Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study-Reference-Cited by-同舟云学术

Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study

Published:2022-01-10 Issue:8 Volume:37 Page:1811-1836
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Sinha Rajiv,Pradhan Subal,Banerjee Sushmita,Jahan Afsana,Akhtar Shakil,Pahari Amitava,Raut Sumantra,Parakh Prince,Basu Surupa,Srivastava Priyanka,Nayak Snehamayee,Thenral S. G.,Ramprasad V.,Ashton Emma,Bockenhauer Detlef,Mandal Kausik^ORCID

Funder

medgenome labs private limited

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

https://link.springer.com/content/pdf/10.1007/s00467-021-05388-y.pdf

Reference41 articles.

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2. Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D (2021) Inherited tubulopathies of the kidney: insights from genetics. Clin J Am Soc Nephrol 16:620–630. https://doi.org/10.2215/CJN.14481119

3. Hay E, Cullup T, Barnicoat A (2021) A practical approach to the genomics of kidney disorders. Pediatr Nephrol. https://doi.org/10.1007/s00467-021-04995-z

4. Iancu D, Ashton E (2020) Inherited renal tubulopathies-challenges and controversies. Genes (Basel) 11:277. https://doi.org/10.3390/genes11030277

5. Gulati A, Somlo S (2018) Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology. Pediatr Nephrol 33:745–761. https://doi.org/10.1007/s00467-017-3698-0

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