(Q38134407)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24007299%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

title

Pathogenic variants in non-protein-coding sequences (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24007299%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

author

Stilianos Antonarakis

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24007299%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Periklis Makrythanasis

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24007299%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

author name string

P Makrythanasis

series ordinal

1

1 reference

29 August 2017

23 September 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24007299%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24007299%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

volume

84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24007299%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24007299%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

page(s)

422-428

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24007299%20AND%20SRC:MED&resulttype=core&format=json

Sequencing studies in human genetics: design and interpretation.

20 February 2020

cites work

1 reference

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

An integrated encyclopedia of DNA elements in the human genome

21 January 2018

1 reference

Central Dogma of Molecular Biology

21 January 2018

1 reference

GENCODE: the reference human genome annotation for The ENCODE Project

21 January 2018

1 reference

Interpreting noncoding genetic variation in complex traits and human disease

21 January 2018

1 reference

Evidence of abundant purifying selection in humans for recently acquired regulatory functions

21 January 2018

1 reference

The accessible chromatin landscape of the human genome

21 January 2018

1 reference

The long-range interaction landscape of gene promoters

21 January 2018

1 reference

An expansive human regulatory lexicon encoded in transcription factor footprints

21 January 2018

1 reference

Landscape of transcription in human cells

21 January 2018

1 reference

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

21 January 2018

1 reference

MicroRNAs: target recognition and regulatory functions

21 January 2018

1 reference

miRBase: integrating microRNA annotation and deep-sequencing data

21 January 2018

1 reference

MicroRNA biogenesis: coordinated cropping and dicing

21 January 2018

1 reference

Identification of hundreds of conserved and nonconserved human microRNAs

21 January 2018

1 reference

MicroRNA signatures in human cancers

21 January 2018

1 reference

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes

21 January 2018

1 reference

MicroRNA target site polymorphisms and human disease

21 January 2018

1 reference

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

21 January 2018

1 reference

An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice

21 January 2018

1 reference

miR-96 regulates the progression of differentiation in mammalian cochlear inner and outer hair cells

21 January 2018

1 reference

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

21 January 2018

1 reference

Mutation altering the miR-184 seed region causes familial keratoconus with cataract

21 January 2018

1 reference

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.

21 January 2018

1 reference

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

21 January 2018

1 reference

Exploiting and antagonizing microRNA regulation for therapeutic and experimental applications

21 January 2018

1 reference

Long non-coding RNAs: insights into functions

21 January 2018

1 reference

X chromosome inactivation is mediated by Xist RNA stabilization

21 January 2018

1 reference

Tsix, a gene antisense to Xist at the X-inactivation centre

21 January 2018

1 reference

Evolution and functions of long noncoding RNAs

21 January 2018

1 reference

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

21 January 2018

1 reference

Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes

21 January 2018

1 reference

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

21 January 2018

1 reference

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

21 January 2018

1 reference

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms

21 January 2018

1 reference

A misplaced lncRNA causes brachydactyly in humans

21 January 2018

1 reference

HELLP babies link a novel lincRNA to the trophoblast cell cycle

21 January 2018

1 reference

Expression of human snRNA genes from beginning to end.

21 January 2018

1 reference

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

21 January 2018

1 reference

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

21 January 2018

1 reference

Eukaryotic genomes may exhibit up to 10 generic classes of gene promoters

21 January 2018

1 reference

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

21 January 2018

1 reference

Looping and interaction between hypersensitive sites in the active beta-globin locus

21 January 2018

1 reference

Mapping and analysis of chromatin state dynamics in nine human cell types

21 January 2018

1 reference

Genome-wide quantitative enhancer activity maps identified by STARR-seq

21 January 2018

1 reference

Enhancer function: new insights into the regulation of tissue-specific gene expression

21 January 2018

1 reference

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

21 January 2018

1 reference

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

21 January 2018

1 reference

A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud.

21 January 2018

1 reference

Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1

21 January 2018

1 reference

Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.

21 January 2018

1 reference

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

21 January 2018

1 reference

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

21 January 2018

1 reference

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

21 January 2018

1 reference

RNA gain-of-function in spinocerebellar ataxia type 8.

21 January 2018

1 reference

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

21 January 2018

1 reference

Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip

21 January 2018

1 reference

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

21 January 2018

1 reference

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

21 January 2018

1 reference

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12272

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24007299%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24007299%20AND%20SRC:MED&resulttype=core&format=json