Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities. (Q52776190)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159939%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

title

Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities (English)

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3 April 2020

1

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3 April 2020

Yu Sun

15

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3 April 2020

author name string

Wenjuan Qiu

2

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3 April 2020

Xing Ji

3

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3 April 2020

Xiaoqing Liu

4

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3 April 2020

Zhuo Huang

5

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3 April 2020

Huili Liu

6

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3 April 2020

Yanjie Fan

7

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3 April 2020

Yan Xu

8

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3 April 2020

Yu Liu

9

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3 April 2020

Hui Yie

10

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3 April 2020

Wei Wei

11

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3 April 2020

Hui Yan

12

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3 April 2020

Zhuwen Gong

13

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3 April 2020

Lixiao Shen

14

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3 April 2020

language of work or name

English

0 references

publication date

21 November 2017

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American Journal of Medical Genetics

3 April 2020

published in

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3 April 2020

volume

176

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3 April 2020

page(s)

107-115

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3 April 2020

issue

1

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GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

3 April 2020

cites work

1 reference

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Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

21 January 2018

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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

21 January 2018

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Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

21 January 2018

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Next-generation sequencing demands next-generation phenotyping

21 January 2018

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Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type

21 January 2018

1 reference

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The epidemiology of mental retardation: challenges and opportunities in the new millennium

21 January 2018

1 reference

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Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

21 January 2018

1 reference

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Guidelines for diagnostic next-generation sequencing

21 January 2018

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CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

21 January 2018

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

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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

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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

21 January 2018

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

21 January 2018

1 reference

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The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

21 January 2018

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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

21 January 2018

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Exome Sequencing and the Management of Neurometabolic Disorders.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38542

Mutations in MED12 cause X-linked Ohdo syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38542

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

21 January 2018

1 reference

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38542

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29159939%20AND%20SRC:MED&resulttype=core&format=json

release_dcxkxa7hrfbdxakjbwdksbu6vi

3 April 2020

Fatcat ID

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Fatcat

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mapped directly with Wikidata item

24 November 2022

based on heuristic

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