(Q35674974)

9 August 2017

title

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects (English)

1 reference

9 August 2017

A M Slavotinek

1

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9 August 2017

S T Garcia

2

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9 August 2017

G Chandratillake

3

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9 August 2017

T Bardakjian

4

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9 August 2017

E Ullah

5

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9 August 2017

D Wu

6

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9 August 2017

K Umeda

7

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9 August 2017

R Lao

8

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9 August 2017

P L-F Tang

9

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9 August 2017

E Wan

10

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9 August 2017

L Madireddy

11

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9 August 2017

S Lyalina

12

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9 August 2017

B A Mendelsohn

13

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9 August 2017

S Dugan

14

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9 August 2017

J Tirch

15

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9 August 2017

R Tischler

16

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9 August 2017

J Harris

17

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9 August 2017

M J Clark

18

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9 August 2017

S Chervitz

19

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9 August 2017

A Patwardhan

20

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9 August 2017

J M West

21

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9 August 2017

P Ursell

22

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9 August 2017

A de Alba Campomanes

23

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9 August 2017

A Schneider

24

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9 August 2017

P-Y Kwok

25

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9 August 2017

S Baranzini

26

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9 August 2017

R O Chen

27

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9 August 2017

publication date

2 December 2014

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9 August 2017

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9 August 2017

volume

88

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9 August 2017

issue

5

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9 August 2017

page(s)

468-473

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Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

DeNovoGear: de novo indel and point mutation discovery and phasing.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

Childhood presentation of COL4A1 mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

Eye development genes and known syndromes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

Fast and accurate short read alignment with Burrows-Wheeler transform

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

Identification of genes expressed in a human scleral cDNA library

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4452457

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.

27 July 2018

1 reference

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

21 January 2018

1 reference

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

21 January 2018

1 reference

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

21 January 2018

1 reference

Fetal intracerebral hemorrhage and cataract: think COL4A1

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12543

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9 August 2017

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9 August 2017

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