Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Bingyang Shi, Tim Hubbard, Mark J. Caulfield, Robert B. Jackson, Loukas Moutsianas, Peter C. Harris, Sarah R. Senum, Eric Olinger, John A. Sayer, Laura R. Claus, Chuan Chen, Jennifer L. Stallworth, Joshua L. Turner, Gisela G. Slaats, Alexandra L. Hawks, Holly Mabillard, Sujata Srikanth, Heather Flanagan‐Steet, Raymond J. Louie, Josh Silver, Jordan Lerner‐Ellis, Chantal F. Morel, Chloe Mighton, Frank Sleutels, Marjon van Slegtenhorst, Tjakko J. van Ham, Alice S. Brooks, Eiske M. Dorresteijn, Tahsin Stefan Barakat, Karin Dahan, Nathalie Demoulin, Éric Goffin, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, G. C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Louise J. Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Javier F. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Michael P. Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, D. Perez-Gil, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood, Martin J. Larsen, Jens Michael Hertz, Marc R. Liliën, Lena Obeidová, Tomáš Seeman, Hillarey Stone, Larissa Kerecuk, M. Gurgu, Fjodor A. Yousef Yengej, Carola M. E. Ammerlaan, Maarten B. Rookmaaker, Christian Hanna, Richard C. Rogers, Karen Duran, Edith Peters, Gijs van Haaften, Kun Ling, Jennifer M. Mason, Albertien M. van Eerde, Richard Steet, Freya Boardman-Pretty, Shirley Henderson, Prabhu Arumugam
2023-08-18
SCID:  54.1/zymy8w5g
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Publication Date
2023-08-18
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Authors
Bingyang Shi
Tim Hubbard
Mark J. Caulfield
Robert B. Jackson
Loukas Moutsianas
Peter C. Harris
Sarah R. Senum
Eric Olinger
John A. Sayer
Laura R. Claus
Chuan Chen
Jennifer L. Stallworth
Joshua L. Turner
Gisela G. Slaats
Alexandra L. Hawks
Holly Mabillard
Sujata Srikanth
Heather Flanagan‐Steet
Raymond J. Louie
Josh Silver
Jordan Lerner‐Ellis
Chantal F. Morel
Chloe Mighton
Frank Sleutels
Marjon van Slegtenhorst
Tjakko J. van Ham
Alice S. Brooks
Eiske M. Dorresteijn
Tahsin Stefan Barakat
Karin Dahan
Nathalie Demoulin
Éric Goffin
John C. Ambrose
Prabhu Arumugam
R. Bevers
Marta Bleda
F. Boardman-Pretty
C. R. Boustred
Helen Brittain
G. C. Chan
Greg Elgar
Tom Fowler
Adam Giess
Angela Hamblin
Louise J. Jones
Dalia Kasperavičiūtė
Melis Kayikci
Athanasios Kousathanas
L. Lahnstein
S. E. A. Leigh
I. U. S. Leong
Javier F. Lopez
F. Maleady-Crowe
Meriel McEntagart
Federico Minneci
Michael P. Mueller
Nirupa Murugaesu
Anna C. Need
Peter O’Donovan
Chris A. Odhams
Christine Patch
Mariana Buongermino Pereira
D. Perez-Gil
J. Pullinger
T. Rahim
Augusto Rendon
Tim Rogers
K. Savage
Kushmita Sawant
Richard H. Scott
Afshan Siddiq
A. Sieghart
Samuel C. Smith
Alona Sosinsky
Alexander Stuckey
M. Tanguy
Ana Lisa Taylor Tavares
Ellen Thomas
Simon R. Thompson
Arianna Tucci
M. J. Welland
Eleanor Williams
Katarzyna Witkowska
S. M. Wood
Martin J. Larsen
Jens Michael Hertz
Marc R. Liliën
Lena Obeidová
Tomáš Seeman
Hillarey Stone
Larissa Kerecuk
M. Gurgu
Fjodor A. Yousef Yengej
Carola M. E. Ammerlaan
Maarten B. Rookmaaker
Christian Hanna
Richard C. Rogers
Karen Duran
Edith Peters
Gijs van Haaften
Kun Ling
Jennifer M. Mason
Albertien M. van Eerde
Richard Steet
Freya Boardman-Pretty
Shirley Henderson
Prabhu Arumugam
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