Published in Science on April 08, 2011
Frequent pathway mutations of splicing machinery in myelodysplasia. Nature (2011) 11.44
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
The spliceosome as a target of novel antitumour drugs. Nat Rev Drug Discov (2012) 2.51
Pre-mRNA splicing in disease and therapeutics. Trends Mol Med (2012) 2.23
Modeling human disease in humans: the ciliopathies. Cell (2011) 1.60
Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev (2011) 1.56
RNA mis-splicing in disease. Nat Rev Genet (2015) 1.41
The significant other: splicing by the minor spliceosome. Wiley Interdiscip Rev RNA (2012) 1.40
Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet (2017) 1.39
New connections between splicing and human disease. Trends Genet (2012) 1.39
Identity by descent: variation in meiosis, across genomes, and in populations. Genetics (2013) 1.37
Inferring coancestry in population samples in the presence of linkage disequilibrium. Genetics (2012) 1.32
Differentially expressed, variant U1 snRNAs regulate gene expression in human cells. Genome Res (2012) 1.02
A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects. Cell Rep (2012) 1.01
Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration. Cell (2012) 1.00
The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches. EMBO Rep (2015) 0.99
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet (2011) 0.98
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. Hum Mol Genet (2013) 0.98
Mutations in the NHEJ component XRCC4 cause primordial dwarfism. Am J Hum Genet (2015) 0.97
Minor introns are embedded molecular switches regulated by highly unstable U6atac snRNA. Elife (2013) 0.94
Non-polyadenylated transcription in embryonic stem cells reveals novel non-coding RNA related to pluripotency and differentiation. Nucleic Acids Res (2013) 0.94
Quality control of assembly-defective U1 snRNAs by decapping and 5'-to-3' exonucleolytic digestion. Proc Natl Acad Sci U S A (2014) 0.93
Functional roles of alternative splicing factors in human disease. Wiley Interdiscip Rev RNA (2015) 0.92
Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. Nat Commun (2015) 0.92
Genetic evaluation of short stature. J Clin Endocrinol Metab (2014) 0.90
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. EMBO Mol Med (2014) 0.89
Minor class splicing shapes the zebrafish transcriptome during development. Proc Natl Acad Sci U S A (2014) 0.89
Lessons from non-canonical splicing. Nat Rev Genet (2016) 0.88
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I. RNA (2014) 0.88
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. Nat Commun (2015) 0.85
Global analysis of the nuclear processing of transcripts with unspliced U12-type introns by the exosome. Nucleic Acids Res (2014) 0.84
Genetics. Minor splicing, disrupted. Science (2011) 0.82
Regulation of gene expression through inefficient splicing of U12-type introns. RNA Biol (2014) 0.80
The minor spliceosomal protein U11/U12-31K is an RNA chaperone crucial for U12 intron splicing and the development of dicot and monocot plants. PLoS One (2012) 0.79
Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa. PLoS One (2014) 0.78
A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing. BMC Res Notes (2014) 0.78
Primordial dwarfism: overview of clinical and genetic aspects. Mol Genet Genomics (2015) 0.78
Evolutionarily conserved exon definition interactions with U11 snRNP mediate alternative splicing regulation on U11-48K and U11/U12-65K genes. RNA Biol (2015) 0.77
Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes. Trends Mol Med (2016) 0.76
Variant U1 snRNAs are implicated in human pluripotent stem cell maintenance and neuromuscular disease. Nucleic Acids Res (2016) 0.76
LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice. PLoS Genet (2015) 0.76
The 7SK snRNP associates with the little elongation complex to promote snRNA gene expression. EMBO J (2017) 0.75
Targeting Splicing in the Treatment of Human Disease. Genes (Basel) (2017) 0.75
Aberrant splicing in maize rough endosperm3 reveals a conserved role for U12 splicing in eukaryotic multicellular development. Proc Natl Acad Sci U S A (2017) 0.75
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. Clin Dysmorphol (2016) 0.75
Export of microRNAs: A Bridge between Breast Carcinoma and Their Neighboring Cells. Front Oncol (2016) 0.75
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. Curr Osteoporos Rep (2017) 0.75
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet (2007) 9.88
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet (2009) 9.45
Runs of homozygosity in European populations. Am J Hum Genet (2008) 5.34
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Estimation of the inbreeding coefficient through use of genomic data. Am J Hum Genet (2003) 4.01
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med (2012) 3.27
SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell (2013) 3.24
Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med (2005) 3.24
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med (2006) 2.93
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med (2007) 2.85
Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. Am J Hum Genet (2006) 2.63
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet (2007) 2.55
New classification of HLA-DRB1 alleles supports the shared epitope hypothesis of rheumatoid arthritis susceptibility. Arthritis Rheum (2005) 2.48
A hepatocellular carcinoma 5-gene score associated with survival of patients after liver resection. Gastroenterology (2013) 2.37
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A (2003) 2.30
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. Ann Neurol (2009) 2.12
Cerebral palsy and intrauterine growth in single births: European collaborative study. Lancet (2003) 2.11
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry (2012) 1.94
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet (2013) 1.91
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis. Nat Genet (2013) 1.90
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet (2007) 1.89
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Genet (2012) 1.88
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet (2007) 1.85
Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. Hum Mol Genet (2011) 1.83
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nat Genet (2007) 1.71
Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J (2007) 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
NAT2 variation and idiopathic talipes equinovarus (clubfoot). Am J Med Genet A (2007) 1.57
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat (2009) 1.57
Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet (2007) 1.56
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet (2007) 1.54
Impact of parental relationships in maximum lod score affected sib-pair method. Genet Epidemiol (2002) 1.54
G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann Neurol (2005) 1.54
Presence of large deletions in kindreds with autism. Am J Hum Genet (2002) 1.47
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet (2008) 1.45
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain (2009) 1.44
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat (2007) 1.44
[Special outpatient clinic for skeletal dysplasias]. Tidsskr Nor Laegeforen (2015) 1.40
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet (2012) 1.40
Are linkage analysis and the collection of family data dead? Prospects for family studies in the age of genome-wide association. Hum Hered (2007) 1.39
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet (2011) 1.34
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet (2011) 1.33
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology (2012) 1.32
TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Eur J Hum Genet (2005) 1.28
The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1. Arthritis Rheum (2010) 1.28
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet (2007) 1.28
HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype. Haematologica (2012) 1.26
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat (2011) 1.26
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism. Epilepsia (2012) 1.25
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet (2006) 1.24
Expression of a mutant HSP110 sensitizes colorectal cancer cells to chemotherapy and improves disease prognosis. Nat Med (2011) 1.23
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet (2012) 1.23
Validation of the reshaped shared epitope HLA-DRB1 classification in rheumatoid arthritis. Arthritis Res Ther (2006) 1.22
The human telomerase gene: complete genomic sequence and analysis of tandem repeat polymorphisms in intronic regions. Oncogene (2002) 1.22
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol (2002) 1.22
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Eur J Med Genet (2009) 1.22
Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol (2010) 1.21
Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. Am J Hum Genet (2008) 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
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
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Hum Mol Genet (2012) 1.19
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet (2010) 1.18
The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. Hum Mol Genet (2009) 1.17
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A (2015) 1.17
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A (2010) 1.17
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur J Hum Genet (2008) 1.16
Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis. J Pediatr Gastroenterol Nutr (2006) 1.16
HLA related genetic risk for coeliac disease. Gut (2007) 1.16
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. Am J Med Genet A (2012) 1.15
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatr Diabetes (2009) 1.15
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations. J Med Genet (2013) 1.14
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy. Hum Mutat (2010) 1.14