Population-scale repeat expansions elucidate disease risk and brain atrophy

V Vijay Kumar Pounraja J Jae Hoon Sul J Joseph Herman S Sean O’Keeffe V Veera Rajagopal X Xiaodong Bai M Michael D. Kessler N Neelroop Parikshak K Karl Landheer X Xingmin Zhang S Sean Yu L Lance Zhang J Jennifer Rico-Varela F Frederic Grau S Sarah Wolf S Sriramkumar Sundaramoorthy F Farshid Sepehrband E Eli A. Stahl Y Yuda Huo M Mohsin Ahmed S Susan Croll A Adam Buchanan D David J. Carey C Christa L. Martin M Michelle Meyer K Kyle Retterer D David Rolston J James R. Cerhan F Fergus J. Couch J Janet E. Olson N Nicholas B. Larson Z Zachary S. Fredericksen M Mine Cicek J Joanna M. Biernacka V Victor M. Karpyak P Prashanthi Vemuri V Vijay K. Ramanan O Owen A. Ross M Mark A. Frye J Jeanette E. Eckel Passow R Robert R. Jenkins D Daniel H. Lachance K Kristen L. Drucker P Paul A. Decker M Matthew L. Kosel S Sarah A. McLaughlin K Kathryn J. Ruddy N Nicholas J. Boddicker W Wenan Chen S Suzette J. Bielinski J John C. Lieske W W. Michael Hooten L Lisa A. Boardman R Richard B. Kennedy A Andrew D. Badley S Sean C. Dowdy S Shariska Harrington G Gretchen E. Glaser P Ping Yang C Celine M. Vachon S Stacey Winham A Angela Dispenzieri S Samuel O. Antwi A Ann L. Oberg K Kari G. Rabe S Scott H. Kaufmann E Ellen L. Goode W William A. Cliby J Jamie Bakkum-Gamez S Sun-Hee Lee J J. Eric Ahlskog J James H. Bower P Peter C. Harris N Naveen L. Pereira N Nadia N. Laack D Daniel J. Ma R Robert W. Mutter J Jonathan J. Harrington J Jason Torres J Jonathan R. Emberson R Rory Collins J Jaime Berumen J Jesús Alegre-Díaz R Roberto Tapia-Conyer P Pablo Kuri-Morales D Daniel J. Rader M Marylyn D. Ritchie J JoEllen Weaver N Nawar Naseer G Giorgio Sirugo A Afiya Poindexter Y Yi-An Ko K Kyle P. Nerz J Jenna Dever A Aidan Harvey S Sydney Linn M Meghan Livingstone F Fred Vadivieso S Stephanie DerOhannessian T Teo Tran J Julia Stephanowski S Salma Santos N Ned Haubein J Joseph Dunn A Anurag Verma C Colleen Morse Kripke M Marjorie Risman R Renae Judy C Colin Wollack S Shefali S. Verma S Scott Damrauer Y Yuki Bradford S Scott Dudek T Theodore Drivas W William Salerno J Jonathan Marchini J Jeffrey Reid A Aris Baras G Gonçalo Abecasis A Adolfo Ferrando A Andrew Deubler L Luca A. Lotta J John D. Overton J Jeffrey G. Reid A Alan Shuldiner K Katherine Siminovitch J Jason Portnoy M Marcus B. Jones L Lyndon Mitnaul A Alison Fenney M Manuel Allen Revez Ferreira M Maya Ghoussaini M Mona Nafde C Cristen Willer L Lourdes Crane N Niek Verweij E Eric Jorgenson J Joseph Pickrell C Christina Beechert E Erin Fuller L Laura M. Cremona E Eugene Kalyuskin H Hang Du C Caitlin Forsythe Z Zhenhua Gu K Kristy Guevara M Michael Lattari A Alexander Lopez K Kia Manoochehri P Prathyusha Challa M Manasi Pradhan R Raymond Reynoso R Ricardo Schiavo M Maria Sotiropoulos Padilla C Chenggu Wang S Sarah E. Wolf M Manan Goyal G George Mitra R Rouel Lanche V Vrushali Mahajan S Sai Lakshmi Vasireddy G Gisu Eom K Krishna Pawan Punuru S Sujit Gokhale S Shehroze Aamer P Pooja Mule M Mudasar Sarwar M Muhammad Aqeel R Razvan Panea E Evan Edelstein D Devika Torvi A Ayesha Rasool E Evan K. Maxwell B Boris Boutkov A Alexander Gorovits J Ju Guan A Alicia Hawes O Olga Krasheninina S Samantha Zarate A Adam J. Mansfield L Lukas Habegger S Stephen Tahan N Naveen Karumuri J Joshua Backman K Kathryn Burch A Adrian Campos L Liron Ganel S Sheila Gaynor B Benjamin Geraghty A Arkopravo Ghosh C Christopher Gillies L Lauren Gurski T Tyler Joseph M Michael Kessler J Jack Kosmicki A Adam Locke P Priyanka Nakka O Olivier Delaneau A Anthony Marcketta J Joelle Mbatchou J Jonathan Ross C Carlo Sidore E Eli Stahl T Timothy Thornton R Rujin Wang K Kuan-Han Wu B Bin Ye B Blair Zhang A Andrey Ziyatdinov Y Yuxin Zou J Jingning Zhang K Kyoko Watanabe M Mira Tang F Frank Wendt S Suganthi Balasubramanian S Suying Bao K Kathie Sun C Chuanyi Zhang A Aaron Zhang D David Corrigan D Dhruv Shidhaye C Chen Wang K Keyrun Adhikari A Alexander Lachmann A Anna Alkelai M Mark Weiner J Julian Stamp B Brian Hobbs J Jon Silver W William Palmer R Rita Guerreiro A Amit Joshi (Sr. Specialist, Department of Forensic Medicine, Government Medical College, Kota, Rajasthan, India) A Antoine Baldassari S Sarah Graham E Ernst Mayerhofer E Erola Pairo Castineira M Mary Haas G George Hindy J Jonas Bovijn T Tanima De L Luanluan Sun O Olukayode Sosina A Arthur Gilly P Peter Dornbos M Moeen Riaz M Manav Kapoor G Gannie Tzoneva V Vijay Kumar J Jacqueline Otto J Jose Bras S Silvia Alvarez J Jessie Brown H Hossein Khiabanian J Joana Revez K Kimberly Skead J Jae Soon Sul L Lei Chen S Sam Choi A Amy Damask N Nan Lin C Charles Paulding S Sameer Malhotra J Jacob McPadden D David Blair J Joshua Motelow J Julie Horowitz M Michelle G. LeBlanc N Nadia Rana J Jennifer Rico Varela J Jaimee Hernandez L Larizbeth Romero A Ashley Paynter R Randi Schwartz J Jody Hankins A Anna Han S Samuel Hart R Ryan Smith S Sarah Murphy A Ann Perez-Beals G Gina Solari J Johannie Rivera-Picart M Michelle Pagan S Sunilbe Siceron G Goncalo R. Abecasis G Giovanni Coppola S Sahar Gelfman

Article Details

Journal Nature
Volume / Issue Vol. 653, Issue 8115
Published May 21, 2026
Pages 796-808
ISSN 0028-0836
Publisher Nature Portfolio

Journal Info

Nature

Nature Portfolio

ISSN: 0028-0836 Health Sciences

Authors (286)

V

Vijay Kumar Pounraja

J

Jae Hoon Sul

J

Joseph Herman

S

Sean O’Keeffe

V

Veera Rajagopal

X

Xiaodong Bai

M

Michael D. Kessler

N

Neelroop Parikshak

K

Karl Landheer

X

Xingmin Zhang

S

Sean Yu

L

Lance Zhang

J

Jennifer Rico-Varela

F

Frederic Grau

S

Sarah Wolf

S

Sriramkumar Sundaramoorthy

F

Farshid Sepehrband

E

Eli A. Stahl

Y

Yuda Huo

M

Mohsin Ahmed

S

Susan Croll

A

Adam Buchanan

D

David J. Carey

C

Christa L. Martin

M

Michelle Meyer

K

Kyle Retterer

D

David Rolston

J

James R. Cerhan

F

Fergus J. Couch

J

Janet E. Olson

N

Nicholas B. Larson

Z

Zachary S. Fredericksen

M

Mine Cicek

J

Joanna M. Biernacka

V

Victor M. Karpyak

P

Prashanthi Vemuri

V

Vijay K. Ramanan

O

Owen A. Ross

M

Mark A. Frye

J

Jeanette E. Eckel Passow

R

Robert R. Jenkins

D

Daniel H. Lachance

K

Kristen L. Drucker

P

Paul A. Decker

M

Matthew L. Kosel

S

Sarah A. McLaughlin

K

Kathryn J. Ruddy

N

Nicholas J. Boddicker

W

Wenan Chen

S

Suzette J. Bielinski

J

John C. Lieske

W

W. Michael Hooten

L

Lisa A. Boardman

R

Richard B. Kennedy

A

Andrew D. Badley

S

Sean C. Dowdy

S

Shariska Harrington

G

Gretchen E. Glaser

P

Ping Yang

C

Celine M. Vachon

S

Stacey Winham

A

Angela Dispenzieri

S

Samuel O. Antwi

A

Ann L. Oberg

K

Kari G. Rabe

S

Scott H. Kaufmann

E

Ellen L. Goode

W

William A. Cliby

J

Jamie Bakkum-Gamez

S

Sun-Hee Lee

J

J. Eric Ahlskog

J

James H. Bower

P

Peter C. Harris

N

Naveen L. Pereira

N

Nadia N. Laack

D

Daniel J. Ma

R

Robert W. Mutter

J

Jonathan J. Harrington

J

Jason Torres

J

Jonathan R. Emberson

R

Rory Collins

J

Jaime Berumen

J

Jesús Alegre-Díaz

R

Roberto Tapia-Conyer

P

Pablo Kuri-Morales

D

Daniel J. Rader

M

Marylyn D. Ritchie

J

JoEllen Weaver

N

Nawar Naseer

G

Giorgio Sirugo

A

Afiya Poindexter

Y

Yi-An Ko

K

Kyle P. Nerz

J

Jenna Dever

A

Aidan Harvey

S

Sydney Linn

M

Meghan Livingstone

F

Fred Vadivieso

S

Stephanie DerOhannessian

T

Teo Tran

J

Julia Stephanowski

S

Salma Santos

N

Ned Haubein

J

Joseph Dunn

A

Anurag Verma

C

Colleen Morse Kripke

M

Marjorie Risman

R

Renae Judy

C

Colin Wollack

S

Shefali S. Verma

S

Scott Damrauer

Y

Yuki Bradford

S

Scott Dudek

T

Theodore Drivas

W

William Salerno

J

Jonathan Marchini

J

Jeffrey Reid

A

Aris Baras

G

Gonçalo Abecasis

A

Adolfo Ferrando

A

Andrew Deubler

L

Luca A. Lotta

J

John D. Overton

J

Jeffrey G. Reid

A

Alan Shuldiner

K

Katherine Siminovitch

J

Jason Portnoy

M

Marcus B. Jones

L

Lyndon Mitnaul

A

Alison Fenney

M

Manuel Allen Revez Ferreira

M

Maya Ghoussaini

M

Mona Nafde

C

Cristen Willer

L

Lourdes Crane

N

Niek Verweij

E

Eric Jorgenson

J

Joseph Pickrell

C

Christina Beechert

E

Erin Fuller

L

Laura M. Cremona

E

Eugene Kalyuskin

H

Hang Du

C

Caitlin Forsythe

Z

Zhenhua Gu

K

Kristy Guevara

M

Michael Lattari

A

Alexander Lopez

K

Kia Manoochehri

P

Prathyusha Challa

M

Manasi Pradhan

R

Raymond Reynoso

R

Ricardo Schiavo

M

Maria Sotiropoulos Padilla

C

Chenggu Wang

S

Sarah E. Wolf

M

Manan Goyal

G

George Mitra

R

Rouel Lanche

V

Vrushali Mahajan

S

Sai Lakshmi Vasireddy

G

Gisu Eom

K

Krishna Pawan Punuru

S

Sujit Gokhale

S

Shehroze Aamer

P

Pooja Mule

M

Mudasar Sarwar

M

Muhammad Aqeel

R

Razvan Panea

E

Evan Edelstein

D

Devika Torvi

A

Ayesha Rasool

E

Evan K. Maxwell

B

Boris Boutkov

A

Alexander Gorovits

J

Ju Guan

A

Alicia Hawes

O

Olga Krasheninina

S

Samantha Zarate

A

Adam J. Mansfield

L

Lukas Habegger

S

Stephen Tahan

N

Naveen Karumuri

J

Joshua Backman

K

Kathryn Burch

A

Adrian Campos

L

Liron Ganel

S

Sheila Gaynor

B

Benjamin Geraghty

A

Arkopravo Ghosh

C

Christopher Gillies

L

Lauren Gurski

T

Tyler Joseph

M

Michael Kessler

J

Jack Kosmicki

A

Adam Locke

P

Priyanka Nakka

O

Olivier Delaneau

A

Anthony Marcketta

J

Joelle Mbatchou

J

Jonathan Ross

C

Carlo Sidore

E

Eli Stahl

T

Timothy Thornton

R

Rujin Wang

K

Kuan-Han Wu

B

Bin Ye

B

Blair Zhang

A

Andrey Ziyatdinov

Y

Yuxin Zou

J

Jingning Zhang

K

Kyoko Watanabe

M

Mira Tang

F

Frank Wendt

S

Suganthi Balasubramanian

S

Suying Bao

K

Kathie Sun

C

Chuanyi Zhang

A

Aaron Zhang

D

David Corrigan

D

Dhruv Shidhaye

C

Chen Wang

K

Keyrun Adhikari

A

Alexander Lachmann

A

Anna Alkelai

M

Mark Weiner

J

Julian Stamp

B

Brian Hobbs

J

Jon Silver

W

William Palmer

R

Rita Guerreiro

A

Amit Joshi

Sr. Specialist, Department of Forensic Medicine, Government Medical College, Kota, Rajasthan, India

A

Antoine Baldassari

S

Sarah Graham

E

Ernst Mayerhofer

E

Erola Pairo Castineira

M

Mary Haas

G

George Hindy

J

Jonas Bovijn

T

Tanima De

L

Luanluan Sun

O

Olukayode Sosina

A

Arthur Gilly

P

Peter Dornbos

M

Moeen Riaz

M

Manav Kapoor

G

Gannie Tzoneva

V

Vijay Kumar

J

Jacqueline Otto

J

Jose Bras

S

Silvia Alvarez

J

Jessie Brown

H

Hossein Khiabanian

J

Joana Revez

K

Kimberly Skead

J

Jae Soon Sul

L

Lei Chen

S

Sam Choi

A

Amy Damask

N

Nan Lin

C

Charles Paulding

S

Sameer Malhotra

J

Jacob McPadden

D

David Blair

J

Joshua Motelow

J

Julie Horowitz

M

Michelle G. LeBlanc

N

Nadia Rana

J

Jennifer Rico Varela

J

Jaimee Hernandez

L

Larizbeth Romero

A

Ashley Paynter

R

Randi Schwartz

J

Jody Hankins

A

Anna Han

S

Samuel Hart

R

Ryan Smith

S

Sarah Murphy

A

Ann Perez-Beals

G

Gina Solari

J

Johannie Rivera-Picart

M

Michelle Pagan

S

Sunilbe Siceron

G

Goncalo R. Abecasis

G

Giovanni Coppola

S

Sahar Gelfman