Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Saved in:
Bibliographic Details
Published inGenes & diseases Vol. 11; no. 5; p. 101111
Main Authors Deutsch, Konstantin, Klämbt, Verena, Kitzler, Thomas M., Jobst-Schwan, Tilman, Schneider, Ronen, Buerger, Florian, Seltzsam, Steve, El Desoky, Sherif, Kari, Jameela A., Hafeez, Farkhanda, Szczepańska, Maria, Eid, Loai A., Awad, Hazem S., Al-Saffar, Muna, Soliman, Neveen A., Tasic, Velibor, Nicolas-Frank, Camille, Yousef, Kirollos, Schierbaum, Luca M., Schneider, Sophia, Halawi, Abdul, Elmubarak, Izzeldin, Lemberg, Katharina, Shril, Shirlee, Mane, Shrikant M., Rodig, Nancy, Hildebrandt, Friedhelm
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 01.09.2024
Chongqing Medical University
KeAi Communications Co., Ltd
Subjects
Rapid Communication
Online AccessGet full text

Cover

ArticleNumber 101111
Author Hafeez, Farkhanda
Jobst-Schwan, Tilman
Soliman, Neveen A.
Schneider, Ronen
Hildebrandt, Friedhelm
Schneider, Sophia
Rodig, Nancy
Tasic, Velibor
Halawi, Abdul
Buerger, Florian
Nicolas-Frank, Camille
Seltzsam, Steve
Mane, Shrikant M.
Schierbaum, Luca M.
Kitzler, Thomas M.
Shril, Shirlee
Elmubarak, Izzeldin
Lemberg, Katharina
Awad, Hazem S.
Szczepańska, Maria
El Desoky, Sherif
Kari, Jameela A.
Deutsch, Konstantin
Yousef, Kirollos
Eid, Loai A.
Al-Saffar, Muna
Klämbt, Verena
Author_xml – sequence: 1
  givenname: Konstantin
  orcidid: 0000-0003-2952-5030
  surname: Deutsch
  fullname: Deutsch, Konstantin
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 2
  givenname: Verena
  surname: Klämbt
  fullname: Klämbt, Verena
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 3
  givenname: Thomas M.
  surname: Kitzler
  fullname: Kitzler, Thomas M.
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 4
  givenname: Tilman
  surname: Jobst-Schwan
  fullname: Jobst-Schwan, Tilman
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 5
  givenname: Ronen
  surname: Schneider
  fullname: Schneider, Ronen
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 6
  givenname: Florian
  surname: Buerger
  fullname: Buerger, Florian
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 7
  givenname: Steve
  orcidid: 0000-0002-1269-6899
  surname: Seltzsam
  fullname: Seltzsam, Steve
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 8
  givenname: Sherif
  surname: El Desoky
  fullname: El Desoky, Sherif
  organization: Department of Pediatrics, Faculty of Medicine King Abdulaziz University, Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia
– sequence: 9
  givenname: Jameela A.
  orcidid: 0000-0001-7628-8926
  surname: Kari
  fullname: Kari, Jameela A.
  organization: Department of Pediatrics, Faculty of Medicine King Abdulaziz University, Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia
– sequence: 10
  givenname: Farkhanda
  surname: Hafeez
  fullname: Hafeez, Farkhanda
  organization: Department of Pediatric Nephrology, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan
– sequence: 11
  givenname: Maria
  orcidid: 0000-0002-6772-1983
  surname: Szczepańska
  fullname: Szczepańska, Maria
  organization: Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Katowice 40-752, Poland
– sequence: 12
  givenname: Loai A.
  surname: Eid
  fullname: Eid, Loai A.
  organization: Dubai Hospital and Al-Jalila Children's Specialty Hospital, Kidney Center of Excellence, Dubai 4545, United Arab Emirates
– sequence: 13
  givenname: Hazem S.
  surname: Awad
  fullname: Awad, Hazem S.
  organization: Dubai Hospital and Al-Jalila Children's Specialty Hospital, Kidney Center of Excellence, Dubai 4545, United Arab Emirates
– sequence: 14
  givenname: Muna
  surname: Al-Saffar
  fullname: Al-Saffar, Muna
  organization: Department of Genetics and Genomics, UAE University, Abu Dhabi 15551, United Arab Emirates
– sequence: 15
  givenname: Neveen A.
  orcidid: 0000-0002-8942-1973
  surname: Soliman
  fullname: Soliman, Neveen A.
  organization: Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo 11562, Egypt
– sequence: 16
  givenname: Velibor
  surname: Tasic
  fullname: Tasic, Velibor
  organization: Medical Faculty Skopje, University Children's Hospital, Skopje 1000, North Macedonia
– sequence: 17
  givenname: Camille
  surname: Nicolas-Frank
  fullname: Nicolas-Frank, Camille
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 18
  givenname: Kirollos
  surname: Yousef
  fullname: Yousef, Kirollos
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 19
  givenname: Luca M.
  surname: Schierbaum
  fullname: Schierbaum, Luca M.
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 20
  givenname: Sophia
  orcidid: 0000-0003-4872-0093
  surname: Schneider
  fullname: Schneider, Sophia
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 21
  givenname: Abdul
  surname: Halawi
  fullname: Halawi, Abdul
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 22
  givenname: Izzeldin
  orcidid: 0000-0002-0578-9456
  surname: Elmubarak
  fullname: Elmubarak, Izzeldin
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 23
  givenname: Katharina
  orcidid: 0009-0005-1725-9152
  surname: Lemberg
  fullname: Lemberg, Katharina
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 24
  givenname: Shirlee
  surname: Shril
  fullname: Shril, Shirlee
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 25
  givenname: Shrikant M.
  surname: Mane
  fullname: Mane, Shrikant M.
  organization: Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA
– sequence: 26
  givenname: Nancy
  surname: Rodig
  fullname: Rodig, Nancy
  email: nancy.rodig@childrens.harvard.edu
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
– sequence: 27
  givenname: Friedhelm
  surname: Hildebrandt
  fullname: Hildebrandt, Friedhelm
  email: Friedhelm.Hildebrandt@childrens.harvard.edu
  organization: Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA
BackLink https://www.ncbi.nlm.nih.gov/pubmed/38868576$$D View this record in MEDLINE/PubMed
BookMark eNp9UsFuEzEQXaEiWkr_ACFfkLgk2Guvd_cCqqpCK1XQA5ytWe84cXDsYHtD8zN8Kw4pVXvBF4_Gb96M37yX1ZEPHqvqNaNzRpl8v5ov0I82zWta832qnGfVSc2besapqI8excfVWUorSinjnDaif1Ed866TXdPKk-r35V1YI0n4c0KvrV8QO6LP1lhMBIizP9DtiIYpQbZbJFuIFnwm1pOGvyXBEANr6_boXzYviS5x2EBe7mYRHWQciUHIUyyA4ElED45MLkdIYfIjAZMxErzTbhr33b_cXt0yMqLDbINPr6rnBlzCs_v7tPr-6fLbxdXs5uvn64vzm5kWbZ9nHIELw1pWm_JDQaXs2DACFf0w0E4yOjA29AZqKoaGyo6PfGj6VtTQcSO7lp9W1wfeMcBKbaJdQ9ypAFb9TYS4UBCz1Q5VPw6GNQMX2HaC6xqYlIYKSUEXiY0oXB8PXJtpWOOoi5wR3BPSpy_eLtUibFXZoWzrRhaGd_cMMZS9pKzWNml0DjyGKSlOZduzumlYgYoDVMeQUkTz0IdRtbeKWqmDVdTeKupglVL25vGMD0X_jFEAHw4ALKpvLUaVtC0OwdFG1LnIYv_f4Q-XDdTT
Cites_doi 10.1007/s00439-013-1297-0
10.1101/cshperspect.a028191
10.2215/CJN.01280217
10.1038/ki.2015.317
10.1371/journal.pgen.1000353
ContentType Journal Article
Copyright 2023 Chongqing Medical University
2023 The Authors. Publishing services by Elsevier B.V. on behalf of KeAi Communications Co., Ltd. 2023 Chongqing Medical University
Copyright_xml – notice: 2023 Chongqing Medical University
– notice: 2023 The Authors. Publishing services by Elsevier B.V. on behalf of KeAi Communications Co., Ltd. 2023 Chongqing Medical University
DBID 6I.
AAFTH
NPM
AAYXX
CITATION
7X8
5PM
DOA
DOI 10.1016/j.gendis.2023.101111
DatabaseName ScienceDirect Open Access Titles
Elsevier:ScienceDirect:Open Access
PubMed
CrossRef
MEDLINE - Academic
PubMed Central (Full Participant titles)
Directory of Open Access Journals
DatabaseTitle PubMed
CrossRef
MEDLINE - Academic
Database_xml – sequence: 1
  dbid: DOA
  name: DOAJ Directory of Open Access Journals
  url: https://www.doaj.org/
  sourceTypes: Open Website
– sequence: 2
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
EISSN 2352-3042
ExternalDocumentID oai_doaj_org_article_9dbf15b34e7843c2a166f0460ac001f4
10_1016_j_gendis_2023_101111
38868576
S235230422300394X
Genre Journal Article
GroupedDBID 0R~
0SF
4.4
457
53G
5VS
6I.
AACTN
AAEDW
AAFTH
AAIKJ
AALRI
AAXUO
ABMAC
ACGFS
ADBBV
ADEZE
AEXQZ
AFTJW
AGHFR
AITUG
AKRWK
ALMA_UNASSIGNED_HOLDINGS
AMRAJ
AOIJS
BAWUL
BCNDV
DIK
EBS
EJD
FDB
GROUPED_DOAJ
HYE
IPNFZ
IXB
KQ8
M41
NCXOZ
O9-
OK1
RIG
ROL
RPM
SSZ
ADVLN
NPM
AAYXX
CITATION
7X8
5PM
ID FETCH-LOGICAL-c479t-3ea34f1712f054406681bda049bb08610b11b9fa204b50683d3b59742a83f6873
IEDL.DBID RPM
ISSN 2352-3042
2352-4820
IngestDate Tue Oct 22 14:53:47 EDT 2024
Tue Sep 17 21:29:20 EDT 2024
Wed Jul 17 03:01:47 EDT 2024
Thu Aug 22 15:13:49 EDT 2024
Wed Oct 23 09:54:36 EDT 2024
Sat Jun 29 15:30:15 EDT 2024
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 5
Language English
License This is an open access article under the CC BY license.
This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c479t-3ea34f1712f054406681bda049bb08610b11b9fa204b50683d3b59742a83f6873
Notes ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
These authors contributed equally to this work.
ORCID 0000-0003-4872-0093
0000-0002-1269-6899
0009-0005-1725-9152
0000-0002-0578-9456
0000-0003-2952-5030
0000-0001-7628-8926
0000-0002-8942-1973
0000-0002-6772-1983
OpenAccessLink https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11167256/
PMID 38868576
PQID 3067912551
PQPubID 23479
ParticipantIDs doaj_primary_oai_doaj_org_article_9dbf15b34e7843c2a166f0460ac001f4
pubmedcentral_primary_oai_pubmedcentral_nih_gov_11167256
proquest_miscellaneous_3067912551
crossref_primary_10_1016_j_gendis_2023_101111
pubmed_primary_38868576
elsevier_sciencedirect_doi_10_1016_j_gendis_2023_101111
PublicationCentury 2000
PublicationDate 2024-09-01
PublicationDateYYYYMMDD 2024-09-01
PublicationDate_xml – month: 09
  year: 2024
  text: 2024-09-01
  day: 01
PublicationDecade 2020
PublicationPlace Netherlands
PublicationPlace_xml – name: Netherlands
PublicationTitle Genes & diseases
PublicationTitleAlternate Genes Dis
PublicationYear 2024
Publisher Elsevier B.V
Chongqing Medical University
KeAi Communications Co., Ltd
Publisher_xml – name: Elsevier B.V
– name: Chongqing Medical University
– name: KeAi Communications Co., Ltd
References Hildebrandt, Heeringa, Rüschendorf (bib2) 2009; 5
Halbritter, Porath, Diaz (bib4) 2013; 132
Braun, Hildebrandt (bib1) 2017; 9
Braun, Schueler, Halbritter (bib5) 2016; 89
König, Kranz, König (bib3) 2017; 12
Braun (10.1016/j.gendis.2023.101111_bib5) 2016; 89
Halbritter (10.1016/j.gendis.2023.101111_bib4) 2013; 132
Braun (10.1016/j.gendis.2023.101111_bib1) 2017; 9
Hildebrandt (10.1016/j.gendis.2023.101111_bib2) 2009; 5
König (10.1016/j.gendis.2023.101111_bib3) 2017; 12
References_xml – volume: 9
  start-page: a028191
  year: 2017
  ident: bib1
  article-title: Ciliopathies
  publication-title: Cold Spring Harbor Perspect Biol
  contributor:
    fullname: Hildebrandt
– volume: 89
  start-page: 468
  year: 2016
  end-page: 475
  ident: bib5
  article-title: Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
  publication-title: Kidney Int
  contributor:
    fullname: Halbritter
– volume: 132
  start-page: 865
  year: 2013
  end-page: 884
  ident: bib4
  article-title: Identification of 99 novel mutations in a worldwide cohort of 1, 056 patients with a nephronophthisis-related ciliopathy
  publication-title: Hum Genet
  contributor:
    fullname: Diaz
– volume: 5
  year: 2009
  ident: bib2
  article-title: A systematic approach to mapping recessive disease genes in individuals from outbred populations
  publication-title: PLoS Genet
  contributor:
    fullname: Rüschendorf
– volume: 12
  start-page: 1974
  year: 2017
  end-page: 1983
  ident: bib3
  article-title: Phenotypic spectrum of children with nephronophthisis and related ciliopathies
  publication-title: Clin J Am Soc Nephrol
  contributor:
    fullname: König
– volume: 132
  start-page: 865
  issue: 8
  year: 2013
  ident: 10.1016/j.gendis.2023.101111_bib4
  article-title: Identification of 99 novel mutations in a worldwide cohort of 1, 056 patients with a nephronophthisis-related ciliopathy
  publication-title: Hum Genet
  doi: 10.1007/s00439-013-1297-0
  contributor:
    fullname: Halbritter
– volume: 9
  start-page: a028191
  issue: 3
  year: 2017
  ident: 10.1016/j.gendis.2023.101111_bib1
  article-title: Ciliopathies
  publication-title: Cold Spring Harbor Perspect Biol
  doi: 10.1101/cshperspect.a028191
  contributor:
    fullname: Braun
– volume: 12
  start-page: 1974
  issue: 12
  year: 2017
  ident: 10.1016/j.gendis.2023.101111_bib3
  article-title: Phenotypic spectrum of children with nephronophthisis and related ciliopathies
  publication-title: Clin J Am Soc Nephrol
  doi: 10.2215/CJN.01280217
  contributor:
    fullname: König
– volume: 89
  start-page: 468
  issue: 2
  year: 2016
  ident: 10.1016/j.gendis.2023.101111_bib5
  article-title: Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
  publication-title: Kidney Int
  doi: 10.1038/ki.2015.317
  contributor:
    fullname: Braun
– volume: 5
  issue: 1
  year: 2009
  ident: 10.1016/j.gendis.2023.101111_bib2
  article-title: A systematic approach to mapping recessive disease genes in individuals from outbred populations
  publication-title: PLoS Genet
  doi: 10.1371/journal.pgen.1000353
  contributor:
    fullname: Hildebrandt
SSID ssj0001330549
ssib052855635
ssib044737542
Score 2.345306
SourceID doaj
pubmedcentral
proquest
crossref
pubmed
elsevier
SourceType Open Website
Open Access Repository
Aggregation Database
Index Database
Publisher
StartPage 101111
SubjectTerms Rapid Communication
SummonAdditionalLinks – databaseName: Directory of Open Access Journals
  dbid: DOA
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV1Nb9QwELVQD4gL4pvlS4MEx4g4jh3nCKjVCqlVD1TqLbJjWwSWpGp2Uftn-K3M2Em1gUMv3KLEytqeyc579vgNY-8q0RamaGUm61BmpQp1ZpzymWwxVjsR6ramw8nHJ2p9Vn45l-d7pb4oJyzJA6eJ-1A7G7i0ovSVLunFXKlAu3mmxX_YkJRAudwjU3F1BWk6Mp_5rFxM6EKDuI4UugtBtzjni1gUJfsXIelfyPl35uReKDp6wO5PGBI-pr4_ZHd8_4jdPZ52yR-z34dXw08PU5Y0xiboXEoK8iMY2HQ__OYaWrMbo-o3_EK-jBMMXQ9SvIchQFz2oNa0TAstXg9Uuvg6i0dfvIPgoyDoCEMPl556s9tgV0cq0gSx7jj4q3azo8gIJ6frUw5UcSc6-RN2dnT49fM6m-owZG1Z1dtMeCPKwCteBJxURAAKsa4zyC2sRUbEc8u5rYMp8tLKXGnhhCWeUhgtgtKVeMoO-qH3zxlol6uicARLHVLJyqi6MkLn2lkZVBArls0WaS6S3EYz56F9b5IFG7Jgkyy4Yp_IbDdtSSw73kAXaiYXam5zoRWrZqM3E-5IeAJf1d3y829nH2nws6S9FtP7YTc2xMRqBI8S2zxLPnPTSaG10sjzVkwvvGkxiuWTvvsWpb85bZshSn3xP8b9kt3DsZQpY-4VO9he7vxrhFhb-yZ-TX8AZCAlsg
  priority: 102
  providerName: Directory of Open Access Journals
– databaseName: Elsevier Free Content
  dbid: IXB
  link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb5wwELaiHKpeqr67fcmV2iNajB-YYxIlWlVKFKmNtDdkY7ul3UC0LFXyZ_JbO2MgLe2hUm9gDAyewfONPQ9C3ue8ykxWyUQWQSRChSIxTvlEVqCrHQ9FVWBw8umZWl2Ij2u53iNHUywMulWOc_8wp8fZemxZjqO5vKrr5aeMxxVN0G8YYCrWMA9jbk8M4lsf_lpnAYNdRhSM_RO8YYqgi25ewCZXY97ujGMTY2ymoWIi_5mi-huI_ulP-ZuCOnlIHozIkh4MxD8ie755TO6djnvnT8jt8XV76enoOw0ai9ZucBXyHTV0U3_3mxtamb6LucDpD7CiYdhp3VDJP9A20LgYgr1x8ZZWcNxiQeObJAbEeEeDj2lCO9o2dOuRmn4DpHZYuonGauTUX1ebHvUlPTtfnTOKdXii6D8lFyfHn49WyVidIalEXuwS7g0XgeUsCzDAgAsUIGBnwOKwFuwkllrGbBFMlgorU6W54xatl8xoHpTO-TOy37SNf0GodqnKModg1YGBmRtV5IbrVDsrgwp8QZKJI-XVkISjnLzTvpUDB0vkYDlwcEEOkW13fTGFdmxot1_KUYbKwtnApOXC51qgxDKlAm4TmwqkJogFySemlzOJhEfV_3j9u0lGSvhZcQfGNL7tuxLtswIgpYQ-zweZuSOSa600WH8LomfSNPuK-ZWm_hoTgjPcTAPs-vK_SX5F7sOZGJznXpP93bb3bwBt7ezb-Dv9BH0mKQY
  priority: 102
  providerName: Elsevier
Title Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
URI https://dx.doi.org/10.1016/j.gendis.2023.101111
https://www.ncbi.nlm.nih.gov/pubmed/38868576
https://www.proquest.com/docview/3067912551/abstract/
https://pubmed.ncbi.nlm.nih.gov/PMC11167256
https://doaj.org/article/9dbf15b34e7843c2a166f0460ac001f4
Volume 11
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9swDBbaDih6GfZe9gg0YDu6ia2H5eMatMgGJMthBYJdDMmSNm-JXeQxtH9mv3WkbLfNdihQHwLbkR0pJMGP0ieSkPcpKxKdFCISmecRlz6LtJUuEgX4ast8VmS4OXkyleNz_nku5ntEdnthAmm_MOVxtVgeV-WPwK28WBaDjic2mE1GMS4egK8e7JP9lLHdGJ3z9KasK1yLRGESLHEz8wIhvAi4OAH0EXHwgd2eukD8AsHZEjN5JwxvwXFEDplSUgnMTHLLfYUs_zte7H-U-i_Z8pb3OntEHrawk35shveY7LnqCTmctAvrT8mf08t66WhLrAZ3Rkvb8Ijcmmq6KH-5xRUt9HYdEoXT3xBig0xoWVHBPtDa0zBTgq1xZpcWcF5jteOrKOyWcZZ6F3KIrmld0ZXD3mwX0NU11nWioVQ5dZfFYovOlE5n41lMsUhPsItn5Pzs9OtoHLWlG6KCp9kmYk4z7uM0Tjz81wAaJMBjqyEcMQaCqHho4thkXidDbsRQKmaZwdAm0Yp5qVL2nBxUdeVeEqrsUCaJRSRrIfpMtcxSzdRQWSO89KxHok4i-UWToSPvqGs_80aYOQozb4TZIycotuu2mF873KhX3_NWy_LMGh8Lw7hLFUd1jqX0uIasC1Agz3sk7YSet1ClgSDwqvKOn3_X6UgOlozLM7py9XadY_CWAd4U0OZFozPXnezUr0fUjjbtjGL3GzCekC28M5ZX93_0NTmCEfCGWveGHGxWW_cWsNjG9MMcBnx-mp_0yYPpaP7lWz-Y41_ftTO3
link.rule.ids 230,315,733,786,790,870,891,2115,3525,27955,27956,45907,53825,53827
linkProvider National Library of Medicine
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lc9MwENaUMlN6KW8anmIGjk5i62H5CJ12AjSZHNqhN4-exTSxO0nMtPwYfisr2W6bcmAgp8RWEsv7yfuttPoWoXcp0YlMNItY5mhEucsiabiNmAZfbYjLdOY3J48nfHRMP5-wkw3Eu70wIWlfq6Jfzub9svgWcivP53rQ5YkNpuO92C8egK8e3EF3YcAmbD1KpzS9LuwKn1kivAwWu557gSCeBWacAP-IKHjBblddSP0C05nCa3knxB-C1zbaIkJwwbw2yQ0HFnT-1_zYnzz1drrlDf91cB997XrepK2c9euV6uuft0Qh__3WPEA7LaXFH5rzD9GGLR-hrXG7aP8Y_dq_qOYWt0nb4CpxYZocJbvEEs-KMzu7xFrWyyBCjn9A-A72xkWJGXmPK4fDLIxv7WeNsYb3la-kfBmFnTjWYGeDPukSVyVeWH819QxuwtLXjMKhDDq2F3pWe0eNJ9PRNMa-AFAYc0_Q8cH-0d4oastCRJqm2SoiVhLq4jROHFgRCAkH6m0khDpKQYAWD1Ucq8zJZEgVG3JBDFE-bEqkII6LlDxFm2VV2l2EhRnyJDGeJRuIbFPJs1QSMRRGMccd6aGos3V-3qh_5F1a3Pe8gUnuYZI3MOmhjx4QV229dnc4UC1O89ZMeWaUi5ki1KaC-qESc-78-rTUAE1Heyjt4JS3NKihN_BTxV_-_m2HvhyeEn7pR5a2qpe5Dwwz4LIM2jxr0Hh1kR2we0is4XStF-tnAH1BibxD2_P__-obdG90ND7MDz9NvrxA29Ab2qTwvUSbq0VtXwHnW6nXYYD_BmE2Ui0
linkToPdf http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3JbtswECXaFDBy6b64Kwu0R9mWuIg6tmkMd7HhQwME6EHg2qqxJcO2iqQf02_tkJKSOD0UiE-yTNmi5tHzhnycQehNSnQiE80iljkaUe6ySBpuI6bBVxviMp35zcnTGZ8c0U_H7LhVVW5aWWWpVTEoF8tBWfwI2srVUg87ndhwPj2I_eIB-OrhyrjhTXQLBm2S7kbqlKYXxV3hPUuET4XFLuZfIJBngR0nwEEiCp6w21kX5F9gPlP4fN4J8afgtY96RAgumM9PcsmJhVz_O77sX656VXJ5yYeN76BvXe8b6crJoN6qgf59JTHk9R7PXXS7pbb4XdPmHrphy_uoN20X7x-gP4en1dLiVrwNLhMXptEq2Q2WeFGc2MUZ1rLehGTk-BeE8WB3XJSYkbe4cjjMxvjWfvYYaziufEXlsyjsyLEGOxvylG5wVeK19XdTL-BBbHztKBzKoWN7qhe1d9h4Np_MY-wLAYWx9xAdjQ-_HkyitjxEpGmabSNiJaEuTuPEgSWBmHCg4EZCyKMUBGrxSMWxypxMRlSxERfEEOXDp0QK4rhIySO0V1alfYKwMCOeJMazZQMRbip5lkoiRsIo5rgjfRR19s5XTRaQvJPH_cwbqOQeKnkDlT5670Fx3tbn8A4nqvX3vDVVnhnlYqYItamgfsjEnDu_Ti01wNPRPko7SOUtHWpoDnxV8Z-ff90hMId_C78EJEtb1ZvcB4gZcFoGbR43iDy_yQ7cfSR2sLrTi91PAIEhI3mHuKfXv_QV6s0_jPMvH2efn6F96AxtlHzP0d52XdsXQP226mUY438B5-lUrQ
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Exome+sequencing+identifies+a+likely+causative+variant+in+53%25+of+families+with+ciliopathy-related+features+on+renal+ultrasound+after+excluding+NPHP1+deletions&rft.jtitle=Genes+%26+diseases&rft.au=Deutsch%2C+Konstantin&rft.au=Kl%C3%A4mbt%2C+Verena&rft.au=Kitzler%2C+Thomas+M&rft.au=Jobst-Schwan%2C+Tilman&rft.date=2024-09-01&rft.issn=2352-3042&rft.eissn=2352-3042&rft.volume=11&rft.issue=5&rft.spage=101111&rft_id=info:doi/10.1016%2Fj.gendis.2023.101111&rft.externalDBID=NO_FULL_TEXT
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=2352-3042&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=2352-3042&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=2352-3042&client=summon