Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics (Q37761136)

22 August 2017

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title

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics (English)

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22 August 2017

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1

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22 August 2017

Nadia Chuzhanova

7

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Michael Krawczak

8

object named as

Michael Krawczak

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Hildegard Kehrer-Sawatzki

22 August 2017

9

object named as

Hildegard Kehrer-Sawatzki

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22 August 2017

5

Matthew Mort

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22 August 2017

Jian-Min Chen

2

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22 August 2017

Edward V Ball

3

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22 August 2017

Katy Howells

4

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22 August 2017

Andrew D Phillips

6

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22 August 2017

Peter D Stenson

10

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22 August 2017

1 June 2010

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22 August 2017

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22 August 2017

31

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22 August 2017

631-655

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22 August 2017

6

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Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome

22 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

Collection of variation causing disease--the Human Variome Project

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

Identification of intergenic trans-regulatory RNAs containing a disease-linked SNP sequence and targeting cell cycle progression/differentiation pathways in multiple common human disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

A novel microRNA targeting HDAC5 regulates osteoblast differentiation in mice and contributes to primary osteoporosis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

Episodic evolution of growth hormone in primates and emergence of the species specificity of human growth hormone receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

Gene prioritization through genomic data fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Transcription-mediated gene fusion in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Personalized copy number and segmental duplication maps using next-generation sequencing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Selective Pressures at a Codon-level Predict Deleterious Mutations in Human Disease Genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Widely distributed noncoding purifying selection in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Epistatic interactions: how strong in disease and evolution?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

microRNAs in diseases: from candidate to modifier genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Compensated pathogenic deviations: analysis of structural effects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

CNVs and genetic medicine (excitement and consequences of a rediscovery).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Fast-evolving noncoding sequences in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The costs of human inbreeding and their implications for variations at the DNA level

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Large, rare chromosomal deletions associated with severe early-onset obesity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Functional genetic variation of human miRNAs and phenotypic consequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Mapping of small RNAs in the human ENCODE regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Assessing the evolutionary impact of amino acid mutations in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Microsatellite repeat instability and neurological disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Conservation of human microsatellites across 450 million years of evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A MicroRNA signature associated with prognosis and progression in chronic lymphocytic leukemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genome-wide analysis of mammalian promoter architecture and evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Towards a genome-wide reconstruction of cis-regulatory networks in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

beta 0 thalassemia, a nonsense mutation in man

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Role of 5'- and 3'-untranslated regions of mRNAs in human diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The strength of selection on ultraconserved elements in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A common intronic variant of CXCR3 is functionally associated with gene expression levels and the polymorphic immune cell responses to stimuli

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Identification of deleterious mutations within three human genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Distinguishing protein-coding and noncoding genes in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The RNA infrastructure: dark matter of the eukaryotic cell?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Human cis natural antisense transcripts initiated by transposable elements.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Origins and functional impact of copy number variation in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Fine-scale variation and genetic determinants of alternative splicing across individuals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Germline epimutation in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Copy number variation in the mouse genome: implications for the mouse as a model organism for human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

An intronic mutation within FGB (IVS1+2076 a-->g) is associated with afibrinogenemia and recurrent transient ischemic attacks

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Copy-number variation: the end of the human genome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

An evolutionary framework for common diseases: the ancestral-susceptibility model

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Rare variants create synthetic genome-wide associations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Common regulatory variation impacts gene expression in a cell type-dependent manner

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Modifier effects between regulatory and protein-coding variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Pervasive transcription of the eukaryotic genome: functional indices and conceptual implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

An Ancient Evolutionary Origin of Genes Associated with Human Genetic Diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

SnoRNA U50 is a candidate tumor-suppressor gene at 6q14.3 with a mutation associated with clinically significant prostate cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Conserved noncoding sequences are selectively constrained and not mutation cold spots

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Identification of a variant associated with adult-type hypolactasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Distributions of selectively constrained sites and deleterious mutation rates in the hominid and murid genomes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Regulatory roles of natural antisense transcripts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Gene copy number variation and common human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Post-transcriptional processing generates a diversity of 5'-modified long and short RNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Network properties of genes harboring inherited disease mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Characterization of compensated mutations in terms of structural and physico-chemical properties.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Common polymorphic transcript variation in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Human genetic variation and its contribution to complex traits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Differences in the evolutionary history of disease genes affected by dominant or recessive mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Why are some human disease-associated mutations fixed in mice?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Essential genes on metabolic maps.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

What is a gene, post-ENCODE? History and updated definition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Origin of phenotypes: genes and transcripts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Implications of chimaeric non-co-linear transcripts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The human disease network

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Long-range regulation at the SOX9 locus in development and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Strength of the purifying selection against different categories of the point mutations in the coding regions of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Relative effects of mutability and selection on single nucleotide polymorphisms in transcribed regions of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Annotating noncoding RNA genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Integrative analysis of the human cis-antisense gene pairs, miRNAs and their transcription regulation patterns.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A common genetic risk factor for colorectal and prostate cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Transcribed processed pseudogenes in the human genome: an intermediate form of expressed retrosequence lacking protein-coding ability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The antisense transcriptomes of human cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Exome sequencing of a multigenerational human pedigree

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Finding distal regulatory elements in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Intron 17 of the human retinoblastoma susceptibility gene encodes an actively transcribed G protein-coupled receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

An expressed pseudogene regulates the messenger-RNA stability of its homologous coding gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Functional redundancy of the human CCL4 and CCL4L1 chemokine genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Role of duplicate genes in robustness against deleterious human mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Silent (synonymous) SNPs: should we care about them?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Detection of large-scale variation in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Finishing the euchromatic sequence of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Common SNP in pre-miR-146a decreases mature miR expression and predisposes to papillary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.21260

1 reference

7 January 2021

Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Origin of a substantial fraction of human regulatory sequences from transposable elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Large-scale transcriptional activity in chromosomes 21 and 22

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Examples of the complex architecture of the human transcriptome revealed by RACE and high-density tiling arrays

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genome-wide transcription and the implications for genomic organization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Next generation tools for the annotation of human SNPs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Variation in transcription factor binding among humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Antisense transcription in the mammalian transcriptome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Human genome ultraconserved elements are ultraselected

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Exploration of small RNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Evolutionary constraints in conserved nongenic sequences of mammals.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Assessing the genomic evidence for conserved transcribed pseudogenes under selection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Mapping and sequencing of structural variation from eight human genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A highly annotated whole-genome sequence of a Korean individual

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A "silent" polymorphism in the MDR1 gene changes substrate specificity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Long-range gene control and genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Dobzhansky-Muller incompatibilities in protein evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Small fitness effect of mutations in highly conserved non-coding regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Power of deep, all-exon resequencing for discovery of human trait genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Positional conservation and amino acids shape the correct diagnosis and population frequencies of benign and damaging personal amino acid mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genome-wide analysis of transcript isoform variation in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Initial sequencing and analysis of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

3' deletions cause aniridia by preventing PAX6 gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The clinical context of copy number variation in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The diploid genome sequence of an individual human

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Automated inference of molecular mechanisms of disease from amino acid substitutions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genome-wide identification of human RNA editing sites by parallel DNA capturing and sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Building the sequence map of the human pan-genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Identification of homologous microRNAs in 56 animal genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Germline mutation of microRNA-125a is associated with breast cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Microsatellites within genes: structure, function, and evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Functional compensation by duplicated genes in mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Null mutations in human and mouse orthologs frequently result in different phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Large-scale analysis of exonized mammalian-wide interspersed repeats in primate genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Human DNA methylomes at base resolution show widespread epigenomic differences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Association of a germ-line copy number variation at 2p24.3 and risk for aggressive prostate cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Proportionally more deleterious genetic variation in European than in African populations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Human genetic variation recognizes functional elements in noncoding sequence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Are splicing mutations the most frequent cause of hereditary disease?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Highly consistent patterns for inherited human diseases at the molecular level.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genome-wide identification of genes likely to be involved in human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Long intronic noncoding RNA transcription: expression noise or expression choice?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Thousands of human mobile element fragments undergo strong purifying selection near developmental genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Regulation of alternative splicing by histone modifications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Rate, molecular spectrum, and consequences of human mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Extending genome-wide association studies to copy-number variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Dispensability of mammalian DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The human angiotensin II type 1 receptor +1166 A/C polymorphism attenuates microRNA-155 binding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Transcriptional Regulatory Elements in the Human Genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The genetic signatures of noncoding RNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Intergenic, gene terminal, and intragenic CpG islands in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Duplication hotspots, rare genomic disorders, and common disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Long non-coding RNAs: insights into functions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Copy-number variants in neurodevelopmental disorders: promises and challenges

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Understanding human disease mutations through the use of interspecific genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Quantifying the intragenic distribution of human disease mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Which transposable elements are active in the human genome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genetic analysis of genome-wide variation in human gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

How many deleterious mutations are there in the human genome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Predicting the effects of amino acid substitutions on protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genetic variation in an individual human exome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Functional noncoding sequences derived from SINEs in the mammalian genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Quantifying dominance and deleterious effect on human disease genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Evolution and functional classification of vertebrate gene deserts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Direct RNA sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Analysis of human disease genes in the context of gene essentiality

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

ChIP-seq: advantages and challenges of a maturing technology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Local DNA topography correlates with functional noncoding regions of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Tandem chimerism as a means to increase protein complexity in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Influence of human genome polymorphism on gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

In vivo enhancer analysis of human conserved non-coding sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

What is a gene? An updated operational definition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Large-scale identification of novel transcripts in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Raising the estimate of functional human sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Origin and evolution of human microRNAs from transposable elements.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Functionality or transcriptional noise? Evidence for selection within long noncoding RNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Signatures of adaptive evolution within human non-coding sequence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The coupon collector and the suppressor mutation: estimating the number of compensatory mutations by maximum likelihood.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Accelerated evolution of conserved noncoding sequences in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Overlapping pools for high-throughput targeted resequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

RNA exosome depletion reveals transcription upstream of active human promoters

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Ancient human genome sequence of an extinct Palaeo-Eskimo

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

On the allelic spectrum of human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The DART classification of unannotated transcription within the ENCODE regions: associating transcription with known and novel loci

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Frequent emergence and functional resurrection of processed pseudogenes in the human and mouse genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Allelic skewing of DNA methylation is widespread across the genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Common vs. rare allele hypotheses for complex diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Complete Khoisan and Bantu genomes from southern Africa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Strong association of de novo copy number mutations with autism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Large-scale copy number polymorphism in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Divergent transcription from active promoters

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

MicroRNA target site polymorphisms and human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Bioinformatic analysis of exon repetition, exon scrambling and trans-splicing in humans.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Novel genetic variants in microRNA genes and familial breast cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Novel genetic variants in miR-191 gene and familial ovarian cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Human disease genes: patterns and predictions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Using quality scores and longer reads improves accuracy of Solexa read mapping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Personal genome sequencing: current approaches and challenges

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Splicing fidelity, enhancers, and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen ?-chain gene as a novel mechanism for congenital afibrinogenaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Structural variation in the human genome and its role in disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Large recurrent microdeletions associated with schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The Human Gene Mutation Database: 2008 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genome-wide associations of gene expression variation in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Population genomics of human gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Predicting the proportion of essential genes in mouse duplicates based on biased mouse knockout genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

SNPs in human miRNA genes affect biogenesis and function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A functional polymorphism of the TNF-alpha gene that is associated with type 2 DM.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genome-wide survey for biologically functional pseudogenes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Tiny RNAs associated with transcription start sites in animals.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Clues to function in gene deserts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Discovery of short pseudogenes derived from messenger RNAs.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Transposable elements as a significant source of transcription regulating signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The implications of alternative splicing in the ENCODE protein complement

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Synonymous mutations and ribosome stalling can lead to altered folding pathways and distinct minima

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Further understanding human disease genes by comparing with housekeeping genes and other genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Massively parallel sequencing: the next big thing in genetic medicine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Interpreting neonatal lethal phenotypes in mouse mutants: insights into gene function and human diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

cDNA cloning and chromosomal localization of the genes encoding the alpha- and beta-subunits of human Rab geranylgeranyl transferase: the 3' end of the alpha-subunit gene overlaps with the transglutaminase 1 gene promoter.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The Sequence of the Human Genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Transcription-independent heritability of induced histone modifications in the mouse preimplantation embryo

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

High-resolution mapping of expression-QTLs yields insight into human gene regulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genomic views of distant-acting enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

C18orf2, a novel, highly conserved intronless gene within intron 5 of the GNAL gene on chromosome 18p11.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genetic screening for low-penetrance variants in protein-coding genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Splicing in disease: disruption of the splicing code and the decoding machinery

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The diploid genome sequence of an Asian individual

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genome-wide prediction of cis-acting RNA elements regulating tissue-specific pre-mRNA alternative splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

RNA-Seq: a revolutionary tool for transcriptomics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Combinatorial patterns of histone acetylations and methylations in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Mapping of conserved RNA secondary structures predicts thousands of functional noncoding RNAs in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

What do natural antisense transcripts regulate?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The complete genome of an individual by massively parallel DNA sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

ChIP'ing the mammalian genome: technical advances and insights into functional elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Upregulation of c-MYC in cis through a large chromatin loop linked to a cancer risk-associated single-nucleotide polymorphism in colorectal cancer cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genetic variations of microRNAs in human cancer and their effects on the expression of miRNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Mobile elements create structural variation: analysis of a complete human genome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Distribution and effects of nonsense polymorphisms in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Diversity of core promoter elements comprising human bidirectional promoters

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

SNPs in ultraconserved elements and familial breast cancer risk

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The promise and reality of personal genomics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Nested genes in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

MicroRNomics: a newly emerging approach for disease biology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Complex human chromosomal and genomic rearrangements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Statistical analysis of the genomic distribution and correlation of regulatory elements in the ENCODE regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

The ambiguous boundary between genes and pseudogenes: the dead rise up, or do they?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21260

7 January 2021

Identifiers

DOI

10.1002/HUMU.21260

1 reference

22 August 2017

1 reference