The application of next-generation sequencing in the autozygosity mapping of human recessive diseases (Q38125937)

29 August 2017

title

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases (English)

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29 August 2017

1

Fowzan S Alkuraya

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29 August 2017

publication date

2 August 2013

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29 August 2017

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29 August 2017

volume

132

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29 August 2017

issue

11

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29 August 2017

page(s)

1197-1211

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https://scigraph.springernature.com/pub.10.1007/s00439-013-1344-x

29 August 2017

exact match

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cites work

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms

21 January 2018

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Molecular characterization of Joubert syndrome in Saudi Arabia.

21 January 2018

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Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

21 January 2018

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Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

21 January 2018

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Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

21 January 2018

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Homozygous null mutation in ODZ3 causes microphthalmia in humans

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Mutation in MPDZ causes severe congenital hydrocephalus.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Homozygosity mapping: one more tool in the clinical geneticist's toolbox

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

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%2FS00439-013-1344-X

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

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%2FS00439-013-1344-X

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Estimating the human mutation rate using autozygosity in a founder population

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Autozygosity mapping with exome sequence data

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Implications of the Human Genome Project for medical science.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Disease gene mapping in isolated human populations: the example of Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Exome sequencing can improve diagnosis and alter patient management

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

The molecular basis of alkaptonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

The incidence of alkaptonuria: a study in chemical individuality. 1902 [classical article]

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Unlocking Mendelian disease using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Disease gene identification strategies for exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Charting a course for genomic medicine from base pairs to bedside

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Finding disease variants in Mendelian disorders by using sequence data: methods and applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Rate of de novo mutations and the importance of father's age to disease risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

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%2FS00439-013-1344-X

Revisiting Mendelian disorders through exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Initial sequencing and analysis of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

A systematic survey of loss-of-function variants in human protein-coding genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

What can exome sequencing do for you?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Mutations in ECEL1 cause distal arthrogryposis type 5D

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Sequencing technologies - the next generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Massively parallel sequencing and rare disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

EX-HOM (EXome HOMozygosity): a proof of principle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

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%2FS00439-013-1344-X

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

DNA sequencing with chain-terminating inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Mutations in TMEM231 cause Meckel-Gruber syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Next-generation DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Challenges in whole exome sequencing: an example from hereditary deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

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%2FS00439-013-1344-X

Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

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%2FS00439-013-1344-X

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%2FS00439-013-1344-X

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

Detecting identity by descent and homozygosity mapping in whole-exome sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1344-X

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

21 January 2018

1 reference

12 December 2020

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy

1 reference

12 December 2020

The human genome project--some implications of extensive "reverse genetic" medicine

1 reference

12 December 2020

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α

1 reference

12 December 2020

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

1 reference

12 December 2020

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

1 reference

12 December 2020

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

1 reference

12 December 2020

Exome sequencing identifies the cause of a mendelian disorder

1 reference

12 December 2020

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

1 reference

12 December 2020

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

1 reference

12 December 2020

Mutations in ALDH1A3 cause microphthalmia.

1 reference

12 December 2020

10.1007/S00439-013-1344-X

Identifiers

DOI

1 reference

Dimensions Publication ID

29 August 2017

1051941291

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1 reference