Published in Am J Med Genet A on July 01, 2008
Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet (2012) 1.50
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. Eur J Hum Genet (2009) 0.94
Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathway. Philos Trans R Soc Lond B Biol Sci (2013) 0.92
Distal Xq duplication and functional Xq disomy. Orphanet J Rare Dis (2009) 0.86
A turner syndrome patient carrying a mosaic distal x chromosome marker. Case Rep Genet (2014) 0.76
Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development. PLoS One (2014) 0.76
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
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
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
Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet (2007) 2.23
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet (2011) 2.14
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. Am J Med Genet A (2014) 2.02
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
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol (2013) 1.94
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
Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome. Prenat Diagn (2012) 1.78
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
Quantitation of cellular deoxynucleoside triphosphates. Nucleic Acids Res (2009) 1.70
Leopard syndrome. Orphanet J Rare Dis (2008) 1.69
PARK6-linked parkinsonism occurs in several European families. Ann Neurol (2002) 1.68
Banking together. A unified model of informed consent for biobanking. EMBO Rep (2008) 1.67
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
The deoxynucleotide triphosphohydrolase SAMHD1 is a major regulator of DNA precursor pools in mammalian cells. Proc Natl Acad Sci U S A (2013) 1.61
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
Ribonucleotide reduction is a cytosolic process in mammalian cells independently of DNA damage. Proc Natl Acad Sci U S A (2008) 1.60
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet (2008) 1.59
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
Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome. Am J Med Genet A (2011) 1.54
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 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
p53R2-dependent ribonucleotide reduction provides deoxyribonucleotides in quiescent human fibroblasts in the absence of induced DNA damage. J Biol Chem (2007) 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
Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings. Clin Dysmorphol (2014) 1.43
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet (2011) 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
Regulation by degradation, a cellular defense against deoxyribonucleotide pool imbalances. Mutat Res (2010) 1.39
Origins of mitochondrial thymidine triphosphate: dynamic relations to cytosolic pools. Proc Natl Acad Sci U S A (2003) 1.39
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
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy. J Biol Chem (2006) 1.35
Mitochondrial deoxynucleotide pool sizes in mouse liver and evidence for a transport mechanism for thymidine monophosphate. Proc Natl Acad Sci U S A (2006) 1.34
Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1. Ophthalmology (2011) 1.33
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
Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). J Biol Chem (2005) 1.31
De novo balanced chromosome rearrangements in prenatal diagnosis. Prenat Diagn (2009) 1.29
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
Crystal structure of a human mitochondrial deoxyribonucleotidase. Nat Struct Biol (2002) 1.22
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
Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells. Proc Natl Acad Sci U S A (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