Revisiting Mendelian disorders through exome sequencing (Q37844489)

24 August 2017

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title

Revisiting Mendelian disorders through exome sequencing (English)

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24 August 2017

2

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24 August 2017

3

Yudi Pawitan

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24 August 2017

Chee-Seng Ku

1

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24 August 2017

18 February 2011

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24 August 2017

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24 August 2017

129

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24 August 2017

351-370

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24 August 2017

4

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https://scigraph.springernature.com/pub.10.1007/s00439-011-0964-2

24 August 2017

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Genetic mapping in human disease

21 January 2018

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Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome

21 January 2018

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Mendelian disorders deserve more attention

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Mendelian disorders and multifactorial traits: the big divide or one for all?

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

The genetics of autoimmune diseases: a networked perspective

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Accurate whole human genome sequencing using reversible terminator chemistry

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Whole-exome-sequencing-based discovery of human FADD deficiency

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Human monogenic disorders - a source of novel drug targets

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Methods and strategies for analyzing copy number variation using DNA microarrays

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

The evolution of noncoding DNA: how much junk, how much func?

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Common genetic variation near MC4R is associated with waist circumference and insulin resistance

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Genomic rearrangements in inherited disease and cancer

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Revealing the human mutome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

The genetics and immunopathogenesis of inflammatory bowel disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Identification of genetic variants using bar-coded multiplexed sequencing

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

dbSNP in the detail and copy number complexities

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Taiwan Biobank: a project aiming to aid Taiwan's transition into a biomedical island

21 January 2018

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Mendelian forms of Parkinson's disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Identifying modifier genes of monogenic disease: strategies and difficulties.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Plasma lipoproteins: genetic influences and clinical implications

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Genetic approaches to studying common diseases and complex traits

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

A comprehensive review of genetic association studies

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Exome sequencing in Brown-Vialetto-van Laere syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Defining the spectrum of alleles that contribute to blood lipid concentrations in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Complement factor H polymorphism in age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Challenges of sequencing human genomes

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Paired-end mapping reveals extensive structural variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

The pursuit of genome-wide association studies: where are we now?

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

The mutation spectrum revealed by paired genome sequences from a lung cancer patient

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Parkinson's disease: from monogenic forms to genetic susceptibility factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

State of the art de novo assembly of human genomes from massively parallel sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Common variants near MC4R are associated with fat mass, weight and risk of obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Mendelian forms of human hypertension and mechanisms of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Target-enrichment strategies for next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Finding the missing heritability of complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

New links to the pathogenesis of Crohn disease provided by genome-wide association scans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Genomics, type 2 diabetes, and obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Computational methods for discovering structural variation with next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Sequencing technologies - the next generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Massively parallel sequencing and rare disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

21 January 2018

UK Biobank: bank on it.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

A small-cell lung cancer genome with complex signatures of tobacco exposure

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

New perspectives for the elucidation of genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Common variants in WFS1 confer risk of type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

A window into third-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

The success of the genome-wide association approach: a brief story of a long struggle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Next-generation DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Bar-coded, multiplexed sequencing of targeted DNA regions using the Illumina Genome Analyzer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Biological, clinical and population relevance of 95 loci for blood lipids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

The diploid genome sequence of an Asian individual

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

The complete genome of an individual by massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Sensitive and accurate detection of copy number variants using read depth of coverage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0964-2

Novel genomic techniques open new avenues in the analysis of monogenic disorders

21 January 2018

1 reference

12 December 2020

The BioBank Japan Project.

1 reference

12 December 2020

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

1 reference

12 December 2020

Integrating common and rare genetic variation in diverse human populations

1 reference

12 December 2020

Genetics of coronary artery disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

1 reference

12 December 2020

Single gene disorders come into focus--again

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12 December 2020

McKusick's Online Mendelian Inheritance in Man (OMIM)

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12 December 2020

Exome sequencing reveals VCP mutations as a cause of familial ALS

1 reference

12 December 2020

A map of human genome variation from population-scale sequencing

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12 December 2020

Methods for genomic partitioning

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12 December 2020

10.1007/S00439-011-0964-2

Identifiers

DOI

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24 August 2017

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PubMed ID

21331778