Literature DB >> 30904063

Expanding opportunities and emerging challenges: broadening the scope of genetic testing in nephrology.

Emily E Groopman1, Ali G Gharavi2.   

Abstract

Massively parallel sequencing technologies such as exome sequencing are increasingly applied across medicine. Connaughton et al. report a high diagnostic yield of exome sequencing among adults with hereditary nephropathy or nephropathy of unknown cause. Their findings support broader use of genomic sequencing in nephrology and highlight key associated questions, including how to identify those patients for whom testing is indicated, pinpoint pathogenic variants, and balance the resultant health care benefits and clinical follow-up burden.
Copyright © 2019 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

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Year:  2019        PMID: 30904063      PMCID: PMC7780545          DOI: 10.1016/j.kint.2018.12.032

Source DB:  PubMed          Journal:  Kidney Int        ISSN: 0085-2538            Impact factor:   10.612


  9 in total

Review 1.  Exploring the genetic basis of early-onset chronic kidney disease.

Authors:  Asaf Vivante; Friedhelm Hildebrandt
Journal:  Nat Rev Nephrol       Date:  2016-01-11       Impact factor: 28.314

Review 2.  Rare inherited kidney diseases: challenges, opportunities, and perspectives.

Authors:  Olivier Devuyst; Nine V A M Knoers; Giuseppe Remuzzi; Franz Schaefer
Journal:  Lancet       Date:  2014-05-24       Impact factor: 79.321

3.  Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Authors:  Sneh Lata; Maddalena Marasa; Yifu Li; David A Fasel; Emily Groopman; Vaidehi Jobanputra; Hila Rasouly; Adele Mitrotti; Rik Westland; Miguel Verbitsky; Jordan Nestor; Lindsey M Slater; Vivette D'Agati; Marcin Zaniew; Anna Materna-Kiryluk; Francesca Lugani; Gianluca Caridi; Luca Rampoldi; Aditya Mattoo; Chad A Newton; Maya K Rao; Jai Radhakrishnan; Wooin Ahn; Pietro A Canetta; Andrew S Bomback; Gerald B Appel; Corinne Antignac; Glen S Markowitz; Christine K Garcia; Krzysztof Kiryluk; Simone Sanna-Cherchi; Ali G Gharavi
Journal:  Ann Intern Med       Date:  2017-12-05       Impact factor: 25.391

4.  Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Authors:  Andrew J Mallett; Hugh J McCarthy; Gladys Ho; Katherine Holman; Elizabeth Farnsworth; Chirag Patel; Jeffery T Fletcher; Amali Mallawaarachchi; Catherine Quinlan; Bruce Bennetts; Stephen I Alexander
Journal:  Kidney Int       Date:  2017-08-23       Impact factor: 10.612

5.  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

6.  Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

Authors:  Jennifer E Posey; Tamar Harel; Pengfei Liu; Jill A Rosenfeld; Regis A James; Zeynep H Coban Akdemir; Magdalena Walkiewicz; Weimin Bi; Rui Xiao; Yan Ding; Fan Xia; Arthur L Beaudet; Donna M Muzny; Richard A Gibbs; Eric Boerwinkle; Christine M Eng; V Reid Sutton; Chad A Shaw; Sharon E Plon; Yaping Yang; James R Lupski
Journal:  N Engl J Med       Date:  2016-12-07       Impact factor: 91.245

7.  The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.

Authors:  Hila Milo Rasouly; Emily E Groopman; Reuben Heyman-Kantor; David A Fasel; Adele Mitrotti; Rik Westland; Louise Bier; Chunhua Weng; Zhong Ren; Brett Copeland; Priya Krithivasan; Wendy K Chung; Simone Sanna-Cherchi; David B Goldstein; Ali G Gharavi
Journal:  Ann Intern Med       Date:  2018-11-27       Impact factor: 51.598

8.  A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

Authors:  Julianne M O'Daniel; Heather M McLaughlin; Laura M Amendola; Sherri J Bale; Jonathan S Berg; David Bick; Kevin M Bowling; Elizabeth C Chao; Wendy K Chung; Laura K Conlin; Gregory M Cooper; Soma Das; Joshua L Deignan; Michael O Dorschner; James P Evans; Arezou A Ghazani; Katrina A Goddard; Michele Gornick; Kelly D Farwell Hagman; Tina Hambuch; Madhuri Hegde; Lucia A Hindorff; Ingrid A Holm; Gail P Jarvik; Amy Knight Johnson; Lindsey Mighion; Massimo Morra; Sharon E Plon; Sumit Punj; C Sue Richards; Avni Santani; Brian H Shirts; Nancy B Spinner; Sha Tang; Karen E Weck; Susan M Wolf; Yaping Yang; Heidi L Rehm
Journal:  Genet Med       Date:  2016-11-03       Impact factor: 8.822

9.  Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.

Authors:  Andrew F Malone; Paul J Phelan; Gentzon Hall; Umran Cetincelik; Alison Homstad; Andrea S Alonso; Ruiji Jiang; Thomas B Lindsey; Guanghong Wu; Matthew A Sparks; Stephen R Smith; Nicholas J A Webb; Philip A Kalra; Adebowale A Adeyemo; Andrey S Shaw; Peter J Conlon; J Charles Jennette; David N Howell; Michelle P Winn; Rasheed A Gbadegesin
Journal:  Kidney Int       Date:  2014-09-17       Impact factor: 10.612

  9 in total
  4 in total

1.  From Theory to Reality: Establishing a Successful Kidney Genetics Clinic in the Outpatient Setting.

Authors:  Andrew L Lundquist; Renee C Pelletier; Courtney E Leonard; Winfred W Williams; Katrina A Armstrong; Heidi L Rehm; Eugene P Rhee
Journal:  Kidney360       Date:  2020-08-12

2.  Evaluation of Genetic Kidney Diseases in Living Donor Kidney Transplantation: Towards Precision Genomic Medicine in Donor Risk Assessment.

Authors:  Yasar Caliskan; Brian Lee; Adrian Whelan; Fadee Abualrub; Krista L Lentine; Arksarapuk Jittirat
Journal:  Curr Transplant Rep       Date:  2022-03-16

Review 3.  Emerging Role of Clinical Genetics in CKD.

Authors:  Prasad Devarajan; Glenn M Chertow; Katalin Susztak; Adeera Levin; Rajiv Agarwal; Peter Stenvinkel; Arlene B Chapman; Bradley A Warady
Journal:  Kidney Med       Date:  2022-02-11

Review 4.  Inherited Renal Tubulopathies-Challenges and Controversies.

Authors:  Daniela Iancu; Emma Ashton
Journal:  Genes (Basel)       Date:  2020-03-05       Impact factor: 4.096

  4 in total

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