Published in BMC Genomics on May 26, 2009
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Optimized protocol for linear RNA amplification and application to gene expression profiling of human renal biopsies. Biotechniques (2003) 1.18
Direct labeling of RNA with multiple biotins allows sensitive expression profiling of acute leukemia class predictor genes. Nucleic Acids Res (2004) 1.16
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Complementary RNA amplification methods enhance microarray identification of transcripts expressed in the C. elegans nervous system. BMC Genomics (2008) 1.12
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Generation of a non-small cell lung cancer transcriptome microarray. BMC Med Genomics (2008) 1.01
Characterization of a method for profiling gene expression in cells recovered from intact human prostate tissue using RNA linear amplification. Prostate Cancer Prostatic Dis (2006) 1.00
Validation and application of a high fidelity mRNA linear amplification procedure for profiling gene expression. Vet Immunol Immunopathol (2005) 0.99
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Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA. Anal Biochem (2006) 0.83
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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
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miR-122, a paradigm for the role of microRNAs in the liver. J Hepatol (2008) 2.61
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet (2007) 2.22
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Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet (2007) 2.03
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology (2004) 1.98
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet (2004) 1.98
Frequent PTEN genomic alterations and activated phosphatidylinositol 3-kinase pathway in basal-like breast cancer cells. Breast Cancer Res (2008) 1.94
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93
Mesenchymal transition and dissemination of cancer cells is driven by myeloid-derived suppressor cells infiltrating the primary tumor. PLoS Biol (2011) 1.92
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet (2007) 1.86
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Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders. Eur J Hum Genet (2002) 1.72
Clinical significance of immunocytochemical detection of tumor cells using digital microscopy in peripheral blood and bone marrow of breast cancer patients. Clin Cancer Res (2004) 1.68
FGFR3 and TP53 gene mutations define two distinct pathways in urothelial cell carcinoma of the bladder. Cancer Res (2003) 1.64
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Adams-Oliver syndrome and hepatoportal sclerosis: occasional association or common mechanism? Am J Med Genet A (2005) 1.61
Molecular profiling of patient-derived breast cancer xenografts. Breast Cancer Res (2012) 1.58
Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat (2011) 1.54
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat (2014) 1.53
Integrated genomic and transcriptomic analysis of ductal carcinoma in situ of the breast. Clin Cancer Res (2008) 1.50
Nuclear outsourcing of RNA interference components to human mitochondria. PLoS One (2011) 1.49
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45
Interleukin-32, CCL2, PF4F1 and GFD10 are the only cytokine/chemokine genes differentially expressed by in vitro cultured rheumatoid and osteoarthritis fibroblast-like synoviocytes. Eur Cytokine Netw (2005) 1.44
Establishment and characterization of a panel of human uveal melanoma xenografts derived from primary and/or metastatic tumors. Clin Cancer Res (2010) 1.42
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat (2011) 1.42
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet (2005) 1.41
Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay. Clin Dysmorphol (2009) 1.38
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Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet (2011) 1.34
Fast dissociation kinetics between individual E-cadherin fragments revealed by flow chamber analysis. EMBO J (2002) 1.32
TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat (2009) 1.28
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet (2007) 1.28
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REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat (2011) 1.26
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet (2006) 1.24
C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet (2013) 1.24
Polyalanine expansions in human. Hum Mol Genet (2004) 1.23
Human neural crest cells display molecular and phenotypic hallmarks of stem cells. Hum Mol Genet (2008) 1.23
Genomic profiling and identification of high-risk uveal melanoma by array CGH analysis of primary tumors and liver metastases. Invest Ophthalmol Vis Sci (2009) 1.22
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet (2013) 1.22
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat (2014) 1.21
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Hum Mol Genet (2005) 1.20
Polo-like kinase 1: a potential therapeutic option in combination with conventional chemotherapy for the management of patients with triple-negative breast cancer. Cancer Res (2012) 1.20
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet (2002) 1.19
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A (2009) 1.17
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Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis. J Pediatr Gastroenterol Nutr (2006) 1.16
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur J Hum Genet (2008) 1.16
Beta1 integrins are required for the invasion of the caecum and proximal hindgut by enteric neural crest cells. Development (2009) 1.16
Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis (2011) 1.16
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model. Dev Biol (2013) 1.15
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. Am J Respir Crit Care Med (2007) 1.14
New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases). J Pediatr Surg (2006) 1.14
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat (2008) 1.14
Designs and challenges for personalized medicine studies in oncology: focus on the SHIVA trial. Target Oncol (2012) 1.13
TTK/hMPS1 is an attractive therapeutic target for triple-negative breast cancer. PLoS One (2013) 1.13
ITALICS: an algorithm for normalization and DNA copy number calling for Affymetrix SNP arrays. Bioinformatics (2008) 1.12
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet (2013) 1.12
Patient-derived xenografts recapitulate molecular features of human uveal melanomas. Mol Oncol (2013) 1.11
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet (2012) 1.10
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Noonan syndrome: relationships between genotype, growth, and growth factors. J Clin Endocrinol Metab (2005) 1.10
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Combined microsatellite and FGFR3 mutation analysis enables a highly sensitive detection of urothelial cell carcinoma in voided urine. Clin Cancer Res (2003) 1.08
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions. Eur J Hum Genet (2011) 1.08
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A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. Am J Hum Genet (2012) 1.07
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Mutations in TP53, but not FGFR3, in urothelial cell carcinoma of the bladder are influenced by smoking: contribution of exogenous versus endogenous carcinogens. Carcinogenesis (2004) 1.07
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet (2013) 1.06
Evidence for a resident subset of cells with SP phenotype in the C2C12 myogenic line: a tool to explore muscle stem cell biology. Exp Cell Res (2004) 1.05
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome. Pediatr Res (2008) 1.04
High-resolution mapping of DNA breakpoints to define true recurrences among ipsilateral breast cancers. J Natl Cancer Inst (2007) 1.04
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. Mol Cell Biol (2010) 1.02
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. Am J Hum Genet (2013) 1.02
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