PubRank

Dagmar Wieczorek

Author PubWeight™ 109.02‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012 8.42
2 Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011 4.85
3 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010 3.82
4 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 2006 3.69
5 CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet 2010 3.25
6 Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 2002 3.09
7 Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2010 2.52
8 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum 2010 2.50
9 Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science 2011 2.47
10 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
11 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet 2011 2.09
12 Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature. Dev Med Child Neurol 2014 1.95
13 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet 2012 1.70
14 Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet A 2010 1.68
15 Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet 2012 1.57
16 Cohen syndrome diagnosis using whole genome arrays. J Med Genet 2010 1.55
17 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 2011 1.50
18 A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet 2008 1.49
19 Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. Am J Med Genet A 2006 1.45
20 Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 2004 1.44
21 A mutation screen in patients with Kabuki syndrome. Hum Genet 2011 1.36
22 Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet 2008 1.34
23 Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet 2012 1.32
24 Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet 2010 1.31
25 Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet 2012 1.24
26 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet 2013 1.24
27 Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet 2003 1.23
28 Syndrome identification based on 2D analysis software. Eur J Hum Genet 2006 1.22
29 A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. Eur J Hum Genet 2009 1.20
30 Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet 2005 1.19
31 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A 2007 1.18
32 Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A 2005 1.17
33 A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet 2012 1.17
34 Genetic determination of human facial morphology: links between cleft-lips and normal variation. Eur J Hum Genet 2011 1.17
35 Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 2005 1.15
36 A family with autosomal dominant oculo-auriculo-vertebral spectrum. Clin Dysmorphol 2007 1.12
37 Rare copy number variants are a common cause of short stature. PLoS Genet 2013 1.10
38 Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet 2009 1.10
39 Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat 2013 1.08
40 SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet 2007 1.08
41 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat 2010 1.08
42 Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Am J Med Genet A 2006 1.04
43 Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease. J Clin Endocrinol Metab 2013 1.03
44 The face of Noonan syndrome: Does phenotype predict genotype. Am J Med Genet A 2010 1.03
45 Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Mol Med 2013 1.01
46 Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet 2011 1.01
47 Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. Eur J Hum Genet 2006 0.98
48 Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. Behav Brain Funct 2013 0.96
49 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
50 De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. Eur J Hum Genet 2011 0.96
51 Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. Eur J Hum Genet 2011 0.95
52 Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat 2008 0.94
53 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. Hum Genet 2015 0.94
54 Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum Mol Genet 2006 0.92
55 Altered development of NKT cells, γδ T cells, CD8 T cells and NK cells in a PLZF deficient patient. PLoS One 2011 0.92
56 Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum Mutat 2012 0.91
57 Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces. Eur J Med Genet 2007 0.91
58 Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome. Clin Dysmorphol 2003 0.90
59 Computer-based recognition of dysmorphic faces. Eur J Hum Genet 2003 0.89
60 Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. Am J Med Genet A 2012 0.89
61 Automated syndrome detection in a set of clinical facial photographs. Am J Med Genet A 2011 0.87
62 Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet J Rare Dis 2013 0.86
63 Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet 2014 0.84
64 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. Am J Med Genet A 2013 0.83
65 Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet 2012 0.83
66 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. Eur J Med Genet 2013 0.83
67 Left-ventricular non-compaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expected. Eur J Med Genet 2008 0.82
68 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
69 Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. Eur J Pediatr 2012 0.81
70 X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. Orphanet J Rare Dis 2013 0.80
71 Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature. Am J Med Genet A 2007 0.80
72 Parental origin and functional relevance of a de novo UBE3A variant. Eur J Med Genet 2010 0.80
73 No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome. Am J Med Genet A 2003 0.80
74 Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1. Am J Med Genet A 2010 0.79
75 Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. Neuromuscul Disord 2009 0.79
76 Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. Eur J Hum Genet 2009 0.79
77 Infectious and immunologic phenotype of MECP2 duplication syndrome. J Clin Immunol 2015 0.78
78 RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J Clin Invest 2015 0.77
79 Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. Eur J Hum Genet 2013 0.76
80 Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. Am J Med Genet A 2011 0.76
81 A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome. Clin Dysmorphol 2014 0.75
82 Homozygous truncating PTPRF mutation causes athelia. Hum Genet 2014 0.75
83 X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. Clin Dysmorphol 2016 0.75
84 Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet 2017 0.75