Literature DB >> 31116939

Diagnostic Utility of Exome Sequencing for Kidney Disease. Reply.

Emily Groopman1, David Goldstein1, Ali Gharavi1.   

Abstract

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Year:  2019        PMID： 31116939     DOI： 10.1056/NEJMc1903250

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  9 in total

1.  A pedigree with COL4A5 mutation presenting with Alport syndrome and focal segmental glomerulosclerosis lesions: a case report.

Authors:  Honghong Zou; Li Zhu; Rong Xu; Sufang Shi; Suxia Wang; Fude Zhou; Hong Zhang; Minghui Zhao
Journal:  Am J Transl Res       Date:  2022-08-15       Impact factor: 3.940

Review 2.  Addressing the routine failure to clinically identify monogenic cases of common disease.

Authors:  Michael F Murray; Muin J Khoury; Noura S Abul-Husn
Journal:  Genome Med       Date:  2022-06-07       Impact factor: 15.266

3.  Bedside to bench Alport syndrome research: are human urine-derived podocytes the answer?†.

Authors:  Jin-Ju Kim; Alessia Fornoni
Journal:  J Pathol       Date:  2020-10-23       Impact factor: 7.996

4.  Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.

Authors:  Cole Shulman; Emerald Liang; Misato Kamura; Khalil Udwan; Tony Yao; Daniel Cattran; Heather Reich; Michelle Hladunewich; York Pei; Judy Savige; Andrew D Paterson; Mary Ann Suico; Hirofumi Kai; Moumita Barua
Journal:  Kidney Med       Date:  2021-02-10

5.  Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family.

Authors:  Yanglin Hu; Wei Li; Lulu Tian; Shuai Fu; Yonglong Min; Jia Liu; Fei Xiong
Journal:  Front Genet       Date:  2022-03-29       Impact factor: 4.599

6.  Gain-of-function, focal segmental glomerulosclerosis Trpc6 mutation minimally affects susceptibility to renal injury in several mouse models.

Authors:  Brittney J Brown; Kimber L Boekell; Brian R Stotter; Brianna E Talbot; Johannes S Schlondorff
Journal:  PLoS One       Date:  2022-08-01       Impact factor: 3.752

Review 7.  The glomerular filtration barrier: a structural target for novel kidney therapies.

Authors:  Ilse S Daehn; Jeremy S Duffield
Journal:  Nat Rev Drug Discov       Date:  2021-07-14       Impact factor: 84.694

8.  LAMA2 and LOXL4 are candidate FSGS genes.

Authors:  Poornima Vijayan; Saidah Hack; Tony Yao; Mohammad Azfar Qureshi; Andrew D Paterson; Rohan John; Bernard Davenport; Rachel Lennon; York Pei; Moumita Barua
Journal:  BMC Nephrol       Date:  2021-09-26       Impact factor: 2.388

9.  Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.

Authors:  Kira J Stanzick; Yong Li; Pascal Schlosser; Mathias Gorski; Matthias Wuttke; Laurent F Thomas; Humaira Rasheed; Bryce X Rowan; Sarah E Graham; Brett R Vanderweff; Snehal B Patil; Cassiane Robinson-Cohen; John M Gaziano; Christopher J O'Donnell; Cristen J Willer; Stein Hallan; Bjørn Olav Åsvold; Andre Gessner; Adriana M Hung; Cristian Pattaro; Anna Köttgen; Klaus J Stark; Iris M Heid; Thomas W Winkler
Journal:  Nat Commun       Date:  2021-07-16       Impact factor: 14.919
  9 in total

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