(Q34404974)

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Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis

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2 August 2017

Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis (English)

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2 August 2017

congenital disorder

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Robyn V Jamieson

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Robyn V Jamieson

17

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Hakon Hakonarson

15

object named as

Hakon Hakonarson

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2 August 2017

author name string

Yiran Guo

1

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2 August 2017

Ivan Prokudin

2

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2 August 2017

Cong Yu

3

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2 August 2017

Jinlong Liang

4

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2 August 2017

Yi Xie

5

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2 August 2017

Maree Flaherty

6

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2 August 2017

Lifeng Tian

7

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2 August 2017

Stephanie Crofts

8

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2 August 2017

Fengxiang Wang

9

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2 August 2017

James Snyder

10

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2 August 2017

Craig Donaldson

11

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2 August 2017

Nada Abdel-Magid

12

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2 August 2017

Lyam Vazquez

13

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2 August 2017

Brendan Keating

14

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2 August 2017

Jun Wang

16

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2 August 2017

publication date

19 February 2014

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2 August 2017

Ophthalmic Genetics

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2 August 2017

36

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4

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2 August 2017

333-338

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2 August 2017

Leber congenital amaurosis: genes, proteins and disease mechanisms

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Early synaptic defects in tulp1-/- mice

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

SNP detection for massively parallel whole-genome resequencing

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Detection of lineage-specific evolutionary changes among primate species

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Predicting deleterious amino acid substitutions

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Comparative analysis of algorithms for next-generation sequencing read alignment

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Mutation survey of known LCA genes and loci in the Saudi Arabian population

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub Mutant Mice

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Implication of tubby proteins as transcription factors by structure-based functional analysis

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Tubby and tubby-like protein 1 are new MerTK ligands for phagocytosis

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2014.886269

21 January 2018

Identifiers

10.3109/13816810.2014.886269

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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