Literature DB >> 35373060

Whole-Exome Sequencing Application for Genetic Diagnosis of Kidney Diseases: A Study from Southwest of Iran.

Mina Zamani1,2, Tahereh Seifi1,2, Sahar Sedighzadeh1,2, Samira Negahdari2, Jawaher Zeighami2, Alireza Sedaghat2,3, Tahereh Yadegari2, Alihossein Saberi2,4, Mohammad Hamid2,5, Gholamreza Shariati2,4, Hamid Galehdari1.   

Abstract

Entities:  

Keywords:  Basic Science; Genetics; Iran; Kidney Diseases; Pathogenic variants; Whole-Exome Sequencing; genetic diagnosis

Mesh：

Year:  2021        PMID： 35373060      PMCID： PMC8791347          DOI： 10.34067/KID.0006902020

Source DB:  PubMed          Journal:  Kidney360        ISSN： 2641-7650


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  27 in total

Review 1.  Molecular diagnostics for autosomal dominant polycystic kidney disease.

Authors:  Peter C Harris; Sandro Rossetti
Journal:  Nat Rev Nephrol       Date:  2010-02-23       Impact factor: 28.314

2.  The Impact of Whole-Exome Sequencing on Kidney Disease Ontology: The Tip of the Iceberg?

Authors:  Abdallah S Geara; Staci Kallish; Jonathan J Hogan
Journal:  Am J Kidney Dis       Date:  2019-04-23       Impact factor: 8.860

Review 3.  Tubulointerstitial nephritis: diagnosis, treatment, and monitoring.

Authors:  Emily Joyce; Paulina Glasner; Sarangarajan Ranganathan; Agnieszka Swiatecka-Urban
Journal:  Pediatr Nephrol       Date:  2016-05-07       Impact factor: 3.714

4.  Monogenic causes of chronic kidney disease in adults.

Authors:  Dervla M Connaughton; Claire Kennedy; Shirlee Shril; Nina Mann; Susan L Murray; Patrick A Williams; Eoin Conlon; Makiko Nakayama; Amelie T van der Ven; Hadas Ityel; Franziska Kause; Caroline M Kolvenbach; Rufeng Dai; Asaf Vivante; Daniela A Braun; Ronen Schneider; Thomas M Kitzler; Brona Moloney; Conor P Moran; John S Smyth; Alan Kennedy; Katherine Benson; Caragh Stapleton; Mark Denton; Colm Magee; Conall M O'Seaghdha; William D Plant; Matthew D Griffin; Atif Awan; Clodagh Sweeney; Shrikant M Mane; Richard P Lifton; Brenda Griffin; Sean Leavey; Liam Casserly; Declan G de Freitas; John Holian; Anthony Dorman; Brendan Doyle; Peter J Lavin; Mark A Little; Peter J Conlon; Friedhelm Hildebrandt
Journal:  Kidney Int       Date:  2019-02-14       Impact factor: 10.612

5.  Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.

Authors:  Lisa M Guay-Woodford; John J Bissler; Michael C Braun; Detlef Bockenhauer; Melissa A Cadnapaphornchai; Katherine M Dell; Larissa Kerecuk; Max C Liebau; Maria H Alonso-Peclet; Benjamin Shneider; Sukru Emre; Theo Heller; Binita M Kamath; Karen F Murray; Kenneth Moise; Eric E Eichenwald; Jacquelyn Evans; Roberta L Keller; Louise Wilkins-Haug; Carsten Bergmann; Meral Gunay-Aygun; Stephen R Hooper; Kristina K Hardy; Erum A Hartung; Randi Streisand; Ronald Perrone; Marva Moxey-Mims
Journal:  J Pediatr       Date:  2014-07-09       Impact factor: 4.406

6.  Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.

Authors:  Atousa Hafizi; Saeid Reza Khatami; Hamid Galehdari; Gholamreza Shariati; Ali Hossein Saberi; Mohammad Hamid
Journal:  Iran Biomed J       Date:  2014-07

7.  A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.

Authors:  Hamad Ali; Naser Hussain; Medhat Naim; Mohamed Zayed; Fahd Al-Mulla; Elijah O Kehinde; Lauren M Seaburg; Jamie L Sundsbak; Peter C Harris
Journal:  BMC Nephrol       Date:  2015-03-01       Impact factor: 2.388

8.  Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Authors:  Daniel Trujillano; Gemma Bullich; Stephan Ossowski; José Ballarín; Roser Torra; Xavier Estivill; Elisabet Ars
Journal:  Mol Genet Genomic Med       Date:  2014-05-23       Impact factor: 2.183

9.  PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.

Authors:  Hamad Ali; Fahd Al-Mulla; Naser Hussain; Medhat Naim; Akram M Asbeutah; Ali AlSahow; Mohamed Abu-Farha; Jehad Abubaker; Ashraf Al Madhoun; Sajjad Ahmad; Peter C Harris
Journal:  Sci Rep       Date:  2019-03-11       Impact factor: 4.379

10.  Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

Authors:  Hee Gyung Kang; Hyun Kyung Lee; Yo Han Ahn; Je-Gun Joung; Jaeyong Nam; Nayoung K D Kim; Jung Min Ko; Min Hyun Cho; Jae Il Shin; Joon Kim; Hye Won Park; Young Seo Park; Il-Soo Ha; Woo Yeong Chung; Dae-Yeol Lee; Su Young Kim; Woong Yang Park; Hae Il Cheong
Journal:  Exp Mol Med       Date:  2016-08-05       Impact factor: 8.718
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