Published in J Pediatr on February 01, 2003
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Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A (2005) 3.13
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Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
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Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet (2002) 2.33
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GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis. Development (2006) 1.76
Canonical WNT/beta-catenin signaling is required for ureteric branching. Dev Biol (2008) 1.75
Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes Dev (2013) 1.70
Vesicoureteral reflux in infants with isolated antenatal hydronephrosis. Pediatr Nephrol (2003) 1.69
Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome. Biol Psychiatry (2007) 1.63
Polycystin-1 C-terminal tail associates with beta-catenin and inhibits canonical Wnt signaling. Hum Mol Genet (2008) 1.62
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
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Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae. Dev Biol (2008) 1.51
Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. Hum Mol Genet (2009) 1.49
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Res (2011) 1.45
Outcome of isolated antenatal hydronephrosis: a systematic review and meta-analysis. Pediatr Nephrol (2005) 1.43
Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility. Fertil Steril (2007) 1.42
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Smad1, beta-catenin and Tcf4 associate in a molecular complex with the Myc promoter in dysplastic renal tissue and cooperate to control Myc transcription. Development (2004) 1.36
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet (2011) 1.35
Tubulointerstitial nephritis as an extraintestinal manifestation of Crohn's disease. Nat Clin Pract Nephrol (2008) 1.32
Cell and molecular biology of kidney development. Semin Nephrol (2009) 1.32
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
Shh controls epithelial proliferation via independent pathways that converge on N-Myc. Dev Cell (2005) 1.24
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
BMP receptor ALK3 controls collecting system development. J Am Soc Nephrol (2008) 1.14
Cell specific patterns of methylation in the human placenta. Epigenetics (2011) 1.12
Performance of a career development and compensation program at an academic health science center. Pediatrics (2007) 1.11
p38MAPK acts in the BMP7-dependent stimulatory pathway during epithelial cell morphogenesis and is regulated by Smad1. J Biol Chem (2004) 1.09
GLI3 repressor controls nephron number via regulation of Wnt11 and Ret in ureteric tip cells. PLoS One (2009) 1.09
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
GLI3 repressor controls functional development of the mouse ureter. J Clin Invest (2011) 1.05
Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gastroenterology (2004) 1.05
Elevated SMAD1/beta-catenin molecular complexes and renal medullary cystic dysplasia in ALK3 transgenic mice. Development (2003) 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
Integrin-linked kinase mediates bone morphogenetic protein 7-dependent renal epithelial cell morphogenesis. Mol Cell Biol (2005) 1.02
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
Control of murine kidney development by sonic hedgehog and its GLI effectors. Cell Cycle (2006) 1.01
Neonatal renal venous thrombosis: clinical outcomes and prevalence of prothrombotic disorders. J Pediatr (2005) 1.00
Bone morphogenetic protein signaling in the developing kidney: present and future. Differentiation (2008) 0.99
The molecular control of renal branching morphogenesis: current knowledge and emerging insights. Differentiation (2002) 0.99
Severe intellectual disability and autistic features associated with microduplication 2q23.1. Eur J Hum Genet (2011) 0.98
Genetics of renal hypoplasia: insights into the mechanisms controlling nephron endowment. Pediatr Res (2010) 0.98
Assessment of methylation level prediction accuracy in methyl-DNA immunoprecipitation and sodium bisulfite based microarray platforms. Epigenetics (2011) 0.97
Defects in ciliary localization of Nek8 is associated with cystogenesis. Pediatr Nephrol (2008) 0.96
Glypican-3 modulates inhibitory Bmp2-Smad signaling to control renal development in vivo. Mech Dev (2005) 0.96
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
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. J Med Genet (2013) 0.94
Hepatocyte growth factor-mediated renal epithelial branching morphogenesis is regulated by glypican-4 expression. Mol Cell Biol (2004) 0.94
Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Am J Med Genet A (2012) 0.93
Integrin-linked kinase regulates p38 MAPK-dependent cell cycle arrest in ureteric bud development. Development (2010) 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
Stimulatory and inhibitory signaling molecules that regulate renal branching morphogenesis. Pediatr Nephrol (2008) 0.93
Alk3 controls nephron number and androgen production via lineage-specific effects in intermediate mesoderm. Development (2011) 0.92
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
Control of mammalian kidney development by the Hedgehog signaling pathway. Pediatr Nephrol (2010) 0.90
Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care. Am J Med Genet A (2008) 0.90
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Am J Med Genet A (2012) 0.90
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics (2002) 0.89