Genotypes and phenotypes of Joubert syndrome and related disorders.

Phosphoinositides: tiny lipids with giant impact on cell regulation. Physiol Rev (2013) 3.21

Joubert Syndrome and related disorders. Orphanet J Rare Dis (2010) 3.10

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83

Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet (2009) 1.66

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet (2012) 1.54

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat (2010) 1.32

TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29

Disease gene characterization through large-scale co-expression analysis. PLoS One (2009) 1.15

The dynamic cilium in human diseases. Pathogenetics (2009) 1.13

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Am J Hum Genet (2009) 1.09

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? Hum Mutat (2009) 1.03

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet (2008) 1.03

Inherited cerebrorenal syndromes. Nat Rev Nephrol (2009) 1.00

Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet (2013) 0.98

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet (2015) 0.90

Joubert syndrome: Clinical and radiological characteristics of nine patients. Ann Indian Acad Neurol (2013) 0.89

Clinical utility gene card for: Joubert syndrome--update 2013. Eur J Hum Genet (2013) 0.89

Joubert syndrome: report of 11 cases. Turk J Pediatr (2013) 0.87

Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A (2009) 0.85

Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome. PLoS One (2012) 0.83

Joubert syndrome: genotyping a Northern European patient cohort. Eur J Hum Genet (2015) 0.83

Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var (2014) 0.77

Phosphatidylinositolphosphate phosphatase activities and cancer. J Lipid Res (2015) 0.76

Sporadic familial ulnar hexadactyly of all four limbs. J Dermatol Case Rep (2010) 0.75

Joubert syndrome: the molar tooth sign of the mid-brain. Ann Med Health Sci Res (2013) 0.75

Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome. Austin J Clin Ophthalmol (2015) 0.75

Joubert syndrome in a neonate: case report with literature review. Sudan J Paediatr (2016) 0.75

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report. J Med Case Rep (2015) 0.75

Clinical utility gene card for: Joubert syndrome. Eur J Hum Genet (2011) 0.75

A neonate with Joubert syndrome presenting with symptoms of Horner syndrome. Korean J Pediatr (2016) 0.75

Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing. Med Sci Monit (2017) 0.75

Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II). J Clin Med Res (2015) 0.75

Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging. J Turk Ger Gynecol Assoc (2012) 0.75

MRI with fibre tracking in Cogan congenital oculomotor apraxia. Pediatr Radiol (2010) 0.75

Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet (2006) 4.68

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97

Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet (2005) 3.76

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47

Joubert Syndrome and related disorders. Orphanet J Rare Dis (2010) 3.10

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90

Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease. Hepatology (2015) 2.81

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci (2007) 2.69

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet (2008) 2.65

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet (2002) 2.46

Genetic susceptibility to nonsteroidal anti-inflammatory drug-related gastroduodenal bleeding: role of cytochrome P450 2C9 polymorphisms. Gastroenterology (2007) 2.32

PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol (2004) 2.30

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet (2011) 2.14

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00

Can modern biology interpret the mystery of the birth of Christ? J Matern Fetal Neonatal Med (2014) 1.98

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89

Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet (2007) 1.86

Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain. J Neurosci (2006) 1.85

Multidimensional Prognostic Index based on a comprehensive geriatric assessment predicts short-term mortality in older patients with heart failure. Circ Heart Fail (2009) 1.83

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics (2008) 1.80

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet (2006) 1.78

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (2012) 1.74

A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71

Leopard syndrome. Orphanet J Rare Dis (2008) 1.69

PARK6-linked parkinsonism occurs in several European families. Ann Neurol (2002) 1.68

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet (2011) 1.64

Recurrent triploidy of maternal origin. Eur J Hum Genet (2003) 1.62

Development and validation of a multidimensional prognostic index for one-year mortality from comprehensive geriatric assessment in hospitalized older patients. Rejuvenation Res (2008) 1.60

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11. Hum Genet (2002) 1.57

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Am J Med Genet A (2005) 1.57

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat (2007) 1.56

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet (2012) 1.54

Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 1.54

Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome. Am J Med Genet A (2011) 1.54

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet (2005) 1.53

Association of deletion 22 and trisomy 21: a likely random association in patients with conotruncal heart defects. Am J Med Genet A (2005) 1.52

Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. J Neurochem (2009) 1.52

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat (2009) 1.49

Deletion 22q11 and isolated congenital heart disease. Int J Cardiol (2007) 1.49

The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy. Diabetes (2005) 1.49

Erythrocyte-mediated delivery of dexamethasone in patients with mild-to-moderate ulcerative colitis, refractory to mesalamine: a randomized, controlled study. Am J Gastroenterol (2008) 1.47

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? Eur J Hum Genet (2009) 1.46

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet (2011) 1.43

Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings. Clin Dysmorphol (2014) 1.43

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43

Changes in CpG islands promoter methylation patterns during ductal breast carcinoma progression. Cancer Epidemiol Biomarkers Prev (2009) 1.43

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40

Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet A (2008) 1.40

Atrioventricular canal defect in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536. Genet Med (2006) 1.38

LEOPARD syndrome: clinical diagnosis in the first year of life. Am J Med Genet A (2006) 1.37

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. Orphanet J Rare Dis (2011) 1.32

The TRIB3 Q84R polymorphism and risk of early-onset type 2 diabetes. J Clin Endocrinol Metab (2008) 1.32

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat (2010) 1.32

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Am J Cardiol (2007) 1.29

Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF. Genes Chromosomes Cancer (2008) 1.25

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. Eur J Hum Genet (2009) 1.22

Costello syndrome: clinical diagnosis in the first year of life. Eur J Pediatr (2007) 1.21

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. Eur J Med Genet (2012) 1.21

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis (2009) 1.20

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development. Eur J Hum Genet (2008) 1.19

KBG syndrome in a cohort of Italian patients. Am J Med Genet A (2004) 1.18

Genetically determined interaction between the dopamine transporter and the D2 receptor on prefronto-striatal activity and volume in humans. J Neurosci (2009) 1.18

Joubert syndrome and related disorders. Handb Clin Neurol (2013) 1.17

RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A. Neoplasia (2008) 1.17

The Multidimensional Prognostic Index (MPI), based on a comprehensive geriatric assessment predicts short- and long-term mortality in hospitalized older patients with dementia. J Alzheimers Dis (2009) 1.16

Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart (2009) 1.16

The multidimensional prognostic index predicts short- and long-term mortality in hospitalized geriatric patients with pneumonia. J Gerontol A Biol Sci Med Sci (2009) 1.15

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet J Rare Dis (2012) 1.15

Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia. Hum Mutat (2004) 1.14

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet (2012) 1.13

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Hum Mutat (2011) 1.12

Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. J Pathol (2009) 1.11

Mutation screening of the DYT6/THAP1 gene in Italy. Mov Disord (2009) 1.11

PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype". Eur J Pediatr (2006) 1.11

Guidelines for the appropriate use of genetic tests in infertile couples. Eur J Hum Genet (2002) 1.09

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. Am J Med Genet A (2011) 1.08