PubRank

Per M Knappskog

Author PubWeight™ 40.77‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Familial diarrhea syndrome caused by an activating GUCY2C mutation. N Engl J Med 2012 2.04
2 Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet 2011 1.98
3 Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am J Hum Genet 2010 1.95
4 Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. Biochemistry 2002 1.59
5 Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci 2005 1.44
6 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
7 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
8 A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. Am J Ophthalmol 2006 1.11
9 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
10 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
11 Exome sequencing and genetic testing for MODY. PLoS One 2012 1.00
12 Different properties of the central and peripheral forms of human tryptophan hydroxylase. J Neurochem 2005 0.99
13 Phosphorylation and mutations of Ser(16) in human phenylalanine hydroxylase. Kinetic and structural effects. J Biol Chem 2002 0.97
14 STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet J Rare Dis 2014 0.94
15 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
16 Activation and stabilization of human tryptophan hydroxylase 2 by phosphorylation and 14-3-3 binding. Biochem J 2008 0.93
17 A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. Invest Ophthalmol Vis Sci 2010 0.93
18 Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. Arch Gen Psychiatry 2010 0.92
19 Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. Invest Ophthalmol Vis Sci 2009 0.90
20 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
21 Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts. Cerebrospinal Fluid Res 2010 0.90
22 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
23 Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease. BMC Med Genet 2011 0.86
24 Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. Am J Ophthalmol 2013 0.86
25 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
26 Characterization of wild-type and mutant forms of human tryptophan hydroxylase 2. J Neurochem 2006 0.85
27 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
28 Functional properties of missense variants of human tryptophan hydroxylase 2. Hum Mutat 2009 0.82
29 Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. PLoS One 2013 0.82
30 Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. Invest Ophthalmol Vis Sci 2010 0.81
31 DIRAS2 is associated with adult ADHD, related traits, and co-morbid disorders. Neuropsychopharmacology 2011 0.80
32 Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. Am J Med Genet A 2010 0.80
33 Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. J Mol Diagn 2009 0.79
34 The purification and application of biologically active recombinant steroid cytochrome P450 21-hydroxylase: the major autoantigen in autoimmune Addison's disease. J Autoimmun 2009 0.79
35 Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. Hum Mutat 2014 0.78
36 Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene. Brain Dev 2012 0.78
37 Clinical manifestation of a novel PAX6 mutation Arg128Pro. Arch Ophthalmol 2008 0.77
38 Inverse correlation between PDGFC expression and lymphocyte infiltration in human papillary thyroid carcinomas. BMC Cancer 2009 0.77
39 Expression and purification of human tryptophan hydroxylase from Escherichia coli and Pichia pastoris. Protein Expr Purif 2004 0.77
40 Stability of glycoprotein gene sequences of herpes simplex virus type 2 from primary to recurrent human infection, and diversity of the sequences among patients attending an STD clinic. BMC Infect Dis 2014 0.77
41 Autoantibodies against 21-hydroxylase and side-chain cleavage enzyme in autoimmune Addison's disease are mainly immunoglobulin G1. Eur J Endocrinol 2004 0.76
42 Epitope mapping of human aromatic L-amino acid decarboxylase. Biochem Biophys Res Commun 2006 0.75
43 Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. J Neurol 2013 0.75
44 Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet 2017 0.75