysis of the zebra finch degradome provides new insights into evolution of proteases in birds and mammals. BMC Genomics (2010) 0.89

Amyloidogenic Oligomerization Transforms Drosophila Orb2 from a Translation Repressor to an Activator. Cell (2015) 0.88

Identification of gene expression changes associated with long-term memory of courtship rejection in Drosophila males. G3 (Bethesda) (2012) 0.88

A mental retardation gene, motopsin/neurotrypsin/prss12, modulates hippocampal function and social interaction. Eur J Neurosci (2009) 0.86

Fragile x mental retardation 1 and filamin a interact genetically in Drosophila long-term memory. Front Neural Circuits (2010) 0.85

Optimizing Drosophila olfactory learning with a semi-automated training device. J Neurosci Methods (2010) 0.82

An assay for social interaction in Drosophila fragile X mutants. Fly (Austin) (2010) 0.81

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Altered gene regulation and synaptic morphology in Drosophila learning and memory mutants. Learn Mem (2011) 0.79

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Cell-Type-Specific Transcriptome Analysis in the Drosophila Mushroom Body Reveals Memory-Related Changes in Gene Expression. Cell Rep (2016) 0.78

From Learning to Memory: What Flies Can Tell Us about Intellectual Disability Treatment. Front Psychiatry (2015) 0.78

A snapshot of the Ixodes scapularis degradome. Gene (2011) 0.78

Tequila Regulates Insulin-Like Signaling and Extends Life Span in Drosophila melanogaster. J Gerontol A Biol Sci Med Sci (2015) 0.78

Dynein-dynactin complex is essential for dendritic restriction of TM1-containing Drosophila Dscam. PLoS One (2008) 0.77

Debra, a protein mediating lysosomal degradation, is required for long-term memory in Drosophila. PLoS One (2011) 0.77

Next Generation Sequencing Identifies Five Major Classes of Potentially Therapeutic Enzymes Secreted by Lucilia sericata Medical Maggots. Biomed Res Int (2016) 0.75

Role of Drosophila Amyloid Precursor Protein in Memory Formation. Front Mol Neurosci (2016) 0.75

Presenilins regulate neurotrypsin gene expression and neurotrypsin-dependent agrin cleavage via cyclic AMP response element-binding protein (CREB) modulation. J Biol Chem (2013) 0.75

α-amanitin resistance in Drosophila melanogaster: A genome-wide association approach. PLoS One (2017) 0.75

Metabolic learning and memory formation by the brain influence systemic metabolic homeostasis. Nat Commun (2015) 0.75

Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet (2007) 4.99

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96

The DrosDel collection: a set of P-element insertions for generating custom chromosomal aberrations in Drosophila melanogaster. Genetics (2004) 3.71

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07

Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86

miR-122, a paradigm for the role of microRNAs in the liver. J Hepatol (2008) 2.61

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52

Exclusive consolidated memory phases in Drosophila. Science (2004) 2.50

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med (2004) 2.32

PKA dynamics in a Drosophila learning center: coincidence detection by rutabaga adenylyl cyclase and spatial regulation by dunce phosphodiesterase. Neuron (2010) 2.30

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet (2007) 2.22

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22

A subset of dopamine neurons signals reward for odour memory in Drosophila. Nature (2012) 2.20

Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am J Hum Genet (2009) 2.09

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation. Am J Psychiatry (2006) 2.05

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat (2007) 2.04

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet (2007) 2.03

Succinate dehydrogenase and human diseases: new insights into a well-known enzyme. Eur J Hum Genet (2002) 2.00

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology (2004) 1.98

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet (2004) 1.98

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest (2003) 1.92

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet (2008) 1.86

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet (2007) 1.86

Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood (2007) 1.84

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system. Hum Mutat (2011) 1.83

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science (2002) 1.80

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest (2007) 1.78

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet (2004) 1.78

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78

Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet (2011) 1.77

Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet (2005) 1.76

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science (2011) 1.74

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet (2013) 1.70

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet (2011) 1.70

Behavioral consequences of dopamine deficiency in the Drosophila central nervous system. Proc Natl Acad Sci U S A (2010) 1.67

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol (2007) 1.67

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat (2009) 1.67

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62

Plasma PCSK9 concentrations correlate with LDL and total cholesterol in diabetic patients and are decreased by fenofibrate treatment. Clin Chem (2008) 1.56

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. J Lipid Res (2005) 1.56

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr (2007) 1.54

Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat (2011) 1.54

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat (2014) 1.53

Mushroom body efferent neurons responsible for aversive olfactory memory retrieval in Drosophila. Nat Neurosci (2011) 1.53

Nuclear outsourcing of RNA interference components to human mitochondria. PLoS One (2011) 1.49

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48

Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia. Bone (2010) 1.46

CTG trinucleotide repeat "big jumps": large expansions, small mice. PLoS Genet (2007) 1.46

Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation. Eur Respir J (2012) 1.45

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet (2004) 1.45

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45

Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications. Blood (2007) 1.44

The place of 'social sexing' in medicine and science. Hum Reprod (2002) 1.44

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat (2007) 1.44

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43

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

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat (2011) 1.42

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet (2005) 1.41

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome. Dev Med Child Neurol (2006) 1.41

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet (2012) 1.38

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet (2009) 1.38

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet (2002) 1.36

The role of cAMP response element-binding protein in Drosophila long-term memory. J Neurosci (2004) 1.36

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat (2010) 1.34

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet (2011) 1.34

Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components. J Clin Endocrinol Metab (2008) 1.34

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet (2007) 1.33

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat Genet (2012) 1.33

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet (2003) 1.32

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat (2008) 1.31