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Research | 13 October 2020 | Open
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
- Xiaolei Zhang
- , Roddy Walsh
- , Nicola Whiffin
- , Rachel Buchan
- , William Midwinter
- , Alicja Wilk
- , Risha Govind
- , Nicholas Li
- , Mian Ahmad
- , Francesco Mazzarotto
- , Angharad Roberts
- , Pantazis I. Theotokis
- , Erica Mazaika
- , Mona Allouba
- , Antonio de Marvao
- , Chee Jian Pua
- , Sharlene M. Day
- , Euan Ashley
- , Steven D. Colan
- , Michelle Michels
- , Alexandre C. Pereira
- , Daniel Jacoby
- , Carolyn Y. Ho
- , Iacopo Olivotto
- , Gunnar T. Gunnarsson
- , John L. Jefferies
- , Chris Semsarian
- , Jodie Ingles
- , Declan P. O’Regan
- , Yasmine Aguib
- , Magdi H. Yacoub
- , Stuart A. Cook
- , Paul J. R. Barton
- , Leonardo Bottolo
- & James S. Ware
Genetics in Medicine 23 , 69–79

Rights & permissionsfor article Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions . Opens in a new window.
Amendments and Corrections | 9 September 2019 | Open
Author Correction: WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling
- Huimei Chen
- , Aida Moreno-Moral
- , Francesco Pesce
- , Nithya Devapragash
- , Massimiliano Mancini
- , Ee Ling Heng
- , Maxime Rotival
- , Prashant K. Srivastava
- , Nathan Harmston
- , Kirill Shkura
- , Owen J. L. Rackham
- , Wei-Ping Yu
- , Xi-Ming Sun
- , Nicole Gui Zhen Tee
- , Elisabeth Li Sa Tan
- , Paul J. R. Barton
- , Leanne E. Felkin
- , Enrique Lara-Pezzi
- , Gianni Angelini
- , Cristina Beltrami
- , Michal Pravenec
- , Sebastian Schafer
- , Leonardo Bottolo
- , Norbert Hubner
- , Costanza Emanueli
- , Stuart A. Cook
- & Enrico Petretto
Nature Communications 10 , 1–1

Rights & permissionsfor article Author Correction: WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling . Opens in a new window.
Research | 9 August 2019 | Open
WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling
- Huimei Chen
- , Aida Moreno-Moral
- , Francesco Pesce
- , Nithya Devapragash
- , Massimiliano Mancini
- , Ee Ling Heng
- , Maxime Rotival
- , Prashant K. Srivastava
- , Nathan Harmston
- , Kirill Shkura
- , Owen J. L. Rackham
- , Wei-Ping Yu
- , Xi-Ming Sun
- , Nicole Gui Zhen Tee
- , Elisabeth Li Sa Tan
- , Paul J. R. Barton
- , Leanne E. Felkin
- , Enrique Lara-Pezzi
- , Gianni Angelini
- , Cristina Beltrami
- , Michal Pravenec
- , Sebastian Schafer
- , Leonardo Bottolo
- , Norbert Hubner
- , Costanza Emanueli
- , Stuart A. Cook
- & Enrico Petretto
Nature Communications 10 , 1–19

Rights & permissionsfor article WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling . Opens in a new window.
Research | 8 July 2016 | Open
Wars2 is a determinant of angiogenesis
- Mao Wang
- , Patrick Sips
- , Ester Khin
- , Maxime Rotival
- , Ximing Sun
- , Rizwan Ahmed
- , Anissa Anindya Widjaja
- , Sebastian Schafer
- , Permeen Yusoff
- , Pervinder Kaur Choksi
- , Nicole Shi Jie Ko
- , Manvendra K. Singh
- , David Epstein
- , Yuguang Guan
- , Josef Houštěk
- , Tomas Mracek
- , Hana Nuskova
- , Brittney Mikell
- , Jessie Tan
- , Francesco Pesce
- , Frantisek Kolar
- , Leonardo Bottolo
- , Massimiliano Mancini
- , Norbert Hubner
- , Michal Pravenec
- , Enrico Petretto
- , Calum MacRae
- & Stuart A Cook
Nature Communications 7 , 1–12

Rights & permissionsfor article <i>Wars2</i> is a determinant of angiogenesis . Opens in a new window.
Research | 21 December 2015
Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease
- Michael R Johnson
- , Kirill Shkura
- , Sarah R Langley
- , Andree Delahaye-Duriez
- , Prashant Srivastava
- , W David Hill
- , Owen J L Rackham
- , Gail Davies
- , Sarah E Harris
- , Aida Moreno-Moral
- , Maxime Rotival
- , Doug Speed
- , Slavé Petrovski
- , Anaïs Katz
- , Caroline Hayward
- , David J Porteous
- , Blair H Smith
- , Sandosh Padmanabhan
- , Lynne J Hocking
- , John M Starr
- , David C Liewald
- , Alessia Visconti
- , Mario Falchi
- , Leonardo Bottolo
- , Tiziana Rossetti
- , Bénédicte Danis
- , Manuela Mazzuferi
- , Patrik Foerch
- , Alexander Grote
- , Christoph Helmstaedter
- , Albert J Becker
- , Rafal M Kaminski
- , Ian J Deary
- & Enrico Petretto
Nature Neuroscience 19 , 223–232

Rights & permissionsfor article Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease . Opens in a new window.
Research | 30 March 2014
Low copy number of the salivary amylase gene predisposes to obesity
- Mario Falchi
- , Julia Sarah El-Sayed Moustafa
- , Petros Takousis
- , Francesco Pesce
- , Amélie Bonnefond
- , Johanna C Andersson-Assarsson
- , Peter H Sudmant
- , Rajkumar Dorajoo
- , Mashael Nedham Al-Shafai
- , Leonardo Bottolo
- , Erdal Ozdemir
- , Hon-Cheong So
- , Robert W Davies
- , Alexandre Patrice
- , Robert Dent
- , Massimo Mangino
- , Pirro G Hysi
- , Aurélie Dechaume
- , Marlène Huyvaert
- , Jane Skinner
- , Marie Pigeyre
- , Robert Caiazzo
- , Violeta Raverdy
- , Emmanuel Vaillant
- , Sarah Field
- , Beverley Balkau
- , Michel Marre
- , Sophie Visvikis-Siest
- , Jacques Weill
- , Odile Poulain-Godefroy
- , Peter Jacobson
- , Lars Sjostrom
- , Christopher J Hammond
- , Panos Deloukas
- , Pak Chung Sham
- , Ruth McPherson
- , Jeannette Lee
- , E Shyong Tai
- , Robert Sladek
- , Lena M S Carlsson
- , Andrew Walley
- , Evan E Eichler
- , Francois Pattou
- , Timothy D Spector
- & Philippe Froguel
Nature Genetics 46 , 492–497

Rights & permissionsfor article Low copy number of the salivary amylase gene predisposes to obesity . Opens in a new window.
Research | 23 January 2015
Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus
- Michael R. Johnson
- , Jacques Behmoaras
- , Leonardo Bottolo
- , Michelle L. Krishnan
- , Katharina Pernhorst
- , Paola L. Meza Santoscoy
- , Tiziana Rossetti
- , Doug Speed
- , Prashant K. Srivastava
- , Marc Chadeau-Hyam
- , Nabil Hajji
- , Aleksandra Dabrowska
- , Maxime Rotival
- , Banafsheh Razzaghi
- , Stjepana Kovac
- , Klaus Wanisch
- , Federico W. Grillo
- , Anna Slaviero
- , Sarah R. Langley
- , Kirill Shkura
- , Paolo Roncon
- , Tisham De
- , Manuel Mattheisen
- , Pitt Niehusmann
- , Terence J. O’Brien
- , Slave Petrovski
- , Marec von Lehe
- , Per Hoffmann
- , Johan Eriksson
- , Alison J. Coffey
- , Sven Cichon
- , Matthew Walker
- , Michele Simonato
- , Bénédicte Danis
- , Manuela Mazzuferi
- , Patrik Foerch
- , Susanne Schoch
- , Vincenzo De Paola
- , Rafal M. Kaminski
- , Vincent T. Cunliffe
- , Albert J. Becker
- & Enrico Petretto
Nature Communications 6 , 1–11

Rights & permissionsfor article Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus . Opens in a new window.
Research | 5 October 2011
Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function
- Chris McDermott-Roe
- , Junmei Ye
- , Rizwan Ahmed
- , Xi-Ming Sun
- , Anna Serafín
- , James Ware
- , Leonardo Bottolo
- , Phil Muckett
- , Xavier Cañas
- , Jisheng Zhang
- , Glenn C. Rowe
- , Rachel Buchan
- , Han Lu
- , Adam Braithwaite
- , Massimiliano Mancini
- , David Hauton
- , Ramon Martí
- , Elena García-Arumí
- , Norbert Hubner
- , Howard Jacob
- , Tadao Serikawa
- , Vaclav Zidek
- , Frantisek Papousek
- , Frantisek Kolar
- , Maria Cardona
- , Marisol Ruiz-Meana
- , David García-Dorado
- , Joan X. Comella
- , Leanne E. Felkin
- , Paul J. R. Barton
- , Zoltan Arany
- , Michal Pravenec
- , Enrico Petretto
- , Daniel Sanchis
- & Stuart A. Cook
Nature 478 , 114–118

Rights & permissionsfor article Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function . Opens in a new window.
Research | 18 October 2007
Genome-wide detection and characterization of positive selection in human populations
- Pardis C. Sabeti
- , Patrick Varilly
- , Ben Fry
- , Jason Lohmueller
- , Elizabeth Hostetter
- , Chris Cotsapas
- , Xiaohui Xie
- , Elizabeth H. Byrne
- , Steven A. McCarroll
- , Rachelle Gaudet
- , Stephen F. Schaffner
- , Eric S. Lander
- , Kelly A. Frazer (Principal Investigator)
- , Dennis G. Ballinger
- , David R. Cox
- , David A. Hinds
- , Laura L. Stuve
- , Richard A. Gibbs (Principal Investigator)
- , John W. Belmont
- , Andrew Boudreau
- , Paul Hardenbol
- , Suzanne M. Leal
- , Shiran Pasternak
- , David A. Wheeler
- , Thomas D. Willis
- , Fuli Yu
- , Huanming Yang (Principal Investigator)
- , Changqing Zeng (Principal Investigator)
- , Yang Gao
- , Haoran Hu
- , Weitao Hu
- , Chaohua Li
- , Wei Lin
- , Siqi Liu
- , Hao Pan
- , Xiaoli Tang
- , Jian Wang
- , Wei Wang
- , Jun Yu
- , Bo Zhang
- , Qingrun Zhang
- , Hongbin Zhao
- , Hui Zhao
- , Jun Zhou
- , Stacey B. Gabriel (Project Leader)
- , Rachel Barry
- , Brendan Blumenstiel
- , Amy Camargo
- , Matthew Defelice
- , Maura Faggart
- , Mary Goyette
- , Supriya Gupta
- , Jamie Moore
- , Huy Nguyen
- , Robert C. Onofrio
- , Melissa Parkin
- , Jessica Roy
- , Erich Stahl
- , Ellen Winchester
- , Liuda Ziaugra
- , David Altshuler (Principal Investigator)
- , Yan Shen (Principal Investigator)
- , Zhijian Yao
- , Wei Huang (Principal Investigator)
- , Xun Chu
- , Yungang He
- , Li Jin
- , Yangfan Liu
- , Yayun Shen
- , Weiwei Sun
- , Haifeng Wang
- , Yi Wang
- , Ying Wang
- , Xiaoyan Xiong
- , Liang Xu
- , Mary M. Y. Waye (Principal Investigator)
- , Stephen K. W. Tsui
- , Hong Xue
- , J. Tze-Fei Wong
- , Luana M. Galver (Project Leader)
- , Jian-Bing Fan
- , Kevin Gunderson
- , Sarah S. Murray
- , Arnold R. Oliphant
- , Mark S. Chee (Principal Investigator)
- , Alexandre Montpetit (Project Leader)
- , Fanny Chagnon
- , Vincent Ferretti
- , Martin Leboeuf
- , Jean-François Olivier
- , Michael S. Phillips
- , Stéphanie Roumy
- , Clémentine Sallée
- , Andrei Verner
- , Thomas J. Hudson (Principal Investigator)
- , Pui-Yan Kwok
- , Dongmei Cai
- , Daniel C. Koboldt
- , Raymond D. Miller
- , Ludmila Pawlikowska
- , Patricia Taillon-Miller
- , Ming Xiao
- , Lap-Chee Tsui (Principal Investigator)
- , William Mak
- , You Qiang Song
- , Paul K. H. Tam
- , Yusuke Nakamura (Principal Investigator)
- , Takahisa Kawaguchi
- , Takuya Kitamoto
- , Takashi Morizono
- , Atsushi Nagashima
- , Yozo Ohnishi
- , Akihiro Sekine
- , Toshihiro Tanaka
- , Tatsuhiko Tsunoda
- , Panos Deloukas (Project Leader)
- , Christine P. Bird
- , Marcos Delgado
- , Emmanouil T. Dermitzakis
- , Rhian Gwilliam
- , Sarah Hunt
- , Jonathan Morrison
- , Don Powell
- , Barbara E. Stranger
- , Pamela Whittaker
- , David R. Bentley (Principal Investigator)
- , Mark J. Daly (Project Leader)
- , Paul I. W. de Bakker
- , Jeff Barrett
- , Yves R. Chretien
- , Julian Maller
- , Steve McCarroll
- , Nick Patterson
- , Itsik Pe’er
- , Alkes Price
- , Shaun Purcell
- , Daniel J. Richter
- , Pardis Sabeti
- , Richa Saxena
- , Stephen F. Schaffner
- , Pak C. Sham
- , Patrick Varilly
- , David Altshuler (Principal Investigator)
- , Lincoln D. Stein (Principal Investigator)
- , Lalitha Krishnan
- , Albert Vernon Smith
- , Marcela K. Tello-Ruiz
- , Gudmundur A. Thorisson
- , Aravinda Chakravarti
- , Peter E. Chen
- , David J. Cutler
- , Carl S. Kashuk
- , Shin Lin
- , Gonçalo R. Abecasis (Principal Investigator)
- , Weihua Guan
- , Yun Li
- , Heather M. Munro
- , Zhaohui Steve Qin
- , Daryl J. Thomas
- , Gilean McVean (Project Leader)
- , Adam Auton
- , Leonardo Bottolo
- , Niall Cardin
- , Susana Eyheramendy
- , Colin Freeman
- , Jonathan Marchini
- , Simon Myers
- , Chris Spencer
- , Matthew Stephens
- , Peter Donnelly
- , Lon R. Cardon (Principal Investigator)
- , Geraldine Clarke
- , David M. Evans
- , Andrew P. Morris
- , Bruce S. Weir
- , Tatsuhiko Tsunoda (Principal Investigator)
- , Todd A Johnson
- , James C. Mullikin
- , Stephen T. Sherry
- , Michael Feolo
- , Andrew Skol
- , Houcan Zhang
- , Changqing Zeng
- , Hui Zhao
- , Ichiro Matsuda (Principal Investigator)
- , Yoshimitsu Fukushima
- , Darryl R. Macer
- , Eiko Suda
- , Charles N. Rotimi (Principal Investigator)
- , Clement A. Adebamowo
- , Ike Ajayi
- , Toyin Aniagwu
- , Patricia A. Marshall
- , Chibuzor Nkwodimmah
- , Charmaine D. M. Royal
- , Mark F. Leppert (Principal Investigator)
- , Missy Dixon
- , Andy Peiffer
- , Renzong Qiu
- , Alastair Kent
- , Kazuto Kato
- , Norio Niikawa
- , Isaac F. Adewole
- , Bartha M. Knoppers
- , Morris W. Foster
- , Ellen Wright Clayton
- , Jessica Watkin
- , Richard A. Gibbs (Principal Investigator)
- , John W. Belmont
- , Donna Muzny
- , Lynne Nazareth
- , Erica Sodergren
- , George M. Weinstock
- , David A. Wheeler
- , Imtaz Yakub
- , Stacey B. Gabriel (Project Leader)
- , Robert C. Onofrio
- , Daniel J. Richter
- , Liuda Ziaugra
- , Bruce W. Birren
- , Mark J. Daly
- , David Altshuler (Principal Investigator)
- , Richard K. Wilson
- , Lucinda L. Fulton
- , Jane Rogers (Principal Investigator)
- , John Burton
- , Nigel P. Carter
- , Christopher M. Clee
- , Mark Griffiths
- , Matthew C. Jones
- , Kirsten McLay
- , Robert W. Plumb
- , Mark T. Ross
- , Sarah K. Sims
- , David L. Willey
- , Zhu Chen
- , Hua Han
- , Le Kang
- , Martin Godbout
- , John C. Wallenburg
- , Paul L'Archevêque
- , Guy Bellemare
- , Koji Saeki
- , Hongguang Wang
- , Daochang An
- , Hongbo Fu
- , Qing Li
- , Zhen Wang
- , Renwu Wang
- , Arthur L. Holden
- , Lisa D. Brooks
- , Jean E. McEwen
- , Mark S. Guyer
- , Vivian Ota Wang
- , Jane L. Peterson
- , Michael Shi
- , Jack Spiegel
- , Lawrence M. Sung
- , Lynn F. Zacharia
- , Francis S. Collins
- , Karen Kennedy
- , Ruth Jamieson
- & John Stewart
Nature 449 , 913–918

Rights & permissionsfor article Genome-wide detection and characterization of positive selection in human populations . Opens in a new window.
Research | 8 September 2010
A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk
- Matthias Heinig
- , Enrico Petretto
- , Chris Wallace
- , Leonardo Bottolo
- , Maxime Rotival
- , Han Lu
- , Yoyo Li
- , Rizwan Sarwar
- , Sarah R. Langley
- , Anja Bauerfeind
- , Oliver Hummel
- , Young-Ae Lee
- , Svetlana Paskas
- , Carola Rintisch
- , Kathrin Saar
- , Jason Cooper
- , Rachel Buchan
- , Elizabeth E. Gray
- , Jason G. Cyster
- , Peter Braund
- , Jay Gracey
- , Unni Krishnan
- , Jasbir S. Moore
- , Chris P. Nelson
- , Helen Pollard
- , Tony Attwood
- , Abi Crisp-Hihn
- , Nicola Foad
- , Jennifer Jolley
- , Heather Lloyd-Jones
- , David Muir
- , Elizabeth Murray
- , Karen O’Leary
- , Angela Rankin
- , Jennifer Sambrook
- , Tiphaine Godfroy
- , Jessy Brocheton
- , Carole Proust
- , Gerd Schmitz
- , Susanne Heimerl
- , Ingrid Lugauer
- , Stephanie Belz
- , Stefanie Gulde
- , Patrick Linsel-Nitschke
- , Hendrik Sager
- , Laura Schroeder
- , Per Lundmark
- , Ann-Christine Syvannen
- , Jessica Neudert
- , Michael Scholz
- , Panos Deloukas
- , Emma Gray
- , Rhian Gwilliams
- , David Niblett.
- , Jeanette Erdmann
- , Christian Hengstenberg
- , Seraya Maouche
- , Willem H. Ouwehand
- , Catherine M. Rice
- , Nilesh J. Samani
- , Heribert Schunkert
- , Alison H. Goodall
- , Herbert Schulz
- , Helge G. Roider
- , Martin Vingron
- , Stefan Blankenberg
- , Thomas Münzel
- , Tanja Zeller
- , Silke Szymczak
- , Andreas Ziegler
- , Laurence Tiret
- , Deborah J. Smyth
- , Michal Pravenec
- , Timothy J. Aitman
- , Francois Cambien
- , David Clayton
- , John A. Todd
- , Norbert Hubner
- & Stuart A. Cook
Nature 467 , 460–464

Rights & permissionsfor article A <i>trans</i>-acting locus regulates an anti-viral expression network and type 1 diabetes risk . Opens in a new window.
Research | 18 October 2007
A second generation human haplotype map of over 3.1 million SNPs
Nature 449 , 851–861

Rights & permissionsfor article A second generation human haplotype map of over 3.1 million SNPs . Opens in a new window.

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