Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
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Published in | Genes & diseases Vol. 11; no. 5; p. 101111 |
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Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Netherlands
Elsevier B.V
01.09.2024
Chongqing Medical University KeAi Communications Co., Ltd |
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ArticleNumber | 101111 |
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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 |
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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 |
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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 |
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Title | Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions |
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