Published in J Hum Genet on December 10, 2004
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet (2005) 2.75
Leopard syndrome. Orphanet J Rare Dis (2008) 1.69
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. Hum Mol Genet (2008) 1.50
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype". Eur J Pediatr (2006) 1.11
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. Eur J Pediatr (2005) 1.03
PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? Pediatr Cardiol (2009) 1.01
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet (2011) 3.05
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics (2003) 2.69
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature (2012) 2.66
Tyrosine kinase receptor RET is a key regulator of Peyer's patch organogenesis. Nature (2007) 2.65
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet (2004) 2.50
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet (2004) 2.45
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
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet (2002) 2.27
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet (2009) 2.22
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
3D analysis of facial morphology. Am J Med Genet A (2004) 1.95
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2011) 1.77
Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J (2008) 1.76
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet (2008) 1.65
Dysmorphology of Barth syndrome. Clin Dysmorphol (2009) 1.56
Homocysteine is a risk factor for cerebral small vessel disease, acting via endothelial dysfunction. Brain (2003) 1.55
Is the transportation highway the right road for hereditary spastic paraplegia? Am J Hum Genet (2002) 1.53
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am J Med Genet A (2010) 1.53
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain (2010) 1.51
A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ Cardiovasc Genet (2011) 1.48
Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. Circulation (2007) 1.46
Symptoms of men and women presenting with acute coronary syndromes. Am J Cardiol (2006) 1.46
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat (2010) 1.44
Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease. EMBO J (2013) 1.40
A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum. Am J Med Genet A (2013) 1.38
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays. Nucleic Acids Res (2004) 1.37
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet (2003) 1.34
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. J Med Genet (2011) 1.33
Barth syndrome. Orphanet J Rare Dis (2013) 1.33
Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. Eur J Hum Genet (2004) 1.31
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. Hum Genet (2009) 1.28
Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. PLoS One (2009) 1.28
Hepatitis C virus maintains infectivity for weeks after drying on inanimate surfaces at room temperature: implications for risks of transmission. J Infect Dis (2013) 1.26
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet (2013) 1.22
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet (2010) 1.21
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat (2008) 1.21
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Hum Mol Genet (2002) 1.20
Simultaneous normal and shear measurements of nanoconfined liquids in a fiber-based atomic force microscope. Rev Sci Instrum (2008) 1.20
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A (2006) 1.20
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet (2013) 1.18
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet (2010) 1.18
Ancestry as a determinant of mean population C-reactive protein values: implications for cardiovascular risk prediction. Circ Cardiovasc Genet (2010) 1.16
Lipedema: an inherited condition. Am J Med Genet A (2010) 1.16
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet (2009) 1.15
Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia. J Am Coll Cardiol (2012) 1.15
The social and psychological impact of endometriosis on women's lives: a critical narrative review. Hum Reprod Update (2013) 1.12
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain (2004) 1.11
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet (2012) 1.10
Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am J Hum Genet (2010) 1.08
Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. Am J Med Genet (2002) 1.07
Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest (2014) 1.07
A family with hereditary congenital facial paresis and a brief review of the literature. Clin Dysmorphol (2010) 1.06
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B. Hum Mutat (2003) 1.05
Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome. Pediatr Dev Pathol (2010) 1.04
Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes. PLoS One (2013) 1.04
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. Circ Res (2013) 1.03
Defective presynaptic choline transport underlies hereditary motor neuropathy. Am J Hum Genet (2012) 1.03
Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A (2003) 1.01
Common arterial trunk associated with a homeodomain mutation of NKX2.6. Hum Mol Genet (2005) 1.00
Analysis of published PKD1 gene sequence variants. Nat Genet (2007) 0.98
Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet (2012) 0.98
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol (2004) 0.97
Gene-gene interactions in breast cancer susceptibility. Hum Mol Genet (2011) 0.97
Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons. Exp Cell Res (2006) 0.96
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. Eur J Hum Genet (2011) 0.95
Lymphatic dysfunction, not aplasia, underlies Milroy disease. Microcirculation (2010) 0.95
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain (2013) 0.93
SLITRK6 mutations cause myopia and deafness in humans and mice. J Clin Invest (2013) 0.93
Consanguinity and deafness in Omani children. Int J Audiol (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
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. Eur J Hum Genet (2002) 0.92
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome. Curr Opin Genet Dev (2013) 0.92
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. Hum Genet (2007) 0.92
Chudley-McCullough syndrome: another report and a brief review of the literature. Clin Dysmorphol (2011) 0.91
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. Am J Kidney Dis (2009) 0.91
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. Diabetes (2002) 0.91
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. Neurogenetics (2008) 0.90
Homocysteine levels in men and women of different ethnic and cultural background living in England. Atherosclerosis (2002) 0.90
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum Genet (2008) 0.90