PubRank

André Reis

Author PubWeight™ 150.91‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet 2010 8.48
2 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012 8.42
3 Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet 2007 8.07
4 Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 2008 4.04
5 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010 3.82
6 A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet 2002 3.19
7 Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 2007 2.74
8 Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 2004 2.67
9 Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet 2010 2.56
10 CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 2009 2.41
11 Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 2006 2.31
12 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet 2012 2.12
13 Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet 2005 2.04
14 Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet 2002 1.99
15 Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol 2010 1.82
16 Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet 2009 1.71
17 Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci 2008 1.71
18 Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004 1.70
19 Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet 2004 1.62
20 Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat 2010 1.59
21 Common genetic variants associated with open-angle glaucoma. Hum Mol Genet 2011 1.58
22 NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet 2011 1.56
23 MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation. Hum Mutat 2014 1.45
24 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). Eur J Med Genet 2011 1.42
25 Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet 2005 1.40
26 Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. J Clin Invest 2011 1.39
27 Genotype-correlated expression of lysyl oxidase-like 1 in ocular tissues of patients with pseudoexfoliation syndrome/glaucoma and normal patients. Am J Pathol 2008 1.38
28 Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet 2013 1.34
29 Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet 2012 1.33
30 Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis. J Invest Dermatol 2008 1.32
31 A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. Eur J Hum Genet 2003 1.31
32 Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. J Invest Dermatol 2009 1.26
33 Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Am J Med Genet A 2004 1.26
34 Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. Eur Heart J 2010 1.25
35 Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet 2011 1.24
36 Genetic regulation of serum phytosterol levels and risk of coronary artery disease. Circ Cardiovasc Genet 2010 1.23
37 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
38 TNF polymorphisms in psoriasis: association of psoriatic arthritis with the promoter polymorphism TNF*-857 independent of the PSORS1 risk allele. Arthritis Rheum 2007 1.19
39 Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. Am J Med Genet 2002 1.19
40 Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration. EMBO Rep 2007 1.18
41 Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet 2007 1.15
42 Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet 2010 1.14
43 Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet 2007 1.14
44 Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients. Ann Rheum Dis 2009 1.13
45 Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet 2011 1.12
46 Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics 2009 1.10
47 Rare copy number variants are a common cause of short stature. PLoS Genet 2013 1.10
48 Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am J Hum Genet 2004 1.09
49 Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. Am J Med Genet A 2007 1.09
50 The German Chronic Kidney Disease (GCKD) study: design and methods. Nephrol Dial Transplant 2011 1.09
51 Genome scan for childhood and adolescent obesity in German families. Pediatrics 2003 1.08
52 Male restricted genetic association of variant R620W in PTPN22 with psoriatic arthritis. J Invest Dermatol 2006 1.07
53 Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2009 1.05
54 De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet 2013 1.01
55 Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago. Am J Med Genet A 2005 1.01
56 Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet 2002 1.00
57 Profiling of WDR36 missense variants in German patients with glaucoma. Invest Ophthalmol Vis Sci 2008 1.00
58 A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. Am J Hum Genet 2004 1.00
59 Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci 2009 1.00
60 Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat 2008 1.00
61 Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation. Arch Dermatol Res 2002 0.98
62 Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis. Arthritis Rheum 2003 0.98
63 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet 2014 0.96
64 A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany. J Hypertens 2009 0.94
65 Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse. Neurogenetics 2004 0.94
66 GPFrontend and GPGraphics: graphical analysis tools for genetic association studies. BMC Bioinformatics 2010 0.94
67 Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations. Int J Cancer 2014 0.93
68 Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris. J Invest Dermatol 2005 0.93
69 Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity. Hum Genet 2002 0.93
70 Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA-DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage-specific type II collagen in early rheumatoid arthritis. Arthritis Rheum 2006 0.91
71 Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitis. Arthritis Rheum 2013 0.91
72 Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. Endocrinol Metab Clin North Am 2006 0.91
73 Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p. Hum Mol Genet 2003 0.91
74 Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts. J Invest Dermatol 2005 0.90
75 A defect of CD16-positive monocytes can occur without disease. Immunobiology 2012 0.90
76 Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus. Arthritis Rheum 2011 0.90
77 Apolipoprotein E genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma. J Glaucoma 2010 0.89
78 Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet 2014 0.88
79 A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay. Eur J Med Genet 2008 0.86
80 V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice. Mamm Genome 2002 0.86
81 Novel autosomal recessive progressive hyperpigmentation syndrome. Am J Med Genet A 2005 0.86
82 Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation. Eur J Med Genet 2013 0.86
83 FcgammaRIIa genotype is associated with acute coronary syndromes as first manifestation of coronary artery disease. Atherosclerosis 2009 0.85
84 Loss-of-function variants of the filaggrin gene are not major susceptibility factors for psoriasis vulgaris or psoriatic arthritis in German patients. J Invest Dermatol 2007 0.85
85 A novel 5q35.3 subtelomeric deletion syndrome. Am J Med Genet A 2003 0.84
86 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. Am J Med Genet A 2006 0.83
87 Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. Hum Mutat 2010 0.83
88 Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis. Arthritis Rheum 2011 0.82
89 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. J Med Genet 2013 0.82
90 Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders. Eur J Med Genet 2013 0.82
91 Association of circulating levels of nicotinamide phosphoribosyltransferase (NAMPT/Visfatin) and of a frequent polymorphism in the promoter of the NAMPT gene with coronary artery disease in diabetic and non-diabetic subjects. Cardiovasc Diabetol 2013 0.82
92 Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability. Hum Mutat 2015 0.81
93 Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila. Hum Mutat 2014 0.81
94 NDST1 missense mutations in autosomal recessive intellectual disability. Am J Med Genet A 2014 0.81
95 Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization. Arthritis Res Ther 2012 0.81
96 Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. Eur J Hum Genet 2011 0.81
97 Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. Prenat Diagn 2006 0.80
98 HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. Am J Med Genet A 2014 0.80
99 Mild variable Noonan syndrome in a family with a novel PTPN11 mutation. Eur J Med Genet 2006 0.80
100 Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis. Cell Physiol Biochem 2007 0.79
101 Evaluation of conserved and ultra-conserved non-genic sequences in chromosome 15q15-linked periodic catatonia. Am J Med Genet B Neuropsychiatr Genet 2011 0.78
102 Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. Neuromuscul Disord 2004 0.78
103 Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. Eur J Hum Genet 2002 0.77
104 Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. Hum Mutat 2003 0.77
105 De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies. Am J Med Genet A 2012 0.76
106 Mutation analysis of the Nijmegen breakage syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes. Leuk Lymphoma 2003 0.76
107 Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. Hum Mutat 2014 0.76
108 High post surgical opioid requirements in Crohn's disease are not due to a general change in pain sensitivity. Eur J Pain 2009 0.76
109 Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family. Neurogenetics 2003 0.75
110 Patients with unstable angina pectoris show an increased frequency of the Fc gamma RIIa R131 allele. Autoimmunity 2012 0.75
111 Complete basal cell carcinoma remission with imiquimod in a patient with nevoid basal cell carcinoma syndrome and associated basal cell carcinoma of the scalp and invasive ductal breast cancer. J Am Acad Dermatol 2011 0.75
112 Biallelic SEMA3A defects cause a novel type of syndromic short stature. Am J Med Genet A 2013 0.75
113 Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11). Am J Med Genet A 2005 0.75
114 Lack of genetic association of the interleukin-4 receptor single-nucleotide polymorphisms I50V and Q551R with erosive disease in psoriatic arthritis. Arthritis Rheum 2006 0.75
115 Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum. Eur J Med Genet 2011 0.75
116 Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3. Am J Med Genet A 2005 0.75
117 Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. Clin Dysmorphol 2005 0.75
118 Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nat Genet 2015 0.75