Published in Am J Med Genet C Semin Med Genet on August 15, 2010
Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome Res (2014) 1.64
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. Clin Epigenetics (2015) 1.61
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Res (2011) 1.45
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. Clin Epigenetics (2016) 1.41
A mutation screen in patients with Kabuki syndrome. Hum Genet (2011) 1.36
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. Hum Mol Genet (2011) 1.17
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites. Hum Mol Genet (2012) 1.16
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. Diabetes Care (2012) 1.10
The role and interaction of imprinted genes in human fetal growth. Philos Trans R Soc Lond B Biol Sci (2015) 1.04
The increasing complexity of the oncofetal h19 gene locus: functional dissection and therapeutic intervention. Int J Mol Sci (2013) 1.03
Modeling familial cancer with induced pluripotent stem cells. Cell (2015) 1.02
The role of imprinted genes in fetal growth abnormalities. Birth Defects Res A Clin Mol Teratol (2011) 1.00
The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility. ILAR J (2012) 0.99
Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes. J Med Genet (2014) 0.98
Associations between paternally transmitted fetal IGF2 variants and maternal circulating glucose concentrations in pregnancy. Diabetes (2011) 0.94
Gain of function in CDKN1C. Nat Genet (2012) 0.92
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. Epigenetics (2013) 0.90
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. PLoS One (2012) 0.89
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. J Med Genet (2015) 0.88
Large offspring syndrome: a bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann. Epigenetics (2013) 0.88
Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma. BMC Cancer (2013) 0.87
Pancreatic surgery in infants with Beckwith-Wiedemann syndrome and hyperinsulinism. J Pediatr Surg (2013) 0.87
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome. Pediatr Nephrol (2011) 0.86
Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. Eur J Hum Genet (2013) 0.86
Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene. Appl Clin Genet (2014) 0.86
Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care. Clin Epigenetics (2015) 0.86
The role of ultrasound in the diagnosis of fetal genetic syndromes. Best Pract Res Clin Obstet Gynaecol (2014) 0.85
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. Eur J Hum Genet (2015) 0.85
Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction. J Med Genet (2012) 0.84
Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7. Epigenetics (2013) 0.84
Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region. Hum Mol Genet (2014) 0.84
Atypical face shape and genomic structural variants in epilepsy. Brain (2012) 0.84
Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine. J Biomed Sci (2012) 0.83
The role of long non-coding RNAs in genome formatting and expression. Front Genet (2015) 0.83
Long noncoding RNA: significance and potential in skin biology. Cold Spring Harb Perspect Med (2014) 0.83
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour. Eur J Hum Genet (2012) 0.83
Evidence for anticipation in Beckwith-Wiedemann syndrome. Eur J Hum Genet (2013) 0.82
The health risks of ART. EMBO Rep (2013) 0.82
Dysregulation of genome-wide gene expression and DNA methylation in abnormal cloned piglets. BMC Genomics (2014) 0.82
Allele-specific gene expression and epigenetic modifications and their application to understanding inheritance and cancer. Biochim Biophys Acta (2012) 0.80
Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major. Haematologica (2012) 0.80
Differences and similarities in the transcriptional profile of peripheral whole blood in early and late-onset preeclampsia: insights into the molecular basis of the phenotype of preeclampsiaa. J Perinat Med (2013) 0.80
Development of adrenal cortex zonation. Endocrinol Metab Clin North Am (2015) 0.80
Dnmt3a Regulates Proliferation of Muscle Satellite Cells via p57Kip2. PLoS Genet (2016) 0.79
Frequency and characterization of DNA methylation defects in children born SGA. Eur J Hum Genet (2012) 0.79
New developments in Silver-Russell syndrome and implications for clinical practice. Epigenomics (2016) 0.79
Association between long non-coding RNA and human rare diseases (Review). Biomed Rep (2013) 0.78
Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome. Transl Psychiatry (2012) 0.78
No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome. Eur J Hum Genet (2011) 0.78
Igf2-H19, an Imprinted Tandem Yin-Yanggene and its Emerging Role in Development, Proliferation of Pluripotent Stem Cells, Senescence and Cancerogenesis. J Stem Cell Res Ther (2012) 0.77
Partial Loss of Genomic Imprinting Reveals Important Roles for Kcnq1 and Peg10 Imprinted Domains in Placental Development. PLoS One (2015) 0.77
Lhx6 and Lhx8 promote palate development through negative regulation of a cell cycle inhibitor gene, p57Kip2. Hum Mol Genet (2015) 0.77
A novel large deletion of the ICR1 region including H19 and putative enhancer elements. BMC Med Genet (2015) 0.77
The H19 imprinting control region mediates preimplantation imprinted methylation of nearby sequences in yeast artificial chromosome transgenic mice. Mol Cell Biol (2012) 0.77
Genetic syndromes associated with overgrowth in childhood. Ann Pediatr Endocrinol Metab (2013) 0.77
Genomic imprinting effects on complex traits in domesticated animal species. Front Genet (2015) 0.77
Association of diabetes and cancer mortality in American Indians: the Strong Heart Study. Cancer Causes Control (2015) 0.76
Interplay between PREX2 mutations and the PI3K pathway and its effect on epigenetic regulation of gene expression in NRAS-mutant melanoma. Small GTPases (2016) 0.75
Cystic fibrosis and beckwith-wiedemann syndrome: a case report. J Clin Med Res (2014) 0.75
Refractory postsurgical pyoderma gangrenosum in a patient with Beckwith Wiedemann syndrome: response to multimodal therapy. BMJ Case Rep (2013) 0.75
Persistent salmon patch on the forehead and glabellum in a chinese adult. Case Rep Med (2014) 0.75
An Update on Molecular Diagnostic Testing of Human Imprinting Disorders. J Pediatr Genet (2016) 0.75
Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith-Wiedemann syndrome as a sporadic adrenocortical tumor. Appl Transl Genom (2014) 0.75
A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome. Eur J Hum Genet (2016) 0.75
Epigenetic Dysregulation Observed in Monosomy Blastocysts Further Compromises Developmental Potential. PLoS One (2016) 0.75
Genome-wide microRNA expression profiling in placentae from frozen-thawed blastocyst transfer. Clin Epigenetics (2017) 0.75
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray. Epigenetics (2013) 4.61
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A (2005) 3.13
The schizophrenia phenotype in 22q11 deletion syndrome. Am J Psychiatry (2003) 3.04
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Beckwith-Wiedemann syndrome. Eur J Hum Genet (2010) 2.85
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study. Lancet Oncol (2013) 2.34
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet (2002) 2.33
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet (2009) 2.27
Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray. Genomics (2011) 2.19
Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet (2005) 1.89
Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum Mol Genet (2011) 1.87
Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes Dev (2013) 1.70
Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome. Biol Psychiatry (2007) 1.63
SHANK1 Deletions in Males with Autism Spectrum Disorder. Am J Hum Genet (2012) 1.59
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet (2009) 1.58
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat (2007) 1.56
Nephron sparing surgery for unilateral Wilms tumor in children with predisposing syndromes: single center experience over 10 years. J Urol (2012) 1.52
Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae. Dev Biol (2008) 1.51
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Res (2011) 1.45
Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility. Fertil Steril (2007) 1.42
Genetic education for primary care providers: improving attitudes, knowledge, and confidence. Can Fam Physician (2009) 1.40
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet (2011) 1.35
Whole genome scanning: resolving clinical diagnosis and management amidst complex data. Pediatr Res (2009) 1.29
Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet (2002) 1.26
Autism spectrum disorders and epigenetics. J Am Acad Child Adolesc Psychiatry (2010) 1.26
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. Am J Hum Genet (2012) 1.22
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome. Hum Mol Genet (2011) 1.22
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. Am J Med Genet A (2006) 1.21
Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5. Hum Mol Genet (2003) 1.20
Molecular findings in Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet (2013) 1.16
Cell specific patterns of methylation in the human placenta. Epigenetics (2011) 1.12
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features. Am J Med Genet A (2011) 1.07
Predictors and mediators of psychological adjustment in mothers of children newly diagnosed with cancer. Psychooncology (2004) 1.05
Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gastroenterology (2004) 1.05
Basic concepts of epigenetics. Fertil Steril (2013) 1.05
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Am J Med Genet A (2007) 1.03
Growth regulation, imprinted genes, and chromosome 11p15.5. Pediatr Res (2007) 1.02
Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy. Am J Med Genet A (2005) 1.01
Severe intellectual disability and autistic features associated with microduplication 2q23.1. Eur J Hum Genet (2011) 0.98
Assessment of methylation level prediction accuracy in methyl-DNA immunoprecipitation and sodium bisulfite based microarray platforms. Epigenetics (2011) 0.97
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome. Hum Genet (2013) 0.95
Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy. J Am Soc Nephrol (2002) 0.95
Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome. J Biol Chem (2010) 0.95
Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Am J Med Genet A (2012) 0.93
Detecting rearrangements in children using subtelomeric FISH and SKY. Am J Med Genet (2002) 0.93
22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness. J Genet Couns (2012) 0.93
Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. Hum Mol Genet (2002) 0.92
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. BMC Med Genomics (2013) 0.92
Parents' perspectives on participating in genetic research in autism. J Autism Dev Disord (2013) 0.91
Male sex bias in placental dysfunction. Am J Med Genet A (2012) 0.90
Hypercalciuria in Beckwith-Wiedemann syndrome. J Pediatr (2003) 0.90
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Am J Med Genet A (2012) 0.90
Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care. Am J Med Genet A (2008) 0.90
Interactive genetic counseling role-play: a novel educational strategy for family physicians. J Genet Couns (2008) 0.89
Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15. Am J Med Genet A (2007) 0.89
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics (2002) 0.89
Cross-reactive DNA microarray probes lead to false discovery of autosomal sex-associated DNA methylation. Am J Hum Genet (2012) 0.88
Molecular mechanisms of childhood overgrowth. Am J Med Genet C Semin Med Genet (2013) 0.87
WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate. Epigenetics (2011) 0.87
Schizophrenia and genetics: new insights. Curr Psychiatry Rep (2002) 0.86
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. Am J Med Genet A (2009) 0.86
Breast and ovarian cancer: the forgotten paternal contribution. J Genet Couns (2011) 0.85
Detailed analysis of the methylation patterns of the KvDMR1 imprinting control region of human chromosome 11. Genomics (2006) 0.83
Biological and biochemical modulation of DNA methylation. Epigenomics (2014) 0.83
CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer. Am J Med Genet A (2004) 0.83
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. Eur J Med Genet (2011) 0.82
The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients. Eur J Cancer (2013) 0.82
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues. Am J Med Genet A (2012) 0.82
The health risks of ART. EMBO Rep (2013) 0.82
The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5. Genomics (2004) 0.81
Growth hormone deficiency in Costello syndrome. Am J Med Genet A (2004) 0.81
Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome. Curr Opin Pediatr (2005) 0.81
Breast and ovarian cancer: Y do we forget about dad? Lancet Oncol (2010) 0.81
Examining risk perception among men with a family history of prostate cancer. Patient Educ Couns (2011) 0.81
C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome. Pediatr Radiol (2008) 0.80
Inhibition of glycogen synthase kinase-3 enhances the differentiation and reduces the proliferation of adult human olfactory epithelium neural precursors. Exp Cell Res (2011) 0.80
Sonographic assessment of renal growth in patients with Beckwith-Wiedemann syndrome: the Beckwith-Wiedemann syndrome renal nomogram. Clinics (Sao Paulo) (2009) 0.80
Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation. Am J Med Genet A (2012) 0.79
TGF-β/β2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. J Clin Invest (2016) 0.78