(Q38052873)

27 August 2017

Discovery of rare homozygous mutations from studies of consanguineous pedigrees (English)

1 reference

27 August 2017

1 reference

1

Fowzan S Alkuraya

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27 August 2017

1 October 2012

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Current protocols in human genetics / editorial board, Nicholas C, Dracapoli ... [et al.]

27 August 2017

1 reference

27 August 2017

Chapter 6

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27 August 2017

Unit6.12

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Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

27 August 2017

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

In search of triallelism in Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

Fregene: simulation of realistic sequence-level data in populations and ascertained samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

Performance comparison of exome DNA sequencing technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

Detecting autozygosity through runs of homozygosity: a comparison of three autozygosity detection algorithms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

hzAnalyzer: detection, quantification, and visualization of contiguous homozygosity in high-density genotyping datasets

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

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/10.1002%2F0471142905.HG0612S75

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

Calibrating a coalescent simulation of human genome sequence variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

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/10.1002%2F0471142905.HG0612S75

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

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/10.1002%2F0471142905.HG0612S75

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F0471142905.HG0612S75

10.1002/0471142905.HG0612S75

21 January 2018

Identifiers

DOI

1 reference

27 August 2017

1 reference

PubMed ID

23074070