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A curated gene list for reporting results of newborn genomic sequencing.
scientific article published on 12 January 2017
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
title
A curated gene list for reporting results of newborn genomic sequencing
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
author
Matthew S Lebo
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3
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
Timothy W Yu
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4
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Europe PubMed Central
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5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
Alan H. Beggs
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10
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5507765
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
Heidi L. Rehm
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11
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Europe PubMed Central
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5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
Ozge Ceyhan-Birsoy
series ordinal
1
1 reference
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
Pankaj B Agrawal
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5
1 reference
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
Richard Parad
series ordinal
6
1 reference
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
Ingrid A Holm
series ordinal
7
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Europe PubMed Central
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5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
Robert C. Green
series ordinal
9
1 reference
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
author name string
Kalotina Machini
series ordinal
2
1 reference
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
Amy McGuire
series ordinal
8
1 reference
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
language of work or name
English
0 references
publication date
12 January 2017
1 reference
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
published in
Genetics in Medicine
1 reference
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
volume
19
1 reference
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
issue
7
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
page(s)
809-818
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Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
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Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis
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Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3
1 reference
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Crossref
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https://api.crossref.org/works/10.1038%2FGIM.2016.193
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGIM.2016.193
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/GIM.2016.193
1 reference
stated in
Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
PMC publication ID
5507765
1 reference
stated in
Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
PubMed publication ID
28079900
1 reference
stated in
Europe PubMed Central
PMC publication ID
5507765
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28079900%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 April 2020
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