Published in Am J Med Genet A on January 01, 2010
X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression. Mol Cell (2011) 1.29
Essential role of the CUL4B ubiquitin ligase in extra-embryonic tissue development during mouse embryogenesis. Cell Res (2012) 1.12
Pathogenic Role of the CRL4 Ubiquitin Ligase in Human Disease. Front Oncol (2012) 1.08
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. Genome Res (2013) 1.06
Lack of Cul4b, an E3 ubiquitin ligase component, leads to embryonic lethality and abnormal placental development. PLoS One (2012) 1.00
Regulation of histone H3K4 methylation in brain development and disease. Philos Trans R Soc Lond B Biol Sci (2014) 0.94
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. Am J Med Genet A (2014) 0.84
Variants in CUL4B are associated with cerebral malformations. Hum Mutat (2015) 0.82
DNA damage-induced activation of CUL4B targets HUWE1 for proteasomal degradation. Nucleic Acids Res (2015) 0.81
Cullin4A and cullin4B are interchangeable for HIV Vpr and Vpx action through the CRL4 ubiquitin ligase complex. J Virol (2014) 0.80
Distinct and overlapping functions of the cullin E3 ligase scaffolding proteins CUL4A and CUL4B. Gene (2015) 0.79
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. PLoS One (2014) 0.78
Functional significance of the sex chromosomes during spermatogenesis. Reproduction (2015) 0.78
Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection. Hum Genome Var (2017) 0.75
Human X-linked Intellectual Disability Factor CUL4B Is Required for Post-meiotic Sperm Development and Male Fertility. Sci Rep (2016) 0.75
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
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
Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. J Clin Endocrinol Metab (2002) 2.13
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. Am J Med Genet A (2014) 2.02
GAD65 antigen therapy in recently diagnosed type 1 diabetes mellitus. N Engl J Med (2012) 2.01
Whole-genome multiple displacement amplification from single cells. Nat Protoc (2006) 1.88
Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. J Am Coll Cardiol (2011) 1.82
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2009) 1.80
High risk of malignancy in mosaic variegated aneuploidy syndrome. Am J Med Genet (2002) 1.72
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet (2013) 1.70
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int (2008) 1.58
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: multicenter study of 45 French male patients. Ann Endocrinol (Paris) (2012) 1.55
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet (2013) 1.50
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet (2009) 1.45
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet (2008) 1.45
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet (2010) 1.40
Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta. Circ Cardiovasc Genet (2015) 1.38
TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A (2006) 1.25
The Arabidopsis abscisic acid catabolic gene CYP707A2 plays a key role in nitrate control of seed dormancy. Plant Physiol (2008) 1.24
C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet (2013) 1.24
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord (2014) 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
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur J Med Genet (2010) 1.21
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A (2012) 1.21
ATM-mediated transcriptional and developmental responses to gamma-rays in Arabidopsis. PLoS One (2007) 1.20
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg (2005) 1.19
Non-USH2A mutations in USH2 patients. Hum Mutat (2012) 1.17
Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. Breast Cancer Res (2010) 1.14
Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases. Am J Med Genet A (2005) 1.12
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr (2003) 1.11
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat (2010) 1.08
Subtelomeric imbalances in phenotypically normal individuals. Hum Mutat (2007) 1.07
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat (2011) 1.06
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. Hum Mutat (2010) 1.06
Four-year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol Vis Sci (2011) 1.03
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. Eur J Med Genet (2009) 1.02
Arabidopsis NRP1 and NRP2 encode histone chaperones and are required for maintaining postembryonic root growth. Plant Cell (2006) 1.02
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat (2007) 1.01
Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. Am J Med Genet A (2004) 1.01
The regulatory PII protein controls arginine biosynthesis in Arabidopsis. FEBS Lett (2006) 1.01
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. Am J Med Genet A (2009) 1.01
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet A (2011) 1.00
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab (2013) 1.00
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. Eur J Hum Genet (2012) 0.97
Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2. Hum Mutat (2011) 0.96
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat (2006) 0.95
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Am J Med Genet A (2014) 0.94
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet (2013) 0.93
The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling. BMC Biol (2013) 0.93
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. Eur J Hum Genet (2012) 0.92
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. J Med Genet (2013) 0.91
Characterization of the early events leading to totipotency in an Arabidopsis protoplast liquid culture by temporal transcript profiling. Plant Cell (2013) 0.91
Inherited ring chromosome 8 without loss of subtelomeric sequences. Ann Genet (2004) 0.91
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet (2013) 0.90
Hajdu-Cheney syndrome and syringomyelia. Case report. J Neurosurg (2002) 0.90
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. Eur J Med Genet (2011) 0.89
Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth. Am J Med Genet A (2007) 0.89
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol (2010) 0.89
Barth syndrome in a female patient. Mol Genet Metab (2012) 0.88
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. Eur J Hum Genet (2010) 0.88
Congenital heart defects in patients with deletions upstream of SOX9. Hum Mutat (2013) 0.87
A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome. Eur J Med Genet (2008) 0.87
Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome. J Clin Endocrinol Metab (2009) 0.86
5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects. Am J Med Genet A (2011) 0.86
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet (2013) 0.85
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. Eur J Med Genet (2012) 0.85
Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci. Orphanet J Rare Dis (2011) 0.85
Prenatal diagnosis of a 'minor' form of Brachmann-de Lange syndrome by three-dimensional sonography and three-dimensional computed tomography. Fetal Diagn Ther (2004) 0.85
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features. Eur J Med Genet (2012) 0.85