J A Knowles

Author PubWeight™ 65.97‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet 2000 4.42
2 Genome-wide association study of recurrent early-onset major depressive disorder. Mol Psychiatry 2010 2.05
3 Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. Mol Psychiatry 2009 2.03
4 Sea urchin (lytechinus pictus) late-stage histone H3 and H4 genes: characterization and mapping of a clustered but nontandemly linked multigene family. Cell 1982 1.69
5 TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat Genet 1998 1.60
6 Genome-wide association study of obsessive-compulsive disorder. Mol Psychiatry 2012 1.57
7 Genome-wide association study of Tourette's syndrome. Mol Psychiatry 2012 1.42
8 Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. Proc Natl Acad Sci U S A 1997 1.36
9 BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur Respir J 2002 1.31
10 Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B. Genomics 1993 1.28
11 BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. Eur Respir J 2004 1.28
12 Identification of a novel member of the TGF-beta superfamily highly expressed in human placenta. Gene 1997 1.26
13 Investigation of serotonin-related genes in antidepressant response. Mol Psychiatry 2004 1.26
14 Is obsessive-compulsive disorder an anxiety disorder, and what, if any, are spectrum conditions? A family study perspective. Psychol Med 2011 1.25
15 Genomewide linkage scan for obsessive-compulsive disorder: evidence for susceptibility loci on chromosomes 3q, 7p, 1q, 15q, and 6q. Mol Psychiatry 2006 1.24
16 Fine mapping of PPH1, a gene for familial primary pulmonary hypertension, to a 3-cM region on chromosome 2q33. Am J Respir Crit Care Med 2000 1.21
17 Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study. Am J Med Genet B Neuropsychiatr Genet 2009 1.21
18 Potential panic disorder syndrome: clinical and genetic linkage evidence. Am J Med Genet 2000 1.20
19 Evidence for a putative bipolar disorder locus on 2p13-16 and other potential loci on 4q31, 7q34, 8q13, 9q31, 10q21-24, 13q32, 14q21 and 17q11-12. Mol Psychiatry 2003 1.19
20 Central nervous system and cardiovascular effects of lorazepam in man. Clin Pharmacol Ther 1971 1.17
21 Temporal expression of late histone messenger RNA in the sea urchin Lytechinus pictus. Proc Natl Acad Sci U S A 1984 1.17
22 Chromosome-12 mapping of late-onset Alzheimer disease among Caribbean Hispanics. Am J Hum Genet 2001 1.13
23 Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics. Mol Psychiatry 2004 1.13
24 Comparison of the late H1 histone genes of the sea urchins Lytechinus pictus and Strongelocentrotus purpuratus. Nucleic Acids Res 1986 1.09
25 Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. Invest Ophthalmol Vis Sci 1999 1.09
26 The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1). Genomics 1997 1.08
27 A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus. Am J Hum Genet 1999 1.07
28 Drawbacks of GENEHUNTER for larger pedigrees: application to panic disorder. Am J Med Genet 2000 1.04
29 Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. Eur Respir J 2004 1.03
30 A family-based association study of the glutamate transporter gene SLC1A1 in obsessive-compulsive disorder in 378 families. Am J Med Genet B Neuropsychiatr Genet 2009 1.03
31 Clinical pharmacokinetics of lorazepam. II. Intramuscular injection. Clin Pharmacol Ther 1977 1.02
32 Perils of gene mapping with microsatellite markers. Am J Hum Genet 1992 0.99
33 Obsessive-compulsive disorder: subclassification based on co-morbidity. Psychol Med 2008 0.97
34 Isolation, characterization, and expression of the gene encoding the late histone subtype H1-gamma of the sea urchin Strongylocentrotus purpuratus. Mol Cell Biol 1987 0.97
35 Clinical pharmacokinetics of lorazepam. III. Intravenous injection. Preliminary results. J Clin Pharmacol 1977 0.94
36 Meta-analysis of association between obsessive-compulsive disorder and the 3' region of neuronal glutamate transporter gene SLC1A1. Am J Med Genet B Neuropsychiatr Genet 2013 0.93
37 Disposition of 7-chloro-5-(o-chlorophenyl)-1,3-dihydro-3-hydroxy-2H-1,4-benzodiazepin-2-one (lorazepam) in humans. Determination of the drug by electron capture gas chromatography. Arzneimittelforschung 1971 0.93
38 Association of SLC6A4 variants with obsessive-compulsive disorder in a large multicenter US family study. Mol Psychiatry 2009 0.92
39 Absorption and excretion of 7-chloro-1,3-dihydro-3-hydroxy-5-phenyl-2H-1,4-benzodiazepin-2-one (oxazepam) in humans. Determination of the drug by gas-liquid chromatography with electron capture detection. Arzneimittelforschung 1972 0.91
40 Breast milk: a source of more than nutrition for the neonate. Clin Toxicol 1974 0.90
41 Lack of genetic linkage or association between a functional serotonin transporter polymorphism and panic disorder. Psychiatr Genet 1999 0.89
42 The deletion polymorphism and Val1000Ile in alpha-2-macroglobulin and Alzheimer disease in Caribbean Hispanics. Neurosci Lett 2000 0.85
43 Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21. Am J Hum Genet 1995 0.85
44 Disposition of 4,5-diphenyl-2-oxazolepropionic acid (oxaprozin) in beagle dogs and rhesus monkeys. Drug Metab Dispos 1978 0.85
45 Association between a catechol-o-methyltransferase polymorphism and obsessive-compulsive disorder in the Afrikaner population. J Affect Disord 2001 0.83
46 Gender differences in genetic linkage and association on 11p15 in obsessive-compulsive disorder families. Am J Med Genet B Neuropsychiatr Genet 2009 0.81
47 Genetic aspects of pulmonary arterial hypertension. Ann Med 2001 0.81
48 Homeobox genes in obsessive-compulsive disorder. Am J Med Genet B Neuropsychiatr Genet 2011 0.81
49 Clinical pharmacokinetics of lorazepam. I. Absorption and disposition of oral 14C-lorazepam. Clin Pharmacol Ther 1976 0.81
50 Parent-of-origin effect in panic disorder. Am J Med Genet 1999 0.80
51 Pinworms--Incidence, predictability and treatment with thiabendazole. Calif Med 1967 0.80
52 High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. Genome Res 1997 0.79
53 No association or linkage between polymorphisms in the genes encoding cholecystokinin and the cholecystokinin B receptor and panic disorder. Mol Psychiatry 2001 0.77
54 D8/17 in obsessive-compulsive disorder and trichotillomania. S Afr Med J 1999 0.77
55 No genetic linkage or association between a functional promoter polymorphism in the monoamine oxidase-A gene and panic disorder. Mol Psychiatry 2000 0.77
56 Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. Genomics 1998 0.77
57 Applications of pooled DNA samples to the assessment of population affinities: short tandem repeats. Hum Biol 2005 0.76
58 Bipolar disorder and chromosome 18p11: uncertainties redux. Psychiatr Genet 2000 0.76
59 Chromosome 18p11 and linkage to bipolar disorder revisited. Psychiatr Genet 1999 0.75
60 Investigation of dopamine receptor (DRD4) and dopamine transporter (DAT) polymorphisms for genetic linkage or association to panic disorder. Am J Med Genet 2000 0.75
61 Pulmonary alveolar proteinosis in an infant. East Afr Med J 1981 0.75
62 Oxaprozin disposition in renal disease. Clin Pharmacol Ther 1982 0.75
63 Effects on the infant of drug therapy in nursing mothers. Drug Ther (NY) 1973 0.75
64 Determination of promethazine in human plasma by automated high-performance liquid chromatography with electrochemical detection and by gas chromatography-mass spectrometry. J Chromatogr 1985 0.75
65 Cardiac electrophysiology of the antiarrhythmic agent recainam (Wy-42,362) in anesthetized dogs: relation to plasma and myocardial concentrations. J Cardiovasc Pharmacol 1988 0.75
66 Effects of food on oxaprozin bioavailability. J Clin Pharmacol 1984 0.75
67 Venereal disease in adolescence. Med Arts Sci 1968 0.75
68 Gas chromatographic determination of guanabenz in biological fluids by electron-capture detection. J Pharm Sci 1982 0.75
69 Macro- and micromethods for high-performance liquid chromatographic analysis of oxaprozin in plasma. J Pharm Sci 1980 0.75
70 Clinical pharmacokinetics of lorazepam. IV. Long-term oral administration. J Clin Pharmacol 1977 0.75
71 Diastereoisomeric glucuronides of oxazepam. Isolation and stereoselective enzymic hydrolysis. Drug Metab Dispos 1979 0.75
72 Determination of cycloleucine in biological fluids. Anal Biochem 1969 0.75
73 Effect of chronic renal failure on oxaprozin multiple-dose pharmacokinetics. Clin Pharmacol Ther 1988 0.75