Published in J Med Genet on January 28, 2011
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. Clin Epigenetics (2015) 1.61
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. J Med Genet (2012) 1.04
Altered DNA methylation patterns of the H19 differentially methylated region and the DAZL gene promoter are associated with defective human sperm. PLoS One (2013) 0.84
A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders. Clin Epigenetics (2015) 0.81
lncRNA H19/miR-675 axis regulates cardiomyocyte apoptosis by targeting VDAC1 in diabetic cardiomyopathy. Sci Rep (2016) 0.80
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. Eur J Hum Genet (2015) 0.80
No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome. Eur J Hum Genet (2011) 0.78
A novel large deletion of the ICR1 region including H19 and putative enhancer elements. BMC Med Genet (2015) 0.77
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. Mol Syndromol (2016) 0.75
A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotechnol (2007) 9.90
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med (2004) 8.62
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet (2008) 3.06
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes (2007) 3.00
Elements of morphology: standard terminology for the hands and feet. Am J Med Genet A (2009) 2.44
3D analysis of facial morphology. Am J Med Genet A (2004) 1.95
Transcriptome analysis of grain development in hexaploid wheat. BMC Genomics (2008) 1.92
DNA extraction from dry museum beetles without conferring external morphological damage. PLoS One (2007) 1.85
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet (2007) 1.73
Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet (2005) 1.71
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet (2008) 1.70
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet (2002) 1.65
Anatomical correlates of dyslexia: frontal and cerebellar findings. Brain (2003) 1.64
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet (2008) 1.59
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet (2005) 1.55
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat (2014) 1.53
Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet (2005) 1.52
Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet (2005) 1.46
Amplitude envelope onsets and developmental dyslexia: A new hypothesis. Proc Natl Acad Sci U S A (2002) 1.45
Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet (2013) 1.43
[Mitochondrial diseases. Clinical features, investigation and genetics]. Ugeskr Laeger (2003) 1.40
[The genetics of Gilles de la Tourette syndrome]. Ugeskr Laeger (2012) 1.39
[Genetic epidemiology and cancer]. Ugeskr Laeger (2006) 1.39
New Zealand's shocking diabetes rates can be reduced--9 urgently needed actions. N Z Med J (2011) 1.38
Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. J Clin Endocrinol Metab (2004) 1.38
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur J Hum Genet (2010) 1.37
Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. Hum Genet (2005) 1.36
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet (2007) 1.33
Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet (2005) 1.32
Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet (2002) 1.27
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet (2007) 1.27
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Am J Med Genet A (2013) 1.25
Transient neonatal diabetes mellitus type 1. Am J Med Genet C Semin Med Genet (2010) 1.25
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet (2011) 1.20
Newly diagnosed diabetes mellitus after acute pancreatitis: a systematic review and meta-analysis. Gut (2013) 1.20
Hedgehog signaling in small-cell lung cancer: frequent in vivo but a rare event in vitro. Lung Cancer (2006) 1.18
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. Hum Mutat (2005) 1.13
Clinical expression of Menkes disease in females with normal karyotype. Orphanet J Rare Dis (2012) 1.11
Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. Diabetes Care (2012) 1.10
Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study. Invest Ophthalmol Vis Sci (2009) 1.10
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. Am J Med Genet A (2006) 1.09
An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet (2004) 1.06
Diabetes Text-Message Self-Management Support Program (SMS4BG): A Pilot Study. JMIR Mhealth Uhealth (2015) 1.05
Screening of the ARX gene in 682 retarded males. Eur J Hum Genet (2004) 1.05
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. Hum Mutat (2010) 1.04
Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet (2010) 1.04
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am J Med Genet A (2013) 1.04
Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. BMC Med Genet (2010) 1.04
Yeast complementation reveals a role for an Arabidopsis thaliana late embryogenesis abundant (LEA)-like protein in oxidative stress tolerance. Plant J (2006) 1.03
Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets. Diabetes (2012) 1.02
Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. PLoS One (2013) 1.02
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet (2012) 1.01
Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. Am J Med Genet A (2006) 1.00
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. Eur J Hum Genet (2011) 0.99
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. Hum Mutat (2005) 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
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort. Eur J Hum Genet (2005) 0.98
Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet (2012) 0.98
Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. Am J Med Genet A (2010) 0.98
Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. Eur J Hum Genet (2005) 0.97
Gastric bypass and sleeve gastrectomy for type 2 diabetes: a systematic review and meta-analysis of outcomes. Obes Surg (2013) 0.97
Differential cytopathology and kinetics of measles oncolysis in two primary B-cell malignancies provides mechanistic insights. Mol Ther (2011) 0.96
Vertical integration - Reducing the load on GP teachers. Aust Fam Physician (2009) 0.96
The worldwide association between television viewing and obesity in children and adolescents: cross sectional study. PLoS One (2013) 0.95
A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome. Clin Chem (2007) 0.95
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. Eur J Hum Genet (2005) 0.94
Non-disjunction of chromosome 13. Hum Mol Genet (2007) 0.94
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis (2013) 0.93
Evaluation of NSD2 and NSD3 in overgrowth syndromes. Eur J Hum Genet (2005) 0.93
Splice site mutations in the ATP7A gene. PLoS One (2011) 0.93
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. Eur J Hum Genet (2008) 0.92
Effects of prior attention training on child dyslexics' response to composition instruction. Dev Neuropsychol (2006) 0.92
A nonsense mutation in FMR1 causing fragile X syndrome. Eur J Hum Genet (2011) 0.92
A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size. Eur J Hum Genet (2004) 0.90
Deficits in beat perception and dyslexia: evidence from French. Neuroreport (2004) 0.89
High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat (2011) 0.89
Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting. Am J Med Genet A (2010) 0.89
An atypical case of hypomethylation at multiple imprinted loci. Eur J Hum Genet (2011) 0.89
Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood. Pediatr Diabetes (2007) 0.89