Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT | Zendy

Steve Seltzsam | Zendy; Chunyan Wang | Zendy; Bixia Zheng | Zendy; Nina Mann | Zendy; Dervla M. Connaughton | Zendy; ChenHan Wilfred Wu | Zendy; Sophia Schneider | Zendy; Luca Schierbaum | Zendy; Franziska Kause | Zendy; Caroline M. Kolvenbach | Zendy; Makiko Nakayama | Zendy; Rufeng Dai | Zendy; Isabel Ottlewski | Zendy; Ronen Schneider | Zendy; Konstantin Deutsch | Zendy; Florian Buerger | Zendy; Verena Klämbt | Zendy; Youying Mao | Zendy; Ana C. Onuchic-Whitford | Zendy; Camille NicolasFrank | Zendy; Kirollos Yousef | Zendy; Dalia Pantel | Zendy; Ethan Lai | Zendy; Daanya Salmanullah | Zendy; Amar J. Majmundar | Zendy; Stuart B. Bauer | Zendy; Nancy Rodig | Zendy; Michael J.G. Somers | Zendy; Avram Z. Traum | Zendy; Deborah R. Stein | Zendy; Ankana Daga | Zendy; Michelle A. Baum | Zendy; Ghaleb H. Daouk | Zendy; Velibor Tasić | Zendy; Hazem S. Awad | Zendy; Loai Eid | Zendy; Sherif El Desoky | Zendy; Mohammed Shalaby | Zendy; Jameela A. Kari | Zendy; Hanan Fathy | Zendy; Neveen A. Soliman | Zendy; Shrikant Mane | Zendy; Shirlee Shril | Zendy; Michael A. Ferguson | Zendy; Friedhelm Hildebrandt | Zendy

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Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

Author(s) -

Steve Seltzsam,

Chunyan Wang,

Bixia Zheng,

Nina Mann,

Dervla M. Connaughton,

ChenHan Wilfred Wu,

Sophia Schneider,

Luca Schierbaum,

Franziska Kause,

Caroline M. Kolvenbach,

Makiko Nakayama,

Rufeng Dai,

Isabel Ottlewski,

Ronen Schneider,

Konstantin Deutsch,

Florian Buerger,

Verena Klämbt,

Youying Mao,

Ana C. Onuchic-Whitford,

Camille NicolasFrank,

Kirollos Yousef,

Dalia Pantel,

Ethan Lai,

Daanya Salmanullah,

Amar J. Majmundar,

Stuart B. Bauer,

Nancy Rodig,

Michael J.G. Somers,

Avram Z. Traum,

Deborah R. Stein,

Ankana Daga,

Michelle A. Baum,

Ghaleb H. Daouk,

Velibor Tasić,

Hazem S. Awad,

Loai Eid,

Sherif El Desoky,

Mohammed Shalaby,

Jameela A. Kari,

Hanan Fathy,

Neveen A. Soliman,

Shrikant Mane,

Shirlee Shril,

Michael A. Ferguson,

Friedhelm Hildebrandt

Publication year - 2021

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1016/j.gim.2021.09.010

Subject(s) - exome sequencing , phenotype , disease , allele , genotype , medicine , genetics , biology , gene , pathology

Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic causes of isolated or syndromic CAKUT are known. However, syndromic features may be overlooked when the initial clinical diagnosis of CAKUT is made. We hypothesized that the yield of a molecular genetic diagnosis by exome sequencing (ES) can be increased by applying reverse phenotyping, by re-examining the case for signs/symptoms of the suspected clinical syndrome that results from the genetic variant detected by ES.

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