PubRank

Bernhard Zabel

Author PubWeight™ 63.57‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 2011 4.27
2 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010 3.82
3 Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet 2011 2.16
4 TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i. Proc Natl Acad Sci U S A 2003 2.01
5 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat 2010 1.88
6 TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet 2008 1.68
7 Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. Proc Natl Acad Sci U S A 2005 1.65
8 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet 2006 1.63
9 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 2011 1.55
10 Of mice and models: improved animal models for biomedical research. Physiol Genomics 2002 1.49
11 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet 2004 1.45
12 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
13 Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet 2013 1.39
14 The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet 2012 1.23
15 Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A 2010 1.20
16 Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet 2005 1.19
17 Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A 2010 1.17
18 Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet 2008 1.15
19 Interaction of TGFβ and BMP signaling pathways during chondrogenesis. PLoS One 2011 1.13
20 Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat 2011 1.13
21 Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet 2011 1.12
22 Filamin A mutation is one cause of FG syndrome. Am J Med Genet A 2007 1.10
23 RMRP mutations in cartilage-hair hypoplasia. Am J Med Genet A 2006 1.07
24 FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet 2013 1.06
25 Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor. Nat Genet 2005 1.05
26 Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. Am J Med Genet A 2004 1.03
27 Reversible anonymization of DICOM images using automatically generated policies. Stud Health Technol Inform 2009 1.03
28 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
29 Localization of the cis-enhancer element for mouse type X collagen expression in hypertrophic chondrocytes in vivo. J Bone Miner Res 2009 0.99
30 Osteopathia striata with cranial sclerosis owing to WTX gene defect. J Bone Miner Res 2010 0.98
31 Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet 2008 0.98
32 Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet 2009 0.98
33 Expression profile of Papss2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) during cartilage formation and skeletal development in the mouse embryo. Dev Dyn 2007 0.97
34 Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. Behav Brain Funct 2013 0.96
35 TRPV4-associated skeletal dysplasias. Am J Med Genet C Semin Med Genet 2012 0.96
36 Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A 2005 0.95
37 TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. Am J Med Genet A 2012 0.95
38 Brachy-syndactyly caused by loss of Sfrp2 function. J Cell Physiol 2008 0.94
39 Switching off HER-2/neu in a tetracycline-controlled mouse tumor model leads to apoptosis and tumor-size-dependent remission. Cancer Res 2003 0.93
40 Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. Eur J Hum Genet 2009 0.93
41 Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease. Cell Mol Life Sci 2010 0.88
42 Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. Eur J Hum Genet 2006 0.87
43 Lmx1b expression during joint and tendon formation: localization and evaluation of potential downstream targets. Gene Expr Patterns 2004 0.85
44 Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type. Pediatr Radiol 2003 0.85
45 Expression profiling of human fetal growth plate cartilage by EST sequencing. Matrix Biol 2005 0.84
46 Grebe dysplasia and the spectrum of CDMP1 mutations. Pediatr Pathol Mol Med 2003 0.84
47 Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. Matrix Biol 2013 0.81
48 Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? Am J Med Genet A 2011 0.81
49 SPOC1, a novel PHD-finger protein: association with residual disease and survival in ovarian cancer. Int J Cancer 2005 0.80
50 Clinical Utility Gene Card for: campomelic dysplasia. Eur J Hum Genet 2012 0.78
51 Dephosphorylation of p-ERK1/2 in relation to tumor remission after HER-2 and Raf1 blocking therapy in a conditional mouse tumor model. Mol Carcinog 2006 0.77
52 Clinical and radiographic delineation of odontochondrodysplasia. Am J Med Genet A 2008 0.77
53 C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. J Clin Endocrinol Metab 2014 0.76
54 In vitro cultured islet-derived progenitor cells of human origin express human albumin in severe combined immunodeficiency mouse liver in vivo. Stem Cells 2004 0.75
55 Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation. Am J Med Genet A 2010 0.75