WS16-6 Two years' experience of utilising CFTR next generation sequencing in a newborn screening program Article Swipe

PDF

Michael J. Rock , Sean T. Mochal , Bethany R. Zeitler , M. Loehe , Mei Baker ·

YOU? · · 2019 · Open Access · · DOI: https://doi.org/10.1016/s1569-1993(19)30216-4

Related Topics

Concepts

Cystic fibrosis Medicine Newborn screening DNA sequencing Pediatrics Internal medicine Genetics Gene Biology

Metadata

Type: article
Language: en
Landing Page: https://doi.org/10.1016/s1569-1993(19)30216-4
PDF: https://doi.org/10.1016/s1569-1993(19)30216-4
OA Status: bronze
Related Works: 10
OpenAlex ID: https://openalex.org/W2947146018

All OpenAlex metadata

Raw OpenAlex JSON

OpenAlex ID: https://openalex.org/W2947146018

Canonical identifier for this work in OpenAlex
DOI: https://doi.org/10.1016/s1569-1993(19)30216-4

Digital Object Identifier
Title: WS16-6 Two years' experience of utilising CFTR next generation sequencing in a newborn screening program

Work title
Type: article

OpenAlex work type
Language: en

Primary language
Publication year: 2019

Year of publication
Publication date: 2019-05-26

Full publication date if available
Authors: Michael J. Rock, Sean T. Mochal, Bethany R. Zeitler, M. Loehe, Mei Baker

List of authors in order
Landing page: https://doi.org/10.1016/s1569-1993(19)30216-4

Publisher landing page
PDF URL: https://doi.org/10.1016/s1569-1993(19)30216-4

Direct link to full text PDF
Open access: Yes

Whether a free full text is available
OA status: bronze

Open access status per OpenAlex
OA URL: https://doi.org/10.1016/s1569-1993(19)30216-4

Direct OA link when available
Concepts: Cystic fibrosis, Medicine, Newborn screening, DNA sequencing, Pediatrics, Internal medicine, Genetics, Gene, Biology

Top concepts (fields/topics) attached by OpenAlex
Cited by: 0

Total citation count in OpenAlex
Related works (count): 10

Other works algorithmically related by OpenAlex

Full payload

id	https://openalex.org/W2947146018
doi	https://doi.org/10.1016/s1569-1993(19)30216-4
ids.doi	https://doi.org/10.1016/s1569-1993(19)30216-4
ids.mag	2947146018
ids.openalex	https://openalex.org/W2947146018
fwci	0.0
type	article
title	WS16-6 Two years' experience of utilising CFTR next generation sequencing in a newborn screening program
biblio.issue
biblio.volume	18
biblio.last_page	S31
biblio.first_page	S31
topics[0].id	https://openalex.org/T10665
topics[0].field.id	https://openalex.org/fields/27
topics[0].field.display_name	Medicine
topics[0].score	0.9686999917030334
topics[0].domain.id	https://openalex.org/domains/4
topics[0].domain.display_name	Health Sciences
topics[0].subfield.id	https://openalex.org/subfields/2740
topics[0].subfield.display_name	Pulmonary and Respiratory Medicine
topics[0].display_name	Cystic Fibrosis Research Advances
topics[1].id	https://openalex.org/T12400
topics[1].field.id	https://openalex.org/fields/27
topics[1].field.display_name	Medicine
topics[1].score	0.9679999947547913
topics[1].domain.id	https://openalex.org/domains/4
topics[1].domain.display_name	Health Sciences
topics[1].subfield.id	https://openalex.org/subfields/2716
topics[1].subfield.display_name	Genetics
topics[1].display_name	Neurogenetic and Muscular Disorders Research
topics[2].id	https://openalex.org/T10549
topics[2].field.id	https://openalex.org/fields/27
topics[2].field.display_name	Medicine
topics[2].score	0.954800009727478
topics[2].domain.id	https://openalex.org/domains/4
topics[2].domain.display_name	Health Sciences
topics[2].subfield.id	https://openalex.org/subfields/2740
topics[2].subfield.display_name	Pulmonary and Respiratory Medicine
topics[2].display_name	Neonatal Respiratory Health Research
is_xpac	False
apc_list.value	4070
apc_list.currency	USD
apc_list.value_usd	4070
apc_paid
concepts[0].id	https://openalex.org/C2776938444
concepts[0].level	2
concepts[0].score	0.9124380946159363
concepts[0].wikidata	https://www.wikidata.org/wiki/Q178194
concepts[0].display_name	Cystic fibrosis
concepts[1].id	https://openalex.org/C71924100
concepts[1].level	0
concepts[1].score	0.8937488794326782
concepts[1].wikidata	https://www.wikidata.org/wiki/Q11190
concepts[1].display_name	Medicine
concepts[2].id	https://openalex.org/C2776169613
concepts[2].level	2
concepts[2].score	0.6281205415725708
concepts[2].wikidata	https://www.wikidata.org/wiki/Q2305910
concepts[2].display_name	Newborn screening
concepts[3].id	https://openalex.org/C51679486
concepts[3].level	3
concepts[3].score	0.4293632507324219
concepts[3].wikidata	https://www.wikidata.org/wiki/Q380546
concepts[3].display_name	DNA sequencing
concepts[4].id	https://openalex.org/C187212893
concepts[4].level	1
concepts[4].score	0.3134908080101013
concepts[4].wikidata	https://www.wikidata.org/wiki/Q123028
concepts[4].display_name	Pediatrics
concepts[5].id	https://openalex.org/C126322002
concepts[5].level	1
concepts[5].score	0.17229121923446655
concepts[5].wikidata	https://www.wikidata.org/wiki/Q11180
concepts[5].display_name	Internal medicine
concepts[6].id	https://openalex.org/C54355233
concepts[6].level	1
concepts[6].score	0.13764968514442444
concepts[6].wikidata	https://www.wikidata.org/wiki/Q7162
concepts[6].display_name	Genetics
concepts[7].id	https://openalex.org/C104317684
concepts[7].level	2
concepts[7].score	0.04821115732192993
concepts[7].wikidata	https://www.wikidata.org/wiki/Q7187
concepts[7].display_name	Gene
concepts[8].id	https://openalex.org/C86803240
concepts[8].level	0
concepts[8].score	0.0373251736164093
concepts[8].wikidata	https://www.wikidata.org/wiki/Q420
concepts[8].display_name	Biology
keywords[0].id	https://openalex.org/keywords/cystic-fibrosis
keywords[0].score	0.9124380946159363
keywords[0].display_name	Cystic fibrosis
keywords[1].id	https://openalex.org/keywords/medicine
keywords[1].score	0.8937488794326782
keywords[1].display_name	Medicine
keywords[2].id	https://openalex.org/keywords/newborn-screening
keywords[2].score	0.6281205415725708
keywords[2].display_name	Newborn screening
keywords[3].id	https://openalex.org/keywords/dna-sequencing
keywords[3].score	0.4293632507324219
keywords[3].display_name	DNA sequencing
keywords[4].id	https://openalex.org/keywords/pediatrics
keywords[4].score	0.3134908080101013
keywords[4].display_name	Pediatrics
keywords[5].id	https://openalex.org/keywords/internal-medicine
keywords[5].score	0.17229121923446655
keywords[5].display_name	Internal medicine
keywords[6].id	https://openalex.org/keywords/genetics
keywords[6].score	0.13764968514442444
keywords[6].display_name	Genetics
keywords[7].id	https://openalex.org/keywords/gene
keywords[7].score	0.04821115732192993
keywords[7].display_name	Gene
keywords[8].id	https://openalex.org/keywords/biology
keywords[8].score	0.0373251736164093
keywords[8].display_name	Biology
language	en
locations[0].id	doi:10.1016/s1569-1993(19)30216-4
locations[0].is_oa	True
locations[0].source.id	https://openalex.org/S147774598
locations[0].source.issn	1569-1993, 1873-5010
locations[0].source.type	journal
locations[0].source.is_oa	False
locations[0].source.issn_l	1569-1993
locations[0].source.is_core	True
locations[0].source.is_in_doaj	False
locations[0].source.display_name	Journal of Cystic Fibrosis
locations[0].source.host_organization	https://openalex.org/P4310320990
locations[0].source.host_organization_name	Elsevier BV
locations[0].source.host_organization_lineage	https://openalex.org/P4310320990
locations[0].source.host_organization_lineage_names	Elsevier BV
locations[0].license
locations[0].pdf_url	https://doi.org/10.1016/s1569-1993(19)30216-4
locations[0].version	publishedVersion
locations[0].raw_type	journal-article
locations[0].license_id
locations[0].is_accepted	True
locations[0].is_published	True
locations[0].raw_source_name	Journal of Cystic Fibrosis
locations[0].landing_page_url	https://doi.org/10.1016/s1569-1993(19)30216-4
indexed_in	crossref
authorships[0].author.id	https://openalex.org/A5063428963
authorships[0].author.orcid	https://orcid.org/0000-0001-9665-1737
authorships[0].author.display_name	Michael J. Rock
authorships[0].countries	GB
authorships[0].affiliations[0].institution_ids	https://openalex.org/I4210100347
authorships[0].affiliations[0].raw_affiliation_string	Birmingham Children's Hospital, Department of Paediatric Respiratory Medicine, Birmingham, United Kingdom;
authorships[0].institutions[0].id	https://openalex.org/I4210100347
authorships[0].institutions[0].ror	https://ror.org/017k80q27
authorships[0].institutions[0].type	healthcare
authorships[0].institutions[0].lineage	https://openalex.org/I4210100347, https://openalex.org/I4210155225
authorships[0].institutions[0].country_code	GB
authorships[0].institutions[0].display_name	Birmingham Children's Hospital
authorships[0].author_position	first
authorships[0].raw_author_name	M. Rock
authorships[0].is_corresponding	False
authorships[0].raw_affiliation_strings	Birmingham Children's Hospital, Department of Paediatric Respiratory Medicine, Birmingham, United Kingdom;
authorships[1].author.id	https://openalex.org/A5045262236
authorships[1].author.orcid
authorships[1].author.display_name	Sean T. Mochal
authorships[1].countries	GB
authorships[1].affiliations[0].institution_ids	https://openalex.org/I4210100347
authorships[1].affiliations[0].raw_affiliation_string	Birmingham Children's Hospital, Department of Paediatric Respiratory Medicine, Birmingham, United Kingdom;
authorships[1].institutions[0].id	https://openalex.org/I4210100347
authorships[1].institutions[0].ror	https://ror.org/017k80q27
authorships[1].institutions[0].type	healthcare
authorships[1].institutions[0].lineage	https://openalex.org/I4210100347, https://openalex.org/I4210155225
authorships[1].institutions[0].country_code	GB
authorships[1].institutions[0].display_name	Birmingham Children's Hospital
authorships[1].author_position	middle
authorships[1].raw_author_name	S. Mochal
authorships[1].is_corresponding	False
authorships[1].raw_affiliation_strings	Birmingham Children's Hospital, Department of Paediatric Respiratory Medicine, Birmingham, United Kingdom;
authorships[2].author.id	https://openalex.org/A5021779906
authorships[2].author.orcid
authorships[2].author.display_name	Bethany R. Zeitler
authorships[2].countries	GB
authorships[2].affiliations[0].institution_ids	https://openalex.org/I4210094656
authorships[2].affiliations[0].raw_affiliation_string	Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom;
authorships[2].institutions[0].id	https://openalex.org/I4210094656
authorships[2].institutions[0].ror	https://ror.org/00p18zw56
authorships[2].institutions[0].type	healthcare
authorships[2].institutions[0].lineage	https://openalex.org/I4210094656
authorships[2].institutions[0].country_code	GB
authorships[2].institutions[0].display_name	Alder Hey Children's NHS Foundation Trust
authorships[2].author_position	middle
authorships[2].raw_author_name	B. Zeitler
authorships[2].is_corresponding	False
authorships[2].raw_affiliation_strings	Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom;
authorships[3].author.id	https://openalex.org/A5035495541
authorships[3].author.orcid
authorships[3].author.display_name	M. Loehe
authorships[3].countries	GB
authorships[3].affiliations[0].institution_ids	https://openalex.org/I4210100347
authorships[3].affiliations[0].raw_affiliation_string	Birmingham Children's Hospital, Department of Paediatric Respiratory Medicine, Birmingham, United Kingdom;
authorships[3].institutions[0].id	https://openalex.org/I4210100347
authorships[3].institutions[0].ror	https://ror.org/017k80q27
authorships[3].institutions[0].type	healthcare
authorships[3].institutions[0].lineage	https://openalex.org/I4210100347, https://openalex.org/I4210155225
authorships[3].institutions[0].country_code	GB
authorships[3].institutions[0].display_name	Birmingham Children's Hospital
authorships[3].author_position	middle
authorships[3].raw_author_name	M. Loehe
authorships[3].is_corresponding	False
authorships[3].raw_affiliation_strings	Birmingham Children's Hospital, Department of Paediatric Respiratory Medicine, Birmingham, United Kingdom;
authorships[4].author.id	https://openalex.org/A5080935346
authorships[4].author.orcid	https://orcid.org/0000-0002-8707-1834
authorships[4].author.display_name	Mei Baker
authorships[4].countries	GB
authorships[4].affiliations[0].institution_ids	https://openalex.org/I4210100347
authorships[4].affiliations[0].raw_affiliation_string	Birmingham Children's Hospital, Department of Paediatric Respiratory Medicine, Birmingham, United Kingdom;
authorships[4].institutions[0].id	https://openalex.org/I4210100347
authorships[4].institutions[0].ror	https://ror.org/017k80q27
authorships[4].institutions[0].type	healthcare
authorships[4].institutions[0].lineage	https://openalex.org/I4210100347, https://openalex.org/I4210155225
authorships[4].institutions[0].country_code	GB
authorships[4].institutions[0].display_name	Birmingham Children's Hospital
authorships[4].author_position	last
authorships[4].raw_author_name	M. Baker
authorships[4].is_corresponding	False
authorships[4].raw_affiliation_strings	Birmingham Children's Hospital, Department of Paediatric Respiratory Medicine, Birmingham, United Kingdom;
has_content.pdf	True
has_content.grobid_xml	True
is_paratext	False
open_access.is_oa	True
open_access.oa_url	https://doi.org/10.1016/s1569-1993(19)30216-4
open_access.oa_status	bronze
open_access.any_repository_has_fulltext	False
created_date	2025-10-10T00:00:00
display_name	WS16-6 Two years' experience of utilising CFTR next generation sequencing in a newborn screening program
has_fulltext	True
is_retracted	False
updated_date	2025-11-06T03:46:38.306776
primary_topic.id	https://openalex.org/T10665
primary_topic.field.id	https://openalex.org/fields/27
primary_topic.field.display_name	Medicine
primary_topic.score	0.9686999917030334
primary_topic.domain.id	https://openalex.org/domains/4
primary_topic.domain.display_name	Health Sciences
primary_topic.subfield.id	https://openalex.org/subfields/2740
primary_topic.subfield.display_name	Pulmonary and Respiratory Medicine
primary_topic.display_name	Cystic Fibrosis Research Advances
related_works	https://openalex.org/W2748952813, https://openalex.org/W3031052312, https://openalex.org/W2334695114, https://openalex.org/W3171594556, https://openalex.org/W3033682997, https://openalex.org/W1928203516, https://openalex.org/W2045387260, https://openalex.org/W2084117167, https://openalex.org/W2980968964, https://openalex.org/W1973594590
cited_by_count	0
locations_count	1
best_oa_location.id	doi:10.1016/s1569-1993(19)30216-4
best_oa_location.is_oa	True
best_oa_location.source.id	https://openalex.org/S147774598
best_oa_location.source.issn	1569-1993, 1873-5010
best_oa_location.source.type	journal
best_oa_location.source.is_oa	False
best_oa_location.source.issn_l	1569-1993
best_oa_location.source.is_core	True
best_oa_location.source.is_in_doaj	False
best_oa_location.source.display_name	Journal of Cystic Fibrosis
best_oa_location.source.host_organization	https://openalex.org/P4310320990
best_oa_location.source.host_organization_name	Elsevier BV
best_oa_location.source.host_organization_lineage	https://openalex.org/P4310320990
best_oa_location.source.host_organization_lineage_names	Elsevier BV
best_oa_location.license
best_oa_location.pdf_url	https://doi.org/10.1016/s1569-1993(19)30216-4
best_oa_location.version	publishedVersion
best_oa_location.raw_type	journal-article
best_oa_location.license_id
best_oa_location.is_accepted	True
best_oa_location.is_published	True
best_oa_location.raw_source_name	Journal of Cystic Fibrosis
best_oa_location.landing_page_url	https://doi.org/10.1016/s1569-1993(19)30216-4
primary_location.id	doi:10.1016/s1569-1993(19)30216-4
primary_location.is_oa	True
primary_location.source.id	https://openalex.org/S147774598
primary_location.source.issn	1569-1993, 1873-5010
primary_location.source.type	journal
primary_location.source.is_oa	False
primary_location.source.issn_l	1569-1993
primary_location.source.is_core	True
primary_location.source.is_in_doaj	False
primary_location.source.display_name	Journal of Cystic Fibrosis
primary_location.source.host_organization	https://openalex.org/P4310320990
primary_location.source.host_organization_name	Elsevier BV
primary_location.source.host_organization_lineage	https://openalex.org/P4310320990
primary_location.source.host_organization_lineage_names	Elsevier BV
primary_location.license
primary_location.pdf_url	https://doi.org/10.1016/s1569-1993(19)30216-4
primary_location.version	publishedVersion
primary_location.raw_type	journal-article
primary_location.license_id
primary_location.is_accepted	True
primary_location.is_published	True
primary_location.raw_source_name	Journal of Cystic Fibrosis
primary_location.landing_page_url	https://doi.org/10.1016/s1569-1993(19)30216-4
publication_date	2019-05-26
publication_year	2019
referenced_works_count	0
abstract_inverted_index
cited_by_percentile_year
countries_distinct_count	1
institutions_distinct_count	5
sustainable_development_goals[0].id	https://metadata.un.org/sdg/2
sustainable_development_goals[0].score	0.6700000166893005
sustainable_development_goals[0].display_name	Zero hunger
citation_normalized_percentile.value	0.08702194
citation_normalized_percentile.is_in_top_1_percent	False
citation_normalized_percentile.is_in_top_10_percent	False