Published in Arch Gen Psychiatry on October 01, 2010
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Expanding the toolbox of ADHD genetics. How can we make sense of parent of origin effects in ADHD and related behavioral phenotypes? Behav Brain Funct (2015) 0.75
Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. PLoS Med (2011) 3.94
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Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet (2005) 2.22
Familial diarrhea syndrome caused by an activating GUCY2C mutation. N Engl J Med (2012) 2.04
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am J Hum Genet (2010) 1.95
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet (2013) 1.91
FTO, type 2 diabetes, and weight gain throughout adult life: a meta-analysis of 41,504 subjects from the Scandinavian HUNT, MDC, and MPP studies. Diabetes (2011) 1.75
Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. Biochemistry (2002) 1.59
Risks for low intellectual performance related to being born small for gestational age are modified by gestational age. Pediatrics (2006) 1.54
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci (2005) 1.44
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Noninvasive acoustic cell trapping in a microfluidic perfusion system for online bioassays. Anal Chem (2007) 1.40
Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology (2009) 1.33
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. J Bone Miner Res (2013) 1.26
The serine/threonine kinase Cmk2 is required for oxidative stress response in fission yeast. J Biol Chem (2002) 1.24
Genetic and shared environmental factors do not confound the association between birth weight and hypertension: a study among Swedish twins. Circulation (2007) 1.23
Long-term efficacy and safety of treatment with stimulants and atomoxetine in adult ADHD: a review of controlled and naturalistic studies. Eur Neuropsychopharmacol (2012) 1.20
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab (2006) 1.19
Occupational outcome in adult ADHD: impact of symptom profile, comorbid psychiatric problems, and treatment: a cross-sectional study of 414 clinically diagnosed adult ADHD patients. J Atten Disord (2009) 1.18
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet J Rare Dis (2013) 1.16
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. Am J Ophthalmol (2006) 1.11
The 14-3-3 proteins in regulation of cellular metabolism. Semin Cell Dev Biol (2011) 1.07
Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5'-region are associated with bipolar affective disorder. Hum Mol Genet (2007) 1.05
Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. Proc Natl Acad Sci U S A (2006) 1.05
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet (2013) 1.05
Virtual colleagues, virtually colleagues--physicians' use of Twitter: a population-based observational study. BMJ Open (2013) 1.04
Regulation of tyrosine hydroxylase by stress-activated protein kinases. J Neurochem (2002) 1.03
The negative impact of attention-deficit/hyperactivity disorder on occupational health in adults and adolescents. Int Arch Occup Environ Health (2012) 1.02
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. Proc Natl Acad Sci U S A (2009) 1.01
Exome sequencing and genetic testing for MODY. PLoS One (2012) 1.00
Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease. J Biol Chem (2011) 0.99
Different properties of the central and peripheral forms of human tryptophan hydroxylase. J Neurochem (2005) 0.99
Pre- and perinatal risk factors in adults with attention-deficit/hyperactivity disorder. Biol Psychiatry (2011) 0.98
Phosphorylation and mutations of Ser(16) in human phenylalanine hydroxylase. Kinetic and structural effects. J Biol Chem (2002) 0.97
On-chip fluorescence-activated cell sorting by an integrated miniaturized ultrasonic transducer. Anal Chem (2009) 0.96
Three-way interaction between 14-3-3 proteins, the N-terminal region of tyrosine hydroxylase, and negatively charged membranes. J Biol Chem (2009) 0.94
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet J Rare Dis (2014) 0.94
Global gene expression profiling and tissue microarray reveal novel candidate genes and down-regulation of the tumor suppressor gene CAV1 in sporadic vestibular schwannomas. Neurosurgery (2010) 0.94
Activation and stabilization of human tryptophan hydroxylase 2 by phosphorylation and 14-3-3 binding. Biochem J (2008) 0.93
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Hum Genet (2009) 0.93
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. Invest Ophthalmol Vis Sci (2010) 0.93
Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase. J Neurochem (2008) 0.92
Adults with attention-deficit/hyperactivity disorder - a diffusion-tensor imaging study of the corpus callosum. Psychiatry Res (2012) 0.91
A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes: studies of HNF4A variants in the Norwegian MODY registry. Diabetes (2006) 0.91
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLoS One (2013) 0.91
Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. Invest Ophthalmol Vis Sci (2009) 0.90
Attention Network Test in adults with ADHD--the impact of affective fluctuations. Behav Brain Funct (2011) 0.90
Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. Biol Psychiatry (2009) 0.90
Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts. Cerebrospinal Fluid Res (2010) 0.90
Adult attention deficit hyperactivity disorder is associated with migraine headaches. Eur Arch Psychiatry Clin Neurosci (2011) 0.90
The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis. Pancreatology (2012) 0.89
Bipolar symptoms in adult attention-deficit/hyperactivity disorder: a cross-sectional study of 510 clinically diagnosed patients and 417 population-based controls. J Clin Psychiatry (2010) 0.89
Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I. Eur J Endocrinol (2002) 0.87
Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease. BMC Med Genet (2011) 0.86
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. Am J Ophthalmol (2013) 0.86
Limited gene flow among brown bear populations in far Northern Europe? Genetic analysis of the east-west border population in the Pasvik Valley. Mol Ecol (2012) 0.86
Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2. J Neurochem (2006) 0.85
Renal volume and function in school-age children born preterm or small for gestational age. Pediatr Nephrol (2008) 0.84
Cognitive control in adults with attention-deficit/hyperactivity disorder. Psychiatry Res (2011) 0.84
Microarray analysis reveals down-regulation of the tumour suppressor gene WWOX and up-regulation of the oncogene TYMS in intracranial sporadic meningiomas. J Neurooncol (2008) 0.84
Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study). BMC Med Genet (2011) 0.84
Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2. J Neurochem (2010) 0.84
Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice. Mol Genet Metab (2005) 0.83
Tryptophan as an evolutionarily conserved signal to brain serotonin: molecular evidence and psychiatric implications. World J Biol Psychiatry (2009) 0.83
Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3. Diabetes Care (2007) 0.83
Selectivity and affinity determinants for ligand binding to the aromatic amino acid hydroxylases. Curr Med Chem (2007) 0.83
Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. PLoS One (2013) 0.82
Glutamate cysteine ligase (GCL) and self reported depression: an association study from the HUNT. J Affect Disord (2011) 0.82
DISC1 in adult ADHD patients: an association study in two European samples. Am J Med Genet B Neuropsychiatr Genet (2013) 0.82
Functional properties of missense variants of human tryptophan hydroxylase 2. Hum Mutat (2009) 0.82
Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Diabetes (2009) 0.82
Exploring DRD4 and its interaction with SLC6A3 as possible risk factors for adult ADHD: a meta-analysis in four European populations. Am J Med Genet B Neuropsychiatr Genet (2011) 0.81
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. Invest Ophthalmol Vis Sci (2010) 0.81