Published in Hum Mutat on October 01, 2010
Genetics of cleft lip and cleft palate. Am J Med Genet C Semin Med Genet (2013) 1.38
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet J Rare Dis (2012) 1.15
New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet (2014) 1.05
MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling. Proc Natl Acad Sci U S A (2012) 1.00
Mediator kinase module and human tumorigenesis. Crit Rev Biochem Mol Biol (2015) 0.98
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am J Med Genet A (2013) 0.97
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. Eur J Hum Genet (2011) 0.96
Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. J Appl Genet (2012) 0.89
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. Hum Mutat (2011) 0.85
A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex. BMC Med Genet (2014) 0.85
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. Ann Clin Transl Neurol (2016) 0.83
The epidemiology, genetics and future management of syndactyly. Open Orthop J (2012) 0.81
Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype. Eur J Pediatr (2013) 0.80
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. Endocr Rev (2016) 0.80
Sonic Hedgehog Signaling and VACTERL Association. Mol Syndromol (2013) 0.79
GLI3 is rarely implicated in OFD syndromes with midline abnormalities. Hum Mutat (2011) 0.78
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet (2016) 0.77
Identification and functional characterization of novel transcriptional enhancers involved in regulating human GLI3 expression during early development. Dev Growth Differ (2015) 0.76
Renal anomalies associated with ectopic neurohypophysis. J Clin Res Pediatr Endocrinol (2011) 0.75
Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly. J Hum Genet (2016) 0.75
A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient. Meta Gene (2014) 0.75
A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies. Am J Med Genet A (2017) 0.75
The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the GLI3 gene in a Chinese population. J Genet (2017) 0.75
Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function. PLoS Genet (2005) 6.15
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature (1991) 3.25
Elements of morphology: standard terminology for the periorbital region. Am J Med Genet A (2009) 2.53
Elements of morphology: standard terminology for the hands and feet. Am J Med Genet A (2009) 2.44
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet (1997) 2.28
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet (2005) 2.24
Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet (2001) 2.07
GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity. Mol Cell Biol (1990) 1.76
GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. Proc Natl Acad Sci U S A (1999) 1.63
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. Clin Genet (2005) 1.58
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet (1999) 1.44
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet (1999) 1.40
Mutation in GLI3 in postaxial polydactyly type A. Nat Genet (1997) 1.38
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet (2003) 1.31
Oral-facial-digital syndromes: review and diagnostic guidelines. Am J Med Genet A (2007) 1.29
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet (2002) 1.23
On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. Am J Med Genet (1991) 1.07
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. Am J Med Genet A (2007) 1.04
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet A (2003) 1.02
Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery. J Med Genet (2009) 1.00
Report from the workshop on Pallister-Hall syndrome and related phenotypes. Am J Med Genet (1996) 0.96
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. Clin Genet (2000) 0.95
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes. J Med Genet (2006) 0.95
Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome). Am J Med Genet (1994) 0.91
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. Pediatr Radiol (2008) 0.91
Gonadal mosaicism in severe Pallister-Hall syndrome. Am J Med Genet A (2004) 0.88
Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. Am J Med Genet A (2007) 0.88
Oral-facial-digital syndrome with hypothalamic hamartoma, postaxial ray hypoplasia of the limbs, and vagino-cystic communication: a new variant? Am J Med Genet (1999) 0.87
Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes. Genes Chromosomes Cancer (2005) 0.86
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. Am J Med Genet (2001) 0.85
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation. Am J Med Genet A (2005) 0.84
Greig syndrome based on a de novo translocation. Pediatr Int (2008) 0.80
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med (2013) 22.73
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives. Am J Bioeth (2012) 7.50
Addressing the ethical challenges in genetic testing and sequencing of children. Am J Bioeth (2014) 7.34
Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet (2010) 6.74
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet (2007) 4.93
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet (2006) 4.68
Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA (2006) 4.51
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet (2012) 4.45
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
First-trimester use of selective serotonin-reuptake inhibitors and the risk of birth defects. N Engl J Med (2007) 4.25
Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med (2012) 4.04
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Swallowed partial dentures. J R Soc Med (2004) 4.01
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr (2004) 3.86
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet (2007) 3.84
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Guidelines for case classification for the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol (2003) 3.75
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat (2007) 3.52
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet (2006) 3.29
The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med (2003) 3.28
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med (2007) 3.18
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet (2010) 3.09
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet (2011) 3.05
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism. Am J Med Genet A (2006) 3.01
VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. Autophagy (2010) 2.99
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr (2006) 2.97
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
Fabry's disease. Lancet (2008) 2.89
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85
Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry. Lancet (2013) 2.82
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet (2005) 2.77
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
An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A (2005) 2.74
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet (2004) 2.72
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A (2012) 2.70
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet (2004) 2.70
Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Res A Clin Mol Teratol (2007) 2.69
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A (2010) 2.68
Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. Eur J Hum Genet (2011) 2.64
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. Arthritis Rheum (2013) 2.60
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
Elements of morphology: standard terminology for the periorbital region. Am J Med Genet A (2009) 2.53
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet (2007) 2.51
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab (2007) 2.51
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet (2002) 2.50
Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations. J Clin Oncol (2011) 2.49
VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics (2011) 2.47
Exome sequencing makes medical genomics a reality. Nat Genet (2010) 2.47
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics (2009) 2.44
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell (2012) 2.43
Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. J Clin Endocrinol Metab (2007) 2.41
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation (2006) 2.41
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med (2002) 2.39
Elements of morphology: introduction. Am J Med Genet A (2009) 2.39
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet (2005) 2.38
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet (2012) 2.34
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet (2002) 2.33
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood (2004) 2.32
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology (2013) 2.32
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab (2006) 2.27
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet (2005) 2.25
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet (2008) 2.24
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet (2005) 2.22