Literature DB >> 26795916

A Custom Targeted Next-Generation Sequencing Gene Panel for the Diagnosis of Genetic Nephropathies.

Christopher P Larsen1, Tim Durfee2, Jon D Wilson3, Marjorie L Beggs3.   

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Year:  2016        PMID： 26795916     DOI： 10.1053/j.ajkd.2015.11.023

Source DB:  PubMed          Journal:  Am J Kidney Dis        ISSN： 0272-6386            Impact factor:   8.860


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  5 in total

1.  Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.

Authors:  Andrew F Malone; Steven D Funk; Tarek Alhamad; Jeffrey H Miner
Journal:  Pediatr Nephrol       Date:  2016-12-24       Impact factor: 3.714

2.  Transcriptomics and machine learning predict diagnosis and severity of growth hormone deficiency.

Authors:  Philip G Murray; Adam Stevens; Chiara De Leonibus; Ekaterina Koledova; Pierre Chatelain; Peter E Clayton
Journal:  JCI Insight       Date:  2018-04-05

3.  Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy.

Authors:  Christopher P Larsen; Jon D Wilson; Alejandro Best-Rocha; Marjorie L Beggs; Randolph A Hennigar
Journal:  Mod Pathol       Date:  2017-11-17       Impact factor: 7.842

Review 4.  Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle.

Authors:  Marisa Cañadas-Garre; Kerry Anderson; Ruaidhri Cappa; Ryan Skelly; Laura Jane Smyth; Amy Jayne McKnight; Alexander Peter Maxwell
Journal:  Front Genet       Date:  2019-05-31       Impact factor: 4.599

Review 5.  Formins in Human Disease.

Authors:  Leticia Labat-de-Hoz; Miguel A Alonso
Journal:  Cells       Date:  2021-09-27       Impact factor: 6.600
  5 in total

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