Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome | Zendy

Jillian K. Warejko | Zendy; Weizhen Tan | Zendy; Ankana Daga | Zendy; David Schapiro | Zendy; Jennifer A. Lawson | Zendy; Shirlee Shril | Zendy; Svjetlana Lovric | Zendy; Shazia Ashraf | Zendy; Jia Rao | Zendy; Tobias Hermle | Zendy; Tilman JobstSchwan | Zendy; Eugen Widmeier | Zendy; Amar J. Majmundar | Zendy; Ronen Schneider | Zendy; Heon Yung Gee | Zendy; Johanna Magdalena Schmidt | Zendy; Asaf Vivante | Zendy; Amelie T. van der Ven | Zendy; Hadas Ityel | Zendy; Jing Chen | Zendy; Carolin E. Sadowski | Zendy; Stefan Kohl | Zendy; Werner L. Pabst | Zendy; Makiko Nakayama | Zendy; Michael J.G. Somers | Zendy; Nancy Rodig | Zendy; Ghaleb H. Daouk | Zendy; Michelle A. Baum | Zendy; Deborah R. Stein | Zendy; Michael A. Ferguson | Zendy; Avram Z. Traum | Zendy; Neveen A. Soliman | Zendy; Jameela A. Kari | Zendy; Sherif El Desoky | Zendy; Hanan Fathy | Zendy; Martin Zenker | Zendy; Sevcan A. Bakkaloğlu | Zendy; Dominik Müller | Zendy; Aytül Noyan | Zendy; Fatih Özaltın | Zendy; Melissa A. Cadnapaphornchai | Zendy; Seema Hashmi | Zendy; Jeffrey Hopcian | Zendy; Jeffrey B. Kopp | Zendy; Nadine Benador | Zendy; Detlef Böckenhauer | Zendy; Radovan Bogdanović | Zendy; Nataša Stajić | Zendy; Gil Chernin | Zendy; Robert B. Ettenger | Zendy; Henry Fehrenbach | Zendy; Markus J. Kemper | Zendy; Reyner Loza Munárriz | Zendy; Ľudmila Podracká | Zendy; Rainer Büscher | Zendy; Erkin Serdaroğlu | Zendy; Velibor Tasić | Zendy; Shrikant Mane | Zendy; Richard P. Lifton | Zendy; Daniela A. Braun | Zendy; Friedhelm Hildebrandt | Zendy

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Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

Author(s) -

Jillian K. Warejko,

Weizhen Tan,

Ankana Daga,

David Schapiro,

Jennifer A. Lawson,

Shirlee Shril,

Svjetlana Lovric,

Shazia Ashraf,

Jia Rao,

Tobias Hermle,

Tilman JobstSchwan,

Eugen Widmeier,

Amar J. Majmundar,

Ronen Schneider,

Heon Yung Gee,

Johanna Magdalena Schmidt,

Asaf Vivante,

Amelie T. van der Ven,

Hadas Ityel,

Jing Chen,

Carolin E. Sadowski,

Stefan Kohl,

Werner L. Pabst,

Makiko Nakayama,

Michael J.G. Somers,

Nancy Rodig,

Ghaleb H. Daouk,

Michelle A. Baum,

Deborah R. Stein,

Michael A. Ferguson,

Avram Z. Traum,

Neveen A. Soliman,

Jameela A. Kari,

Sherif El Desoky,

Hanan Fathy,

Martin Zenker,

Sevcan A. Bakkaloğlu,

Dominik Müller,

Aytül Noyan,

Fatih Özaltın,

Melissa A. Cadnapaphornchai,

Seema Hashmi,

Jeffrey Hopcian,

Jeffrey B. Kopp,

Nadine Benador,

Detlef Böckenhauer,

Radovan Bogdanović,

Nataša Stajić,

Gil Chernin,

Robert B. Ettenger,

Henry Fehrenbach,

Markus J. Kemper,

Reyner Loza Munárriz,

Ľudmila Podracká,

Rainer Büscher,

Erkin Serdaroğlu,

Velibor Tasić,

Shrikant Mane,

Richard P. Lifton,

Daniela A. Braun,

Friedhelm Hildebrandt

Publication year - 2017

Publication title -

clinical journal of the american society of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.755

H-Index - 151

eISSN - 1555-905X

pISSN - 1555-9041

DOI - 10.2215/cjn.04120417

Subject(s) - nephrotic syndrome , medicine , exome sequencing , phenocopy , mutation , genetics , gene , biology , phenotype

Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with whole exome sequencing. We employed whole exome sequencing to detect monogenic causes of steroid-resistant nephrotic syndrome in an international cohort of 300 families.

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