Literature DB >> 34327334

Genetic Analysis in Kidney Disease: Advancing Clinical Diagnosis and Research Discovery.

Whitney Besse1.   

Abstract

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Year:  2020        PMID： 34327334      PMCID： PMC8317592          DOI： 10.34067/kid.0003632020

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


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  7 in total

1.  Personalized medicine in chronic kidney disease by detection of monogenic mutations.

Authors:  Dervla M Connaughton; Friedhelm Hildebrandt
Journal:  Nephrol Dial Transplant       Date:  2020-03-01       Impact factor: 5.992

2.  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

3.  Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Authors:  Murim Choi; Ute I Scholl; Weizhen Ji; Tiewen Liu; Irina R Tikhonova; Paul Zumbo; Ahmet Nayir; Ayşin Bakkaloğlu; Seza Ozen; Sami Sanjad; Carol Nelson-Williams; Anita Farhi; Shrikant Mane; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2009-10-27       Impact factor: 11.205

4.  Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.

Authors:  Fengxiao Bu; Yuzhou Zhang; Kai Wang; Nicolo Ghiringhelli Borsa; Michael B Jones; Amanda O Taylor; Erika Takanami; Nicole C Meyer; Kathy Frees; Christie P Thomas; Carla Nester; Richard J H Smith
Journal:  J Am Soc Nephrol       Date:  2018-10-30       Impact factor: 10.121

5.  Diagnostic Utility of Exome Sequencing for Kidney Disease.

Authors:  Emily E Groopman; Maddalena Marasa; Sophia Cameron-Christie; Slavé Petrovski; Vimla S Aggarwal; Hila Milo-Rasouly; Yifu Li; Junying Zhang; Jordan Nestor; Priya Krithivasan; Wan Yee Lam; Adele Mitrotti; Stacy Piva; Byum H Kil; Debanjana Chatterjee; Rachel Reingold; Drew Bradbury; Michael DiVecchia; Holly Snyder; Xueru Mu; Karla Mehl; Olivia Balderes; David A Fasel; Chunhua Weng; Jai Radhakrishnan; Pietro Canetta; Gerald B Appel; Andrew S Bomback; Wooin Ahn; Natalie S Uy; Shumyle Alam; David J Cohen; Russell J Crew; Geoffrey K Dube; Maya K Rao; Sitharthan Kamalakaran; Brett Copeland; Zhong Ren; Joshua Bridgers; Colin D Malone; Caroline M Mebane; Neha Dagaonkar; Bengt C Fellström; Carolina Haefliger; Sumit Mohan; Simone Sanna-Cherchi; Krzysztof Kiryluk; Jan Fleckner; Ruth March; Adam Platt; David B Goldstein; Ali G Gharavi
Journal:  N Engl J Med       Date:  2018-12-26       Impact factor: 176.079

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

7.  The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia.

Authors:  Andrew Mallett; Chirag Patel; Anne Salisbury; Zaimin Wang; Helen Healy; Wendy Hoy
Journal:  Orphanet J Rare Dis       Date:  2014-06-30       Impact factor: 4.123
  7 in total
  2 in total

Review 1.  A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology.

Authors:  Abraham W Aron; Neera K Dahl; Whitney Besse
Journal:  Kidney360       Date:  2022-07-08

Review 2.  Organs-on-chip technology: a tool to tackle genetic kidney diseases.

Authors:  Marta G Valverde; João Faria; Elena Sendino Garví; Manoe J Janssen; Rosalinde Masereeuw; Silvia M Mihăilă
Journal:  Pediatr Nephrol       Date:  2022-03-14       Impact factor: 3.651
  2 in total

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