PubRank

Markus M Nöthen

Author PubWeight™ 406.41‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Large recurrent microdeletions associated with schizophrenia. Nature 2008 20.25
2 Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 2009 15.15
3 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet 2011 13.25
4 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet 2012 11.09
5 Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet 2008 10.52
6 Common variants conferring risk of schizophrenia. Nature 2009 10.37
7 Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 2011 9.23
8 Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 2013 8.02
9 Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 2009 6.13
10 A genome-wide association study of alcohol dependence. Proc Natl Acad Sci U S A 2010 4.94
11 A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer. Nat Med 2012 4.90
12 Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet 2008 4.78
13 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009 4.38
14 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet 2014 4.13
15 Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet 2010 3.97
16 Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD. PLoS Genet 2010 3.91
17 Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet 2012 3.73
18 Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 2009 3.58
19 Direct conversion of fibroblasts into stably expandable neural stem cells. Cell Stem Cell 2012 3.52
20 Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. PLoS Genet 2010 3.21
21 High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron 2011 3.08
22 Genome-wide association study of alcohol dependence. Arch Gen Psychiatry 2009 3.08
23 Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet 2003 3.02
24 Genetic associations with valvular calcification and aortic stenosis. N Engl J Med 2013 3.02
25 G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet 2008 3.00
26 Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet 2009 2.93
27 Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet 2013 2.83
28 Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population. Genome Res 2003 2.75
29 Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet 2011 2.71
30 Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One 2010 2.57
31 Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1. Nat Genet 2010 2.46
32 Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Hum Mol Genet 2011 2.21
33 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet 2012 2.15
34 Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biol Psychiatry 2010 2.07
35 The neuronal transporter gene SLC6A15 confers risk to major depression. Neuron 2011 2.02
36 Brain function in carriers of a genome-wide supported bipolar disorder variant. Arch Gen Psychiatry 2010 1.95
37 Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet 2005 1.94
38 Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. Am J Psychiatry 2011 1.94
39 Common variants on 8p12 and 1q24.2 confer risk of schizophrenia. Nat Genet 2011 1.88
40 Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology 2013 1.83
41 Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. Nat Genet 2013 1.83
42 Susceptibility variants for male-pattern baldness on chromosome 20p11. Nat Genet 2008 1.80
43 Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet 2006 1.78
44 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
45 Evidence for a relationship between genetic variants at the brain-derived neurotrophic factor (BDNF) locus and major depression. Biol Psychiatry 2005 1.61
46 Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet 2006 1.45
47 Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. Blood 2013 1.45
48 No association between the serine racemase gene (SRR) and schizophrenia in a German case-control sample. Psychiatr Genet 2007 1.42
49 Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. Am J Med Genet A 2006 1.40
50 Genome-wide association-, replication-, and neuroimaging study implicates HOMER1 in the etiology of major depression. Biol Psychiatry 2010 1.39
51 Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster. Addict Biol 2011 1.37
52 The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia. Biol Psychiatry 2011 1.36
53 Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet 2013 1.34
54 A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet 2007 1.32
55 Breakthroughs in the genetics of orofacial clefting. Trends Mol Med 2011 1.32
56 The power of sample size and homogenous sampling: association between the 5-HTTLPR serotonin transporter polymorphism and major depressive disorder. Biol Psychiatry 2005 1.31
57 Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet 2009 1.31
58 Achalasia: will genetic studies provide insights? Hum Genet 2010 1.30
59 At-risk variant in TCF7L2 for type II diabetes increases risk of schizophrenia. Biol Psychiatry 2011 1.26
60 The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease. Am J Hum Genet 2003 1.26
61 Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. J Clin Invest 2014 1.25
62 Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder. Nat Commun 2013 1.25
63 Association between schizophrenia and common variation in neurocan (NCAN), a genetic risk factor for bipolar disorder. Schizophr Res 2012 1.24
64 Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet 2011 1.21
65 Genotype-phenotype studies in bipolar disorder showing association between the DAOA/G30 locus and persecutory delusions: a first step toward a molecular genetic classification of psychiatric phenotypes. Am J Psychiatry 2005 1.21
66 Genetic determination of human facial morphology: links between cleft-lips and normal variation. Eur J Hum Genet 2011 1.17
67 Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. Am J Psychiatry 2010 1.16
68 Support of the histaminergic hypothesis in Tourette syndrome: association of the histamine decarboxylase gene in a large sample of families. J Med Genet 2013 1.16
69 Common genetic variants and gene-expression changes associated with bipolar disorder are over-represented in brain signaling pathway genes. Biol Psychiatry 2012 1.15
70 Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet 2012 1.14
71 Common variation at 10p12.31 near MLLT10 influences meningioma risk. Nat Genet 2011 1.12
72 Association of the functional V158M catechol-O-methyl-transferase polymorphism with panic disorder in women. Int J Neuropsychopharmacol 2004 1.12
73 High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nat Genet 2013 1.11
74 Computer-assisted phenotype characterization for genetic research in psychiatry. Hum Hered 2004 1.10
75 Genome-wide association study in German patients with attention deficit/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 2011 1.09
76 Partial support for ZNF804A genotype-dependent alterations in prefrontal connectivity. Hum Brain Mapp 2011 1.09
77 A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia. Hum Mol Genet 2010 1.08
78 Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers. Arch Gen Psychiatry 2012 1.08
79 Linkage-disequilibrium-based binning affects the interpretation of GWASs. Am J Hum Genet 2012 1.07
80 Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis. Hum Mutat 2012 1.07
81 Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet 2003 1.07
82 Further evidence for DYX1C1 as a susceptibility factor for dyslexia. Psychiatr Genet 2009 1.06
83 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
84 Familial occurrence of the VATER/VACTERL association. Pediatr Surg Int 2012 1.05
85 Implication of a rare deletion at distal 16p11.2 in schizophrenia. JAMA Psychiatry 2013 1.05
86 Molecular genetic overlap in bipolar disorder, schizophrenia, and major depressive disorder. World J Biol Psychiatry 2012 1.04
87 The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis 2012 1.02
88 Association between copy number variants in 16p11.2 and major depressive disorder in a German case-control sample. Am J Med Genet B Neuropsychiatr Genet 2012 1.00
89 In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. J Invest Dermatol 2009 1.00
90 A systematic eQTL study of cis-trans epistasis in 210 HapMap individuals. Eur J Hum Genet 2011 1.00
91 Investigation of interaction between DCDC2 and KIAA0319 in a large German dyslexia sample. J Neural Transm (Vienna) 2008 1.00
92 Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample. Psychiatr Genet 2008 1.00
93 Association analysis of Neuregulin 1 candidate regions in schizophrenia and bipolar disorder. Neurosci Lett 2010 1.00
94 ZNF804A and cortical structure in schizophrenia: in vivo and postmortem studies. Schizophr Bull 2013 0.99
95 Genetics of dyslexia: the evolving landscape. J Med Genet 2007 0.99
96 Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25. Birth Defects Res A Clin Mol Teratol 2010 0.98
97 Longer telomere length in patients with schizophrenia. Schizophr Res 2013 0.98
98 A systems medicine research approach for studying alcohol addiction. Addict Biol 2013 0.98
99 Association of a functional 1019C>G 5-HT1A receptor gene polymorphism with panic disorder with agoraphobia. Int J Neuropsychopharmacol 2004 0.97
100 Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter. Schizophr Res 2009 0.97
101 The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations. Hum Mol Genet 2009 0.97
102 Identification of mutations in the human hairless gene in two new families with congenital atrichia. Arch Dermatol Res 2007 0.96
103 Familial aggregation of alopecia areata. J Am Acad Dermatol 2006 0.96
104 Familial occurrence of systemic mast cell activation disease. PLoS One 2013 0.95
105 Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study. BMC Med Genet 2013 0.95
106 Volition diminishes genetically mediated amygdala hyperreactivity. Neuroimage 2009 0.95
107 Inherited genetic susceptibility to monoclonal gammopathy of unknown significance. Blood 2014 0.94
108 Retraction for Dixson et al., Identification of gene ontologies linked to prefrontal-hippocampal functional coupling in the human brain. Proc Natl Acad Sci U S A 2014 0.94
109 Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients. Am J Med Genet B Neuropsychiatr Genet 2004 0.94
110 Norepinephrine transporter (NET) promoter and 5'-UTR polymorphisms: association analysis in panic disorder. Neurosci Lett 2004 0.93
111 New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis. Int J Epidemiol 2015 0.93
112 De novo microduplication at 22q11.21 in a patient with VACTERL association. Eur J Med Genet 2010 0.93
113 Feasible and successful: genome-wide interaction analysis involving all 1.9 x 10(11) pair-wise interaction tests. Hum Hered 2010 0.93
114 Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers. BMC Psychiatry 2004 0.93
115 Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. Am J Hum Genet 2008 0.93
116 G72 and its association with major depression and neuroticism in large population-based groups from Germany. Am J Psychiatry 2008 0.93
117 Serotonin transporter 5HTTLPR polymorphism and affective disorders: no evidence of association in a large European multicenter study. Eur J Hum Genet 2004 0.93
118 IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. Eur J Oral Sci 2009 0.93
119 Association of rs1006737 in CACNA1C with alterations in prefrontal activation and fronto-hippocampal connectivity. Hum Brain Mapp 2013 0.92
120 Genome-wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin. Am J Med Genet A 2009 0.92
121 Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. Eur J Hum Genet 2011 0.92
122 Premorbid adjustment in schizophrenia--an important aspect of phenotype definition. Schizophr Res 2007 0.91
123 Copy number variants in German patients with schizophrenia. PLoS One 2013 0.91
124 Reduced anxiety and depression-like behaviours in the circadian period mutant mouse afterhours. PLoS One 2012 0.91
125 Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significance. J Invest Dermatol 2012 0.91
126 A genome-wide supported variant in CACNA1C influences hippocampal activation during episodic memory encoding and retrieval. Eur Arch Psychiatry Clin Neurosci 2013 0.91
127 Lack of support for a genetic association of the XBP1 promoter polymorphism with bipolar disorder in probands of European origin. Nat Genet 2004 0.90
128 TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate. J Hum Genet 2008 0.90
129 Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24. Am J Hum Genet 2005 0.90
130 Association of major depression with rare functional variants in norepinephrine transporter and serotonin1A receptor genes. Am J Med Genet B Neuropsychiatr Genet 2009 0.90
131 Mapping for dyslexia and related cognitive trait loci provides strong evidence for further risk genes on chromosome 6p21. Am J Med Genet B Neuropsychiatr Genet 2010 0.90
132 Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness. Hum Genet 2009 0.90
133 Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe. J Pediatr 2011 0.89
134 Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics. Immunology 2012 0.89
135 Replication study and meta-analysis in European samples supports association of the 3p21.1 locus with bipolar disorder. Biol Psychiatry 2012 0.89
136 Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene. J Allergy Clin Immunol 2007 0.89
137 Hippocampal function in healthy carriers of the CLU Alzheimer's disease risk variant. J Neurosci 2011 0.89
138 Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients. Eur J Oral Sci 2010 0.89
139 Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III. J Clin Invest 2015 0.89
140 αCaMKII autophosphorylation controls the establishment of alcohol drinking behavior. Neuropsychopharmacology 2013 0.89
141 The FU gene and its possible protein isoforms. BMC Genomics 2004 0.89
142 Suicide attempts in schizophrenia and affective disorders with relation to some specific demographical and clinical characteristics. Eur Psychiatry 2005 0.89
143 VEGF gene haplotypes are associated with sarcoidosis. Chest 2009 0.89
144 Investigation of the HLA-DRB1 locus in alopecia areata. Eur J Dermatol 2006 0.89
145 Genetic variants in CTLA4 are strongly associated with alopecia areata. J Invest Dermatol 2011 0.89
146 Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. Eur J Med Genet 2010 0.89
147 Association study of nonsynonymous single nucleotide polymorphisms in schizophrenia. Biol Psychiatry 2011 0.88
148 Genetic variation in the schizophrenia-risk gene neuregulin 1 correlates with brain activation and impaired speech production in a verbal fluency task in healthy individuals. Hum Brain Mapp 2009 0.88
149 Impact of schizophrenia-risk gene dysbindin 1 on brain activation in bilateral middle frontal gyrus during a working memory task in healthy individuals. Hum Brain Mapp 2010 0.88
150 Coronary artery calcification and its relationship to validated genetic variants for diabetes mellitus assessed in the Heinz Nixdorf recall cohort. Arterioscler Thromb Vasc Biol 2010 0.88
151 Missing heritability in the tails of quantitative traits? A simulation study on the impact of slightly altered true genetic models. Hum Hered 2011 0.88
152 The genetics of panic disorder. J Med Genet 2011 0.88
153 Gene-based analysis of regionally enriched cortical genes in GWAS data sets of cognitive traits and psychiatric disorders. PLoS One 2012 0.88
154 Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. Nat Commun 2013 0.88
155 Common obesity risk alleles in childhood attention-deficit/hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 2013 0.88
156 Identification of a keratin-associated protein with a putative role in vesicle transport. Eur J Cell Biol 2007 0.88
157 No association between the putative functional ZDHHC8 single nucleotide polymorphism rs175174 and schizophrenia in large European samples. Biol Psychiatry 2005 0.88
158 Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample. Am J Med Genet A 2013 0.88
159 An interstitial deletion of chromosome 7 at band q21: a case report and review. Am J Med Genet A 2005 0.87
160 Nonsyndromic cleft lip with or without cleft palate in arab populations: genetic analysis of 15 risk loci in a novel case-control sample recruited in Yemen. Birth Defects Res A Clin Mol Teratol 2014 0.87
161 Developmental dyslexia--recurrence risk estimates from a german bi-center study using the single proband sib pair design. Hum Hered 2005 0.87
162 The catechol-O-methyl transferase (COMT) gene and its potential association with schizophrenia: findings from a large German case-control and family-based sample. Schizophr Res 2010 0.87
163 Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking. Genet Epidemiol 2013 0.87
164 The G72/G30 gene locus in psychiatric disorders: a challenge to diagnostic boundaries? Schizophr Bull 2006 0.87
165 A putative high risk diplotype of the G72 gene is in healthy individuals associated with better performance in working memory functions and altered brain activity in the medial temporal lobe. Neuroimage 2009 0.87
166 Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with differences in frontal brain activation in a working memory task in healthy individuals. Neuroimage 2008 0.87
167 Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease. J Invest Dermatol 2007 0.86
168 Inheritance of the VATER/VACTERL association. Pediatr Surg Int 2012 0.86
169 VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clin Dysmorphol 2012 0.86
170 Variation in P2RX7 candidate gene (rs2230912) is not associated with bipolar I disorder and unipolar major depression in four European samples. Am J Med Genet B Neuropsychiatr Genet 2009 0.86
171 SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations. Behav Genet 2011 0.86
172 Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris. J Invest Dermatol 2012 0.86
173 Dopamine D4 receptor gene (DRD4) variants and schizophrenia: meta-analyses. Schizophr Res 2003 0.86
174 The effect of neurogranin on neural correlates of episodic memory encoding and retrieval. Schizophr Bull 2011 0.86
175 Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with personality traits in healthy individuals. Eur Psychiatry 2008 0.85
176 Neuregulin 3 is associated with attention deficits in schizophrenia and bipolar disorder. Int J Neuropsychopharmacol 2012 0.85
177 Studies in humans and mice implicate neurocan in the etiology of mania. Am J Psychiatry 2012 0.85
178 Association between a promoter dopamine D2 receptor gene variant and the personality trait detachment. Biol Psychiatry 2003 0.85
179 Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology. J Invest Dermatol 2013 0.85
180 Genetic variation in G72 correlates with brain activation in the right middle temporal gyrus in a verbal fluency task in healthy individuals. Hum Brain Mapp 2011 0.85
181 Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients. Am J Med Genet A 2009 0.85
182 Epigenetic alteration of the dopamine transporter gene in alcohol-dependent patients is associated with age. Addict Biol 2012 0.85
183 A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. Arch Dermatol Res 2008 0.84
184 Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex. Am J Med Genet A 2006 0.84
185 De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. Eur J Hum Genet 2013 0.84
186 Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease. Orphanet J Rare Dis 2013 0.84
187 Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Int J Cancer 2014 0.84
188 Premorbid adjustment: a phenotype highlighting a distinction rather than an overlap between schizophrenia and bipolar disorder. Schizophr Res 2009 0.84
189 Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report. J Am Acad Dermatol 2010 0.84
190 Can long-range microsatellite data be used to predict short-range linkage disequilibrium? Hum Mol Genet 2002 0.84
191 Glutamate receptor δ 1 (GRID1) genetic variation and brain structure in schizophrenia. J Psychiatr Res 2012 0.84
192 Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region. Birth Defects Res A Clin Mol Teratol 2014 0.83
193 Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate. Birth Defects Res A Clin Mol Teratol 2012 0.83
194 A reappraisal of the association between Dysbindin (DTNBP1) and schizophrenia in a large combined case-control and family-based sample of German ancestry. Schizophr Res 2010 0.83
195 Reduced cortical thickness is associated with the glutamatergic regulatory gene risk variant DAOA Arg30Lys in schizophrenia. Neuropsychopharmacology 2011 0.83
196 Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. Eur J Oral Sci 2009 0.83
197 New Genetic Findings in Schizophrenia: Is there Still Room for the Dopamine Hypothesis of Schizophrenia? Front Behav Neurosci 2010 0.83
198 Possible association between genetic variants at the GRIN1 gene and schizophrenia with lifetime history of depressive symptoms in a German sample. Psychiatr Genet 2007 0.83
199 The effect of Neuregulin 1 on neural correlates of episodic memory encoding and retrieval. Neuroimage 2009 0.83
200 The impact of a Dysbindin schizophrenia susceptibility variant on fiber tract integrity in healthy individuals: a TBSS-based diffusion tensor imaging study. Neuroimage 2011 0.82
201 Investigation of the tryptophan hydroxylase 2 gene in bipolar I disorder in the Romanian population. Psychiatr Genet 2008 0.82
202 The two most common alleles of the coding GGN repeat in the androgen receptor gene cause differences in protein function. J Mol Endocrinol 2007 0.82
203 Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies. Birth Defects Res A Clin Mol Teratol 2014 0.82
204 Dual association of a TRKA polymorphism with schizophrenia. Psychiatr Genet 2011 0.82
205 De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations. Am J Med Genet A 2013 0.82
206 The effects of a DTNBP1 gene variant on attention networks: an fMRI study. Behav Brain Funct 2010 0.81
207 Genetic variation in the G72 gene is associated with increased frontotemporal fiber tract integrity. Eur Arch Psychiatry Clin Neurosci 2014 0.81
208 A new susceptibility locus for bipolar affective disorder in PAR1 on Xp22.3/Yp11.3. Am J Med Genet B Neuropsychiatr Genet 2010 0.81
209 Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients. Schizophr Res 2011 0.81
210 Association study between two variants in the DOPA decarboxylase gene in bipolar and unipolar affective disorder. Am J Med Genet 2002 0.81
211 Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12. Birth Defects Res A Clin Mol Teratol 2013 0.81
212 Efficient strategy for detecting gene × gene joint action and its application in schizophrenia. Genet Epidemiol 2013 0.80
213 Genome-wide association data provide further support for an association between 5-HTTLPR and major depressive disorder. J Affect Disord 2012 0.80
214 Association between a polymorphism in the pseudoautosomal X-linked gene SYBL1 and bipolar affective disorder. Am J Med Genet 2002 0.80
215 Mood-incongruent psychosis in bipolar disorder: conditional linkage analysis shows genome-wide suggestive linkage at 1q32.3, 7p13 and 20q13.31. Bipolar Disord 2009 0.80
216 Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway. Birth Defects Res A Clin Mol Teratol 2014 0.79
217 Possible association of Down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature. Eur J Pediatr 2008 0.79
218 Family history influences age of onset in bipolar I disorder in females but not in males. Am J Med Genet B Neuropsychiatr Genet 2005 0.79
219 DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder. PLoS One 2012 0.79
220 The impact of dystrobrevin-binding protein 1 (DTNBP1) on neural correlates of episodic memory encoding and retrieval. Hum Brain Mapp 2010 0.79
221 No association between a putative functional promoter variant in the dopamine beta-hydroxylase gene and schizophrenia. Psychiatr Genet 2003 0.79
222 The effect of G72 genotype on neural correlates of memory encoding and retrieval. Neuroimage 2009 0.79
223 Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate. Eur J Oral Sci 2012 0.79
224 Prenatal diagnosis of Pfeiffer syndrome type II. Prenat Diagn 2004 0.78
225 Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? Am J Med Genet A 2008 0.78
226 Involvement of the WNT and FGF signaling pathways in non-isolated anorectal malformations: sequencing analysis of WNT3A, WNT5A, WNT11, DACT1, FGF10, FGFR2 and the T gene. Int J Mol Med 2012 0.78
227 Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder. Birth Defects Res A Clin Mol Teratol 2012 0.78
228 Association study between genetic variants at the PIP5K2A gene locus and schizophrenia and bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet 2006 0.78
229 SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in Central European patients. Int J Pediatr Otorhinolaryngol 2010 0.78
230 No evidence for an association between variants at the proline dehydrogenase locus and schizophrenia or bipolar affective disorder. Psychiatr Genet 2005 0.78
231 Association study of a functional promoter polymorphism in the XBP1 gene and schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2006 0.78
232 Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet 2012 0.78
233 Investigation of four novel male androgenetic alopecia susceptibility loci: no association with female pattern hair loss. Arch Dermatol Res 2013 0.78
234 Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects. BMC Psychiatry 2009 0.78
235 Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population. Birth Defects Res A Clin Mol Teratol 2013 0.78
236 A summary statistic approach to sequence variation in noncoding regions of six schizophrenia-associated gene loci. Eur J Hum Genet 2006 0.78
237 Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous Iranian family. Birth Defects Res A Clin Mol Teratol 2010 0.78
238 No association between genetic variants at the GLYT2 gene and bipolar affective disorder and schizophrenia. Psychiatr Genet 2006 0.78
239 Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent. Int J Pediatr Otorhinolaryngol 2009 0.78
240 Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum. Birth Defects Res A Clin Mol Teratol 2013 0.78
241 De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. Am J Med Genet A 2011 0.77
242 Tourette syndrome is not caused by mutations in the central cannabinoid receptor (CNR1) gene. Am J Med Genet B Neuropsychiatr Genet 2004 0.77
243 Further evidence for a susceptibility locus contributing to reading disability on chromosome 15q15-q21. Psychiatr Genet 2008 0.77
244 Association study between genetic variants at the VAMP2 and VAMP3 loci and bipolar affective disorder. Psychiatr Genet 2008 0.77
245 A one-degree-of-freedom test for supra-multiplicativity of SNP effects. PLoS One 2013 0.77
246 Investigation of six novel susceptibility loci for male androgenetic alopecia in women with female pattern hair loss. J Dermatol Sci 2013 0.77
247 Segment-wise genome-wide association analysis identifies a candidate region associated with schizophrenia in three independent samples. PLoS One 2012 0.77
248 Further evidence for age of onset being an indicator for severity in bipolar disorder. J Affect Disord 2002 0.77
249 No evidence for an involvement of copy number variation in ABCA13 in schizophrenia, bipolar disorder, or major depressive disorder. Psychiatr Genet 2013 0.77
250 No evidence for an association between variants at the gamma-amino-n-butyric acid type A receptor beta2 locus and schizophrenia. Psychiatr Genet 2007 0.77
251 Comprehensive epidemiological and genotype-phenotype analyses in a large European sample with idiopathic achalasia. Eur J Gastroenterol Hepatol 2016 0.76
252 Analysis of genome-wide significant bipolar disorder genes in borderline personality disorder. Psychiatr Genet 2014 0.76
253 Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: no association with female pattern hair loss identified. Exp Dermatol 2012 0.76
254 No association between the D-aspartate oxidase locus and schizophrenia. Psychiatr Genet 2009 0.76
255 A systematic association mapping on chromosome 6q in bipolar affective disorder--evidence for the melanin-concentrating-hormone-receptor-2 gene as a risk factor for bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet 2010 0.76
256 No association between genetic variants at the ASCT1 gene and schizophrenia or bipolar disorder in a German sample. Psychiatr Genet 2006 0.76
257 Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities. Birth Defects Res A Clin Mol Teratol 2014 0.76
258 DRD4 exon 3 variants are not associated with symptomatology of major psychoses in a German population. Neurosci Lett 2004 0.76
259 Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature. Fetal Diagn Ther 2010 0.76
260 Genetic variation at the synaptic vesicle gene SV2A is associated with schizophrenia. Schizophr Res 2012 0.76
261 No association between genetic variants at the GRIN1 gene and bipolar disorder in a German sample. Psychiatr Genet 2006 0.76
262 Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss. Arch Dermatol Res 2012 0.76
263 Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias. Gene 2012 0.76
264 No evidence for DUP25 in patients with panic disorder using a quantitative real-time PCR approach. Hum Genet 2003 0.76
265 Association between neuropeptide Y receptor Y2 promoter variant rs6857715 and major depressive disorder. Psychiatr Genet 2017 0.76
266 No association between the serine racemase gene (SRR) and bipolar disorder in a German case-control sample. Psychiatr Genet 2007 0.75
267 Is there a phenotypic difference between probands in case-control versus family-based association studies? Am J Med Genet B Neuropsychiatr Genet 2003 0.75
268 Identifying genetic factors in common diseases: more helpful in relation to etiology than prediction. Dtsch Arztebl Int 2013 0.75
269 Association study of the GRIA1 and CLINT1 (Epsin 4) genes in a German schizophrenia sample. Psychiatr Genet 2011 0.75
270 The impact of genetics on psychiatric nosology. Am J Psychiatry 2006 0.75
271 Exploring genetic variants predisposing to diabetes mellitus and their association with indicators of socioeconomic status. BMC Public Health 2014 0.75
272 Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2. Psychiatr Genet 2016 0.75
273 High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA). J Cyst Fibros 2007 0.75
274 Expert and self-assessment of lifetime symptoms and diagnosis of major depressive disorder in large-scale genetic studies in the general population: comparison of a clinical interview and a self-administered checklist. Psychiatr Genet 2017 0.75
275 Brief report: no association between premorbid adjustment in adult-onset schizophrenia and genetic variation in Dysbindin. J Autism Dev Disord 2008 0.75
276 Possible association of different G72/G30 SNPs with mood episodes and persecutory delusions in bipolar I Romanian patients. Prog Neuropsychopharmacol Biol Psychiatry 2010 0.75
277 CNV analysis in monozygotic twin pairs discordant for urorectal malformations. Twin Res Hum Genet 2013 0.75
278 Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study. Acta Derm Venereol 2017 0.75
279 No association between genetic variants at the DGCR2 gene and schizophrenia in a German sample. Psychiatr Genet 2009 0.75
280 Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature. Eur J Pediatr 2010 0.75
281 Association study of 20 genetic variants at the (D)-amino acid oxidase gene in schizophrenia. Psychiatr Genet 2010 0.75
282 A common microdeletion affecting a hippocampus- and amygdala-specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders. Bipolar Disord 2014 0.75
283 Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nat Genet 2015 0.75
284 Smoking behaviour: investigation of the coaction of environmental and genetic risk factors. Psychiatr Genet 2014 0.75
285 Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors. Fam Cancer 2012 0.75
286 No evidence for association between NOTCH4 and schizophrenia in a large family-based and case-control association analysis. Psychiatr Genet 2006 0.75
287 Association study of dopamine D2, D3, D4 receptor and serotonin transporter gene polymorphisms with sleep attacks in Parkinson's disease. Mov Disord 2004 0.75
288 Family-based association studies of alpha-adrenergic receptor genes in chromosomal regions with linkage to bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet 2004 0.75
289 Effect of copy number variant burden on Global Assessment of Functioning in schizophrenia. Psychiatr Genet 2016 0.75
290 Further evidence for genetic variation at the serotonin transporter gene SLC6A4 contributing toward anxiety. Psychiatr Genet 2017 0.75
291 Systematic screening for mutations in the human N-methyl-D-aspartate receptor 1 gene in schizophrenic patients from the German population. Psychiatr Genet 2004 0.75
292 KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation. Acta Derm Venereol 2005 0.75
293 Embryonic expression of the cysteine rich protein 61 (CYR61) gene: A candidate for the development of human epispadias. Birth Defects Res A Clin Mol Teratol 2010 0.75