Published in Eur J Hum Genet on June 30, 2010
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet (2014) 3.21
Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med (2012) 2.86
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am J Hum Genet (2014) 2.18
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet (2013) 1.76
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet (2011) 1.43
Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader-Willi syndrome. Nat Med (2016) 1.39
R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation. Proc Natl Acad Sci U S A (2013) 1.23
Processing of snoRNAs as a new source of regulatory non-coding RNAs: snoRNA fragments form a new class of functional RNAs. Bioessays (2012) 1.22
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res (2013) 1.21
A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure. Hum Mol Genet (2013) 1.19
Massive-scale RNA-Seq analysis of non ribosomal transcriptome in human trisomy 21. PLoS One (2011) 1.15
Small regulatory RNAs controlled by genomic imprinting and their contribution to human disease. Epigenetics (2012) 1.10
Long noncoding RNAs: Re-writing dogmas of RNA processing and stability. Biochim Biophys Acta (2015) 1.08
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur J Hum Genet (2011) 1.07
Integrating the roles of long and small non-coding RNA in brain function and disease. Mol Psychiatry (2014) 1.04
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases. Neurogenetics (2012) 1.04
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J Hum Genet (2012) 1.03
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat (2011) 1.01
Direct cloning of double-stranded RNAs from RNase protection analysis reveals processing patterns of C/D box snoRNAs and provides evidence for widespread antisense transcript expression. Nucleic Acids Res (2011) 1.01
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes. Eur J Hum Genet (2011) 1.00
From discovery to function: the expanding roles of long noncoding RNAs in physiology and disease. Endocr Rev (2014) 0.98
The SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters at the imprinted Prader-Willi locus generate canonical box C/D snoRNAs. Nucleic Acids Res (2012) 0.97
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome. Eur J Hum Genet (2014) 0.95
Long non-coding RNAs in neurodevelopmental disorders. Front Mol Neurosci (2013) 0.95
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate. Am J Med Genet A (2011) 0.94
Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes. Pediatr Clin North Am (2015) 0.94
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. Hum Mutat (2013) 0.94
Species-specific alternative splicing leads to unique expression of sno-lncRNAs. BMC Genomics (2014) 0.93
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat (2012) 0.93
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. Am J Med Genet A (2011) 0.92
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly. Mol Syndromol (2013) 0.91
Hypothalamic expression of snoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader-Willi syndrome. Int J Dev Neurosci (2012) 0.91
Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome. Genet Mol Biol (2011) 0.90
Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion. Hum Mol Genet (2013) 0.90
Clinical phenotypes of MAGEL2 mutations and deletions. Orphanet J Rare Dis (2014) 0.89
Epigenetics, autism spectrum, and neurodevelopmental disorders. Neurotherapeutics (2013) 0.89
Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination. BMC Biol (2014) 0.87
Exposure of Human Prostaspheres to Bisphenol A Epigenetically Regulates SNORD Family Noncoding RNAs via Histone Modification. Endocrinology (2015) 0.85
Regulatory role of small nucleolar RNAs in human diseases. Biomed Res Int (2015) 0.85
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet (2013) 0.85
The neurobiology of mouse models syntenic to human chromosome 15q. J Neurodev Disord (2011) 0.85
Dual function of C/D box small nucleolar RNAs in rRNA modification and alternative pre-mRNA splicing. Proc Natl Acad Sci U S A (2016) 0.84
Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease. Mol Cytogenet (2013) 0.84
Snord116 is critical in the regulation of food intake and body weight. Sci Rep (2016) 0.84
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability. Hum Genet (2013) 0.83
Necdin protects embryonic motoneurons from programmed cell death. PLoS One (2011) 0.83
An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice. PLoS One (2012) 0.83
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One (2014) 0.83
Pyrvinium pamoate changes alternative splicing of the serotonin receptor 2C by influencing its RNA structure. Nucleic Acids Res (2013) 0.82
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. Eur J Hum Genet (2015) 0.81
A novel rearrangement of occludin causes brain calcification and renal dysfunction. Hum Genet (2013) 0.81
Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome. Sleep (2016) 0.81
An interval of the obesity QTL Nob3.38 within a QTL hotspot on chromosome 1 modulates behavioral phenotypes. PLoS One (2013) 0.81
Long noncoding RNAs in imprinting and X chromosome inactivation. Biomolecules (2014) 0.81
Molecular characterization of a patient presumed to have prader-willi syndrome. Clin Med Insights Case Rep (2013) 0.80
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Arch Gen Psychiatry (2012) 0.80
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. J Clin Invest (2016) 0.79
Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches. J Obes (2012) 0.79
Maternal transcription of non-protein coding RNAs from the PWS-critical region rescues growth retardation in mice. Sci Rep (2016) 0.78
Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia. Fertil Steril (2014) 0.78
Apo-Ghrelin Receptor (apo-GHSR1a) Regulates Dopamine Signaling in the Brain. Front Endocrinol (Lausanne) (2014) 0.78
Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders. Front Genet (2012) 0.78
A vast genomic deletion in the C56BL/6 genome affects different genes within the Ifi200 cluster on chromosome 1 and mediates obesity and insulin resistance. BMC Genomics (2017) 0.77
Oligonucleotide-induced alternative splicing of serotonin 2C receptor reduces food intake. EMBO Mol Med (2016) 0.77
Rapid birth-and-death evolution of imprinted snoRNAs in the Prader-Willi syndrome locus: implications for neural development in Euarchontoglires. PLoS One (2014) 0.77
Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects--a meta analysis. PLoS One (2013) 0.77
6q22.1 microdeletion and susceptibility to pediatric epilepsy. Eur J Hum Genet (2014) 0.77
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. Mol Cytogenet (2014) 0.76
Noncoding RNAs in endocrine malignancy. Oncologist (2014) 0.76
Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain. Mol Syndromol (2012) 0.75
Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies. J Pediatr Genet (2016) 0.75
Splicing noncoding RNAs from the inside out. Wiley Interdiscip Rev RNA (2015) 0.75
Serum snoRNAs as biomarkers for joint ageing and post traumatic osteoarthritis. Sci Rep (2017) 0.75
Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome? J Clin Invest (2016) 0.75
Adult-onset deletion of the Prader-Willi syndrome susceptibility gene Snord116 in mice results in reduced feeding and increased fat mass. Transl Pediatr (2017) 0.75
Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR. Dis Markers (2014) 0.75
The dilemma of diagnostic testing for Prader-Willi syndrome. Transl Pediatr (2017) 0.75
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. Mol Syndromol (2011) 0.75
Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease. Biol Open (2014) 0.75
A Comprehensive Guide to the MAGE Family of Ubiquitin Ligases. J Mol Biol (2017) 0.75
Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly. Mol Syndromol (2012) 0.75
Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome. Ann Pediatr Endocrinol Metab (2016) 0.75
On the spot: very local chromosomal rearrangements. F1000 Biol Rep (2012) 0.75
High expression of miR-125b-2 and SNORD116 noncoding RNA clusters characterize ERG-related B cell precursor acute lymphoblastic leukemia. Oncotarget (2017) 0.75
Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. Diseases (2016) 0.75
Small nucleolar RNAs: an abundant group of noncoding RNAs with diverse cellular functions. Cell (2002) 6.62
Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics (1993) 4.86
The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science (2005) 4.54
Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc Natl Acad Sci U S A (2000) 4.54
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet (2008) 4.10
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Hum Mol Genet (2001) 3.07
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet (1997) 2.77
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics (2001) 2.37
SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS One (2008) 2.27
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet (2009) 1.95
Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation. PLoS Genet (2007) 1.82
Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain. Am J Hum Genet (2000) 1.80
Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Genome Biol (2007) 1.76
Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Hum Mol Genet (1996) 1.70
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum Genet (2004) 1.60
Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. Am J Hum Genet (2002) 1.57
Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nat Genet (1996) 1.53
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet (2007) 1.52
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome. BMC Med Genet (2005) 1.45
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. Hum Mol Genet (2001) 1.44
Prader-Willi syndrome is caused by disruption of the SNRPN gene. Am J Hum Genet (1999) 1.36
Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome. Am J Hum Genet (1997) 1.33
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report. Mol Cytogenet (2009) 1.30
Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size. Hum Mol Genet (2009) 1.21
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet (2008) 4.10
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med (2012) 2.86
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet (2003) 2.59
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 2.57
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
Increased LIS1 expression affects human and mouse brain development. Nat Genet (2009) 2.45
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A (2005) 2.44
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell (2012) 2.43
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr (2006) 2.41
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A (2009) 2.36
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet (2005) 2.05
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med (2007) 1.98
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res (2002) 1.91
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Am J Med Genet C Semin Med Genet (2007) 1.91
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet (2002) 1.88
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A (2007) 1.85
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med (2007) 1.84
Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest (2013) 1.83
Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A (2006) 1.83
Application of array-based comparative genomic hybridization to clinical diagnostics. J Mol Diagn (2006) 1.79
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A (2004) 1.79
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med (2012) 1.67
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat (2010) 1.66
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet Med (2010) 1.64
Monosomy 1p36 deletion syndrome. Am J Med Genet C Semin Med Genet (2007) 1.63
Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Res (2003) 1.62
Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet (2011) 1.60
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH. Genet Med (2009) 1.55
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. PLoS One (2009) 1.54
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn (2012) 1.54
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Eur J Hum Genet (2009) 1.53
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord (2010) 1.51
Expanding the phenotype of alveolar capillary dysplasia (ACD). J Pediatr (2004) 1.51
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A (2008) 1.51
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. Genet Med (2012) 1.49
Williams syndrome in a preterm infant with phenotype of Alagille syndrome. Am J Med Genet A (2008) 1.49
Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol (2005) 1.46
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Res (2011) 1.45
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet (2011) 1.43
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet (2003) 1.42
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn (2008) 1.41