Published in Hum Mutat on September 09, 2011
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NOTCH signaling in skeletal progenitors is critical for fracture repair. J Clin Invest (2016) 1.41
NOTCH2 mutations in Alagille syndrome. J Med Genet (2011) 1.40
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet (2012) 1.32
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Notch signaling and bone remodeling. Curr Osteoporos Rep (2013) 0.83
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Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. BMC Med Genet (2014) 0.82
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Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet (2003) 5.82
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G protein-coupled receptor-dependent development of human frontal cortex. Science (2004) 4.42
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Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet (2011) 2.86
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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet (2007) 2.55
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum Genet (2004) 2.53
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J (2007) 2.39
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet (2009) 2.37
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet (2003) 2.36
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet (2011) 2.18
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet (2010) 2.05
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem (2005) 2.05
PhenoTips: patient phenotyping software for clinical and research use. Hum Mutat (2013) 2.04
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
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Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet (2003) 1.89
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Bone turnover markers in the management of postmenopausal osteoporosis. Clin Biochem (2009) 1.85
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Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res (2008) 1.81
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet (2010) 1.81
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
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De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet (2010) 1.79
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Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res (2006) 1.78
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet (2004) 1.70
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KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet (2011) 1.66
Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Hum Mol Genet (2008) 1.66
A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet (2013) 1.66
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet (2011) 1.65
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
Bisphosphonates for treatment of osteoporosis: expected benefits, potential harms, and drug holidays. Can Fam Physician (2014) 1.63
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet (2003) 1.61
Current consequences of prenatal diagnosis of congenital diaphragmatic hernia. J Pediatr Surg (2006) 1.60
SHANK1 Deletions in Males with Autism Spectrum Disorder. Am J Hum Genet (2012) 1.59
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
Impact of Sim1 gene dosage on the development of the paraventricular and supraoptic nuclei of the hypothalamus. Eur J Neurosci (2009) 1.54
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am J Hum Genet (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
Prenatal diagnosis of trisomy 17 mosaicism. Prenat Diagn (2007) 1.51
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes (2004) 1.50
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat (2012) 1.50
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet (2012) 1.49
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet (2005) 1.49
X chromosome array-CGH for the identification of novel X-linked mental retardation genes. Eur J Med Genet (2005) 1.47
Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet (2011) 1.46
Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect. Can J Cardiol (2013) 1.46
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet (2002) 1.45
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet (2013) 1.44
Recurrent pancreatitis in mitochondrial cytopathy. Am J Med Genet A (2006) 1.44
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. Hum Mol Genet (2003) 1.43
Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet (2013) 1.43
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Teriparatide increases bone formation in modeling and remodeling osteons and enhances IGF-II immunoreactivity in postmenopausal women with osteoporosis. J Bone Miner Res (2006) 1.41