(Q48135305)

9 February 2018

title

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies (English)

1 reference

9 February 2018

author

Mohammed A Aldahmesh

2

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9 February 2018

Ghada M Abdel-Salam

15

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9 February 2018

Fowzan S Alkuraya

30

object named as

Fowzan S Alkuraya

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9 February 2018

28

Ranad Shaheen

1 reference

9 February 2018

Arif O. Khan

6

object named as

Arif O Khan

1 reference

9 February 2018

Dorota Monies

26

object named as

Dorota Monies

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9 February 2018

author name string

Nisha Patel

1

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9 February 2018

Hisham Alkuraya

3

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9 February 2018

Shamsa Anazi

4

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9 February 2018

Hadeel Alsharif

5

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9 February 2018

Asma Sunker

7

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9 February 2018

Saleh Al-Mohsen

8

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9 February 2018

Emad B Abboud

9

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9 February 2018

Sawsan R Nowilaty

10

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9 February 2018

Mohammed Alowain

11

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9 February 2018

Hamad Al-Zaidan

12

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9 February 2018

Bandar Al-Saud

13

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9 February 2018

Ali Alasmari

14

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9 February 2018

Mohamed Abouelhoda

16

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9 February 2018

Firdous M Abdulwahab

17

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9 February 2018

Niema Ibrahim

18

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9 February 2018

Ewa Naim

19

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9 February 2018

Banan Al-Younes

20

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9 February 2018

Abeer E AlMostafa

21

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9 February 2018

Abdulelah AlIssa

22

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9 February 2018

Mais Hashem

23

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9 February 2018

Olga Buzovetsky

24

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9 February 2018

Yong Xiong

25

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9 February 2018

Nada Altassan

27

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9 February 2018

Selwa A F Al-Hazzaa

29

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9 February 2018

language of work or name

English

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publication date

10 September 2015

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9 February 2018

published in

Genetics in Medicine

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9 February 2018

volume

18

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9 February 2018

issue

6

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9 February 2018

page(s)

554-562

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9 February 2018

https://scigraph.springernature.com/pub.10.1038/gim.2015.127

exact match

0 references

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

The molecular basis of human retinal and vitreoretinal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Saudi genetic ophthalmology research: The local and global impact

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Genes and mutations causing retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Next-generation genetic testing for retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Genetics and genomic medicine in Saudi Arabia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Cytosolic carboxypeptidase 5 removes α- and γ-linked glutamates from tubulin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Protein structure prediction on the Web: a case study using the Phyre server

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Cytoplasmic carboxypeptidase 5 regulates tubulin glutamylation and zebrafish cilia formation and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferative neoplasm

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

21 January 2018

1 reference

12 December 2020

Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype

1 reference

12 December 2020

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

1 reference

12 December 2020

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

1 reference

12 December 2020

Erratum to: Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.127

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/GIM.2015.127

1 reference

9 February 2018

Dimensions Publication ID

1021411669

0 references

1 reference

9 February 2018