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Basic Research
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Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing

Zhengmao Zhang, Hanwen Bai, Jon Blumenfeld, Andrew B. Ramnauth, Irina Barash, Martin Prince, Adrian Y. Tan, Alber Michaeel, Genyan Liu, Ines Chicos, Lior Rennert, Stavros Giannakopoulos, Karen Larbi, Stuart Hughes, Steven P. Salvatore, Brian D. Robinson, Sandip Kapur and Hanna Rennert
JASN December 2021, 32 (12) 3114-3129; DOI: https://doi.org/10.1681/ASN.2021050690
Zhengmao Zhang
1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, New York
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Hanwen Bai
2Vertex Pharmaceuticals Inc., Boston, Massachusetts
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Jon Blumenfeld
3Department of Medicine, Weill Cornell Medicine, New York, New York
4The Rogosin Institute, New York, New York
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Andrew B. Ramnauth
1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, New York
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Irina Barash
3Department of Medicine, Weill Cornell Medicine, New York, New York
4The Rogosin Institute, New York, New York
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Martin Prince
5Department of Radiology, Weill Cornell Medicine, New York, New York
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Adrian Y. Tan
1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, New York
3Department of Medicine, Weill Cornell Medicine, New York, New York
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Alber Michaeel
1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, New York
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Genyan Liu
1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, New York
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Ines Chicos
4The Rogosin Institute, New York, New York
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Lior Rennert
6Department of Public Health Sciences, Clemson University, Clemson, South Carolina
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Stavros Giannakopoulos
7Vertex Pharmaceuticals Inc., Oxford, United Kingdom
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Karen Larbi
7Vertex Pharmaceuticals Inc., Oxford, United Kingdom
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Stuart Hughes
7Vertex Pharmaceuticals Inc., Oxford, United Kingdom
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Steven P. Salvatore
1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, New York
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Brian D. Robinson
1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, New York
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Sandip Kapur
8Department of Surgery, Weill Cornell Medicine, New York, New York
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Hanna Rennert
1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, New York
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Article Information

vol. 32 no. 12 3114-3129
DOI 
https://doi.org/10.1681/ASN.2021050690
PubMed 
34716216

Published By 
American Society of Nephrology
Print ISSN 
1046-6673
Online ISSN 
1533-3450
History 
  • Received for publication May 25, 2021
  • Accepted for publication September 3, 2021
  • Published online November 30, 2021.

Article Versions

  • Earlier version (October 29, 2021 - 09:20).
  • Earlier version (November 12, 2021 - 06:24).
  • You are viewing the most recent version of this article.
Copyright & Usage 
Copyright © 2021 by the American Society of Nephrology

Author Information

  1. Zhengmao Zhang1,
  2. Hanwen Bai2,
  3. Jon Blumenfeld3,4,
  4. Andrew B. Ramnauth1,
  5. Irina Barash3,4,
  6. Martin Prince5,
  7. Adrian Y. Tan1,3,
  8. Alber Michaeel1,
  9. Genyan Liu1,
  10. Ines Chicos4,
  11. Lior Rennert6,
  12. Stavros Giannakopoulos7,
  13. Karen Larbi7,
  14. Stuart Hughes7,
  15. Steven P. Salvatore1,
  16. Brian D. Robinson1,
  17. Sandip Kapur8 and
  18. Hanna Rennert1
  1. 1Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, New York
  2. 2Vertex Pharmaceuticals Inc., Boston, Massachusetts
  3. 3Department of Medicine, Weill Cornell Medicine, New York, New York
  4. 4The Rogosin Institute, New York, New York
  5. 5Department of Radiology, Weill Cornell Medicine, New York, New York
  6. 6Department of Public Health Sciences, Clemson University, Clemson, South Carolina
  7. 7Vertex Pharmaceuticals Inc., Oxford, United Kingdom
  8. 8Department of Surgery, Weill Cornell Medicine, New York, New York
  1. Correspondence:
    Dr. Hanna Rennert, Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, 525 East 68 Street, F544, New York, NY 10065. Email: har2006{at}med.cornell.edu
  1. Z.Z. and H.B. contributed equally to this work.

Funding

  • Vertex Pharmaceuticals

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Journal of the American Society of Nephrology: 32 (12)
Journal of the American Society of Nephrology
Vol. 32, Issue 12
December 2021
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Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing
Zhengmao Zhang, Hanwen Bai, Jon Blumenfeld, Andrew B. Ramnauth, Irina Barash, Martin Prince, Adrian Y. Tan, Alber Michaeel, Genyan Liu, Ines Chicos, Lior Rennert, Stavros Giannakopoulos, Karen Larbi, Stuart Hughes, Steven P. Salvatore, Brian D. Robinson, Sandip Kapur, Hanna Rennert
JASN Dec 2021, 32 (12) 3114-3129; DOI: 10.1681/ASN.2021050690

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Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing
Zhengmao Zhang, Hanwen Bai, Jon Blumenfeld, Andrew B. Ramnauth, Irina Barash, Martin Prince, Adrian Y. Tan, Alber Michaeel, Genyan Liu, Ines Chicos, Lior Rennert, Stavros Giannakopoulos, Karen Larbi, Stuart Hughes, Steven P. Salvatore, Brian D. Robinson, Sandip Kapur, Hanna Rennert
JASN Dec 2021, 32 (12) 3114-3129; DOI: 10.1681/ASN.2021050690
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Keywords

  • genetic renal disease
  • ADPKD
  • cystic kidney
  • end-stage renal disease
  • polycystic kidney disease
  • polycystic kidney
  • autosomal dominant
  • whole genome sequencing
  • epithelial cells
  • cysts

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