Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes (Q89367578)

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3 April 2020

title

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29961570 AND SRC:MED&resulttype=core&format=json

electronic health records

3 April 2020

main subject

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10

Hongfang Liu

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3 April 2020

author name string

Jung Hoon Son

1

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3 April 2020

Gangcai Xie

2

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3 April 2020

Chi Yuan

3

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Lyudmila Ena

4

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3 April 2020

Ziran Li

5

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Andrew Goldstein

6

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Lulin Huang

7

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Liwei Wang

8

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3 April 2020

Feichen Shen

9

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Karla Mehl

11

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Emily E Groopman

12

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Maddalena Marasa

13

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Krzysztof Kiryluk

14

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Ali G Gharavi

15

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Wendy K Chung

16

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George Hripcsak

17

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Carol Friedman

18

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Chunhua Weng

19

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Kai Wang

20

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publication date

28 June 2018

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American Journal of Human Genetics

3 April 2020

published in

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volume

103

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issue

1

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page(s)

58-73

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Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature

3 April 2020

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The diagnostic pathway in complex paediatric neurology: a cost analysis

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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

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Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

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Interoperability between phenotypes in research and healthcare terminologies--Investigating partial mappings between HPO and SNOMED CT

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The expanding phenotypic spectra of kidney diseases: insights from genetic studies

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Analysis of protein-coding genetic variation in 60,706 humans

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12 December 2020

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KBG syndrome involving a single-nucleotide duplication in ANKRD11.

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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

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Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

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Lessons learned from additional research analyses of unsolved clinical exome cases

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12 December 2020

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

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Deriving genomic diagnoses without revealing patient genomes

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

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Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study

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10.1016/J.AJHG.2018.05.010

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29961570 AND SRC:MED&resulttype=core&format=json

3 April 2020

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3 April 2020

PubMed publication ID

29961570

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