Published in Hum Mutat on June 01, 2007
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res (2009) 10.08
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet (2008) 1.90
A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum Mol Genet (2009) 1.55
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet (2009) 1.50
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? Hum Mutat (2009) 1.03
Mouse models of ciliopathies: the state of the art. Dis Model Mech (2012) 0.94
Clinical utility gene card for: Meckel syndrome. Eur J Hum Genet (2011) 0.80
MKS1 regulates ciliary INPP5E levels in Joubert syndrome. J Med Genet (2015) 0.77
Clinical utility gene card for: Meckel syndrome - update 2016. Eur J Hum Genet (2016) 0.75
Meckel-Gruber syndrome: Antenatal diagnosis and ethical perspectives. Sudan J Paediatr (2012) 0.75
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45
Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med (2002) 6.94
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet (2006) 4.01
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Genetic loci influencing kidney function and chronic kidney disease. Nat Genet (2010) 3.75
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet (2002) 3.21
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) (2005) 3.01
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Retracted Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet (2003) 2.70
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet (2010) 2.35
Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome. Pediatr Nephrol (2008) 2.30
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet (2003) 2.27
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet (2009) 2.22
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain (2011) 2.15
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat (2008) 2.03
Genome-wide association study reveals three susceptibility loci for common migraine in the general population. Nat Genet (2011) 1.98
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. J Am Soc Nephrol (2012) 1.93
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol (2003) 1.81
Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol (2003) 1.70
Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nat Genet (2012) 1.64
Chemokine receptor (CCR2) genotype is associated with myocardial infarction and heart failure in patients under 65 years of age. J Mol Med (Berl) (2003) 1.63
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61
The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. J Am Soc Nephrol (2002) 1.60
Juvenile polyarteritis: results of a multicenter survey of 110 children. J Pediatr (2004) 1.57
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int (2005) 1.55
Long-term survival in severe combined immune deficiency: the role of persistent maternal engraftment. J Pediatr (2005) 1.53
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res (2009) 1.53
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet (2012) 1.52
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet (2007) 1.52
Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Hum Genet (2003) 1.52
Additive effects of the chemokine receptor 2, vitamin D receptor, interleukin-6 polymorphisms and cardiovascular risk factors on the prevalence of myocardial infarction in patients below 65 years. Int J Cardiol (2005) 1.51
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet (2007) 1.50
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet (2010) 1.50
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet (2009) 1.50
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet (2010) 1.49
Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet (2005) 1.46
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet (2008) 1.45
Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation? J Rheumatol (2003) 1.44
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet (2004) 1.44
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. J Am Soc Nephrol (2002) 1.41
Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci. Am J Hum Genet (2006) 1.41
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
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat (2004) 1.40
Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet (2011) 1.40
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. Proc Natl Acad Sci U S A (2009) 1.39
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol (2011) 1.38
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet (2011) 1.37
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. Am J Hum Genet (2008) 1.35
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet (2013) 1.32
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet (2013) 1.32
A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD). Hepatology (2005) 1.31
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain (2013) 1.29
Determination of SMN1 and SMN2 copy number using TaqMan technology. Hum Mutat (2003) 1.28
Cystinuria: an inborn cause of urolithiasis. Orphanet J Rare Dis (2012) 1.27
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol (2003) 1.26
CLCN2 variants in idiopathic generalized epilepsy. Nat Genet (2009) 1.26
Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals. Neuroimage (2009) 1.25
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Hum Genet (2010) 1.24
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat (2013) 1.23
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet (2010) 1.23