(Q37995121)

26 August 2017

title

Regulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnostics (English)

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26 August 2017

Olga Jarinova

1

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26 August 2017

Marc Ekker

series ordinal

2

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26 August 2017

language of work or name

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16 April 2012

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26 August 2017

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26 August 2017

volume

33

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26 August 2017

issue

7

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26 August 2017

page(s)

1021-1030

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Renin enhancer is critical for control of renin gene expression and cardiovascular function.

26 August 2017

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Noncoding RNA in development

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Synthetic associations are unlikely to account for many common disease genome-wide association signals

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Analysis of a new homozygous deletion in the tumor suppressor region at 3p12.3 reveals two novel intronic noncoding RNA genes

21 January 2018

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beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site

21 January 2018

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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

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Frequent deletions and down-regulation of micro- RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia

21 January 2018

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

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Noncoding human Y RNAs are overexpressed in tumours and required for cell proliferation

21 January 2018

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Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

21 January 2018

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Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.

21 January 2018

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Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

21 January 2018

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Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

21 January 2018

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Alternately spliced WT1 antisense transcripts interact with WT1 sense RNA and show epigenetic and splicing defects in cancer

21 January 2018

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Conserved non-genic sequences - an unexpected feature of mammalian genomes

21 January 2018

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Developmental regulation of the Hox genes during axial morphogenesis in the mouse

21 January 2018

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Rare variants create synthetic genome-wide associations

21 January 2018

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Implication of snoRNA U50 in human breast cancer

21 January 2018

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Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites

21 January 2018

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Multiple whole-genome alignments without a reference organism

21 January 2018

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Cis-regulatory mutations in human disease

21 January 2018

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Pre-mRNA splicing and human disease

21 January 2018

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A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

21 January 2018

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Alternative splicing in disease and therapy

21 January 2018

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Regulatory roles of conserved intergenic domains in vertebrate Dlx bigene clusters.

21 January 2018

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Unlocking Mendelian disease using exome sequencing

21 January 2018

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Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals

21 January 2018

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9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response

21 January 2018

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Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome

21 January 2018

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Interleukin-10 and transforming growth factor-beta promoter polymorphisms in allergies and asthma

21 January 2018

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Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

21 January 2018

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Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction

21 January 2018

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Functional resolution of duplicated hoxb5 genes in teleosts

21 January 2018

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Functional analysis of the chromosome 9p21.3 coronary artery disease risk locus.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22083

RNA maps reveal new RNA classes and a possible function for pervasive transcription

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22083

Many human large intergenic noncoding RNAs associate with chromatin-modifying complexes and affect gene expression

21 January 2018

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Widespread transcription at neuronal activity-regulated enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22083

Gene silencing in cancer by histone H3 lysine 27 trimethylation independent of promoter DNA methylation

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22083

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22083

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22083

Finding signals that regulate alternative splicing in the post-genomic era

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22083

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22083

A unifying genetic model for facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

21 January 2018

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Role of a neuronal small non-messenger RNA: behavioural alterations in BC1 RNA-deleted mice.

21 January 2018

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A downstream element in the human beta-globin promoter: evidence of extended sequence-specific transcription factor IID contacts

21 January 2018

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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

21 January 2018

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Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease

21 January 2018

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Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome

21 January 2018

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A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction

21 January 2018

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Transcriptional Regulatory Elements in the Human Genome

21 January 2018

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The genetic signatures of noncoding RNAs

21 January 2018

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A common allele on chromosome 9 associated with coronary heart disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22083

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22083

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

GAS5, a non-protein-coding RNA, controls apoptosis and is downregulated in breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Rapid evolution of noncoding RNAs: lack of conservation does not mean lack of function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

The proneural determinant MASH1 regulates forebrain Dlx1/2 expression through the I12b intergenic enhancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Human Gene Mutation Database (HGMD): 2003 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Non-coding RNAs: regulators of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

A genetic screen implicates miRNA-372 and miRNA-373 as oncogenes in testicular germ cell tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Splicing regulation: from a parts list of regulatory elements to an integrated splicing code

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Chromatin immunoprecipitation (ChIP) scanning identifies primary glucocorticoid receptor target genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Systematic identification and analysis of exonic splicing silencers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

A highly conserved lens transcriptional control element from the Pax-6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Systematic analysis of transcribed loci in ENCODE regions using RACE sequencing reveals extensive transcription in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Molecular interplay of the noncoding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Variation in sequence and organization of splicing regulatory elements in vertebrate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Numerous potentially functional but non-genic conserved sequences on human chromosome 21

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

7 January 2021

A novel mechanism of aberrant pre-mRNA splicing in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

7 January 2021

Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

7 January 2021

A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

7 January 2021

A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

7 January 2021

Evolutionary divergence of vertebrate Hoxb2 expression patterns and transcriptional regulatory loci

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22083

7 January 2021

Identifiers

DOI

10.1002/HUMU.22083

1 reference

26 August 2017

1 reference