Published in Eur J Hum Genet on February 01, 2003
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet (2005) 2.75
Molecular and comparative genetics of mental retardation. Genetics (2004) 2.38
The cardiofaciocutaneous syndrome. J Med Genet (2006) 2.32
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood (2005) 1.80
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79
The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child (2006) 1.29
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet (2007) 1.08
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Eur J Hum Genet (2008) 0.94
Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation. J Biol Chem (2008) 0.93
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet (2004) 0.92
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. Eur J Hum Genet (2013) 0.92
Xenopus: An emerging model for studying congenital heart disease. Birth Defects Res A Clin Mol Teratol (2011) 0.89
Tumor development in three patients with Noonan syndrome. Eur J Pediatr (2007) 0.88
SHP-2 expression negatively regulates NK cell function. J Immunol (2009) 0.85
SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton. Development (2012) 0.84
LEOPARD Syndrome: Clinical Features and Gene Mutations. Mol Syndromol (2012) 0.82
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Hum Genet (2015) 0.79
PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome. Pediatr Cardiol (2009) 0.78
Aortic root dilatation is a rare complication of Noonan syndrome. Pediatr Cardiol (2006) 0.78
Atrioventricular canal defect in patients with RASopathies. Eur J Hum Genet (2012) 0.77
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment. Eur J Pediatr (2011) 0.76
The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I). Rare Dis (2015) 0.75
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. Clin Case Rep (2015) 0.75
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. Nature (2006) 5.57
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet (2007) 5.28
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81
New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med (2005) 2.74
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
Elements of morphology: standard terminology for the ear. Am J Med Genet A (2009) 2.64
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet (2010) 2.52
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum (2010) 2.50
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science (2011) 2.47
Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. J Invest Dermatol (2013) 2.31
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet (2007) 2.22
BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci (2002) 2.19
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
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
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet (2009) 2.09
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet (2003) 2.03
Wnt signaling and Dupuytren's disease. N Engl J Med (2011) 2.02
Elevated levels of Rad51 recombination protein in tumor cells. Cancer Res (2002) 2.00
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A (2003) 1.98
Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature. Dev Med Child Neurol (2014) 1.95
Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain (2008) 1.94
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. Am J Med Genet A (2005) 1.91
"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. Am J Med Genet (2002) 1.91
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science (2013) 1.91
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet (2010) 1.87
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet (2010) 1.86
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am J Med Genet A (2007) 1.80
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet (2004) 1.78
RAD21 mutations cause a human cohesinopathy. Am J Hum Genet (2012) 1.72
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet (2008) 1.70
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet A (2010) 1.68
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet (2003) 1.61
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol (2013) 1.58
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet (2004) 1.55
Cohen syndrome diagnosis using whole genome arrays. J Med Genet (2010) 1.55
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. Am J Med Genet A (2009) 1.55
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A (2003) 1.52
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet (2003) 1.52
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet (2006) 1.51
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
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2010) 1.49
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet (2008) 1.49
Biguanide metformin acts on tau phosphorylation via mTOR/protein phosphatase 2A (PP2A) signaling. Proc Natl Acad Sci U S A (2010) 1.46
Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet (2005) 1.46
Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. Am J Med Genet A (2006) 1.45
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet (2005) 1.45
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2009) 1.44
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet (2004) 1.44
Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation. Am J Med Genet A (2004) 1.43
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet (2011) 1.40
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. Eur J Pediatr (2004) 1.39
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet (2012) 1.38
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur J Hum Genet (2005) 1.38