Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data (Q31159196)

29 June 2017

title

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data (English)

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29 June 2017

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11 June 2020

Julien Thevenon

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11 June 2020

Marlene Rio

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11 June 2020

Agnès Rötig

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11 June 2020

Paul Kuentz

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11 June 2020

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A L Bruel

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11 June 2020

author name string

D Gavrilov

2

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11 June 2020

M Bainbridge

5

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11 June 2020

C Goizet

7

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11 June 2020

J Jaeken

9

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11 June 2020

N Niu

10

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11 June 2020

F Xia

11

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11 June 2020

A Vital

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11 June 2020

N Houcinat

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11 June 2020

F Mochel

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11 June 2020

D Lehalle

16

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11 June 2020

Y Duffourd

17

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11 June 2020

J B Rivière

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11 June 2020

C Thauvin-Robinet

19

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11 June 2020

A L Beaudet

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11 June 2020

L Faivre

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11 June 2020

publication date

2 February 2017

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29 June 2017

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11 June 2020

volume

92

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11 June 2020

issue

2

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11 June 2020

page(s)

188-198

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Augmenter of liver regeneration: Its place in the universe of hepatic growth factors

11 June 2020

cites work

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ERV1 is involved in the cell-division cycle and the maintenance of mitochondrial genomes in Saccharomyces cerevisiae

21 January 2018

1 reference

Iron-sulfur cluster biogenesis and human disease

21 January 2018

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Mitochondrial iron-sulfur protein biogenesis and human disease

21 January 2018

1 reference

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

21 January 2018

1 reference

Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature

21 January 2018

1 reference

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.

21 January 2018

1 reference

Molecular findings among patients referred for clinical whole-exome sequencing

21 January 2018

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A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast

21 January 2018

1 reference

Identification of hepatopoietin dimerization, its interacting regions and alternative splicing of its transcription

21 January 2018

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The Sequence of the Human Genome

21 January 2018

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The sequence and analysis of duplication-rich human chromosome 16

21 January 2018

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Next-generation sequencing demands next-generation phenotyping

21 January 2018

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Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

21 January 2018

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9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

21 January 2018

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Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

21 January 2018

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A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis

21 January 2018

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Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

21 January 2018

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Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

21 January 2018

1 reference

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome

21 January 2018

1 reference

Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations

21 January 2018

1 reference

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

21 January 2018

1 reference

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

21 January 2018

1 reference

21 January 2018

1 reference

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

21 January 2018

1 reference

GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation

21 January 2018

1 reference

Capturing phenotypes for precision medicine

21 January 2018

1 reference

Oxidative phosphorylation defect associated with primary adrenal insufficiency

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12985

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28155230%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

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