nature.com search

Loading Filters

Showing 1–14 of 14 results

Loading Filters

Research | 11 January 2021
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations
- Joseph Park
- , Anastasia M. Lucas
- , Xinyuan Zhang
- , Kumardeep Chaudhary
- , Judy H. Cho
- , Girish Nadkarni
- , Amanda Dobbyn
- , Geetha Chittoor
- , Navya S. Josyula
- , Nathan Katz
- , Joseph H. Breeyear
- , Shadi Ahmadmehrabi
- , Theodore G. Drivas
- , Venkata R. M. Chavali
- , Maria Fasolino
- , Hisashi Sawada
- , Alan Daugherty
- , Yanming Li
- , Chen Zhang
- , Yuki Bradford
- , JoEllen Weaver
- , Anurag Verma
- , Renae L. Judy
- , Rachel L. Kember
- , John D. Overton
- , Jeffrey G. Reid
- , Manuel A. R. Ferreira
- , Alexander H. Li
- , Aris Baras
- , Scott A. LeMaire
- , Ying H. Shen
- , Ali Naji
- , Klaus H. Kaestner
- , Golnaz Vahedi
- , Todd L. Edwards
- , Jinbo Chen
- , Scott M. Damrauer
- , Anne E. Justice
- , Ron Do
- , Marylyn D. Ritchie
- & Daniel J. Rader
Nature Medicine 27 , 66–72

Rights & permissionsfor article Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations . Opens in a new window.
Research | 23 October 2020 | Open
MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk
- Ida Surakka
- , Lars G. Fritsche
- , Wei Zhou
- , Joshua Backman
- , Jack A. Kosmicki
- , Haocheng Lu
- , Ben Brumpton
- , Jonas B. Nielsen
- , Maiken E. Gabrielsen
- , Anne Heidi Skogholt
- , Brooke Wolford
- , Sarah E. Graham
- , Y. Eugene Chen
- , Seunggeun Lee
- , Hyun Min Kang
- , Arnulf Langhammer
- , Siri Forsmo
- , Bjørn O. Åsvold
- , Unnur Styrkarsdottir
- , Hilma Holm
- , Daniel Gudbjartsson
- , Kari Stefansson
- , Aris Baras
- , Xiaodong Bai
- , Suganthi Balasubramanian
- , Leland Barnard
- , Andrew Blumenfeld
- , Michael Cantor
- , Giovanni Coppola
- , Aris Economides
- , Gisu Eom
- , Lukas Habegger
- , Young Hahn
- , Alicia Hawes
- , Marcus B. Jones
- , Shareef Khalid
- , Luca A. Lotta
- , Evan K. Maxwell
- , Lyndon J. Mitnaul
- , John D. Overton
- , Jeffrey G. Reid
- , Manuel Allen Revez Ferreira
- , William Salerno
- , Deepika Sharma
- , Alan Shuldiner
- , Jeffrey C. Staples
- , Ashish Yadav
- , Goncalo R. Abecasis
- , Kristian Hveem
- & Cristen J. Willer
Nature Communications 11 , 1–8

Rights & permissionsfor article <i>MEPE</i> loss-of-function variant associates with decreased bone mineral density and increased fracture risk . Opens in a new window.
Research | 21 October 2020 | Open
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
- Cristopher V. Van Hout
- , Ioanna Tachmazidou
- , Joshua D. Backman
- , Joshua D. Hoffman
- , Daren Liu
- , Ashutosh K. Pandey
- , Claudia Gonzaga-Jauregui
- , Shareef Khalid
- , Bin Ye
- , Nilanjana Banerjee
- , Alexander H. Li
- , Colm O’Dushlaine
- , Anthony Marcketta
- , Jeffrey Staples
- , Claudia Schurmann
- , Alicia Hawes
- , Evan Maxwell
- , Leland Barnard
- , Alexander Lopez
- , John Penn
- , Lukas Habegger
- , Andrew L. Blumenfeld
- , Xiaodong Bai
- , Sean O’Keeffe
- , Ashish Yadav
- , Kavita Praveen
- , Marcus Jones
- , William J. Salerno
- , Wendy K. Chung
- , Ida Surakka
- , Cristen J. Willer
- , Kristian Hveem
- , Joseph B. Leader
- , David J. Carey
- , David H. Ledbetter
- , Lon Cardon
- , George D. Yancopoulos
- , Aris Economides
- , Giovanni Coppola
- , Alan R. Shuldiner
- , Suganthi Balasubramanian
- , Michael Cantor
- , Matthew R. Nelson
- , John Whittaker
- , Jeffrey G. Reid
- , Jonathan Marchini
- , John D. Overton
- , Robert A. Scott
- , Gonçalo R. Abecasis
- , Laura Yerges-Armstrong
- & Aris Baras
Nature 586 , 749–756

Rights & permissionsfor article Exome sequencing and characterization of 49,960 individuals in the UK Biobank . Opens in a new window.
Research | 4 April 2012
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- Stephan J. Sanders
- , Michael T. Murtha
- , Abha R. Gupta
- , John D. Murdoch
- , Melanie J. Raubeson
- , A. Jeremy Willsey
- , A. Gulhan Ercan-Sencicek
- , Nicholas M. DiLullo
- , Neelroop N. Parikshak
- , Jason L. Stein
- , Michael F. Walker
- , Gordon T. Ober
- , Nicole A. Teran
- , Youeun Song
- , Paul El-Fishawy
- , Ryan C. Murtha
- , Murim Choi
- , John D. Overton
- , Robert D. Bjornson
- , Nicholas J. Carriero
- , Kyle A. Meyer
- , Kaya Bilguvar
- , Shrikant M. Mane
- , Nenad Šestan
- , Richard P. Lifton
- , Murat Günel
- , Kathryn Roeder
- , Daniel H. Geschwind
- , Bernie Devlin
- & Matthew W. State
Nature 485 , 237–241

Rights & permissionsfor article <i>De novo</i> mutations revealed by whole-exome sequencing are strongly associated with autism . Opens in a new window.
Research | 22 March 2019
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
- Tova Hershkovitz
- , Alina Kurolap
- , Claudia Gonzaga-Jauregui
- , Tamar Paperna
- , Adi Mory
- , Sarah E. Wolf
- , John D. Overton
- , Alan R. Shuldiner
- , Ann Saada
- , Hanna Mandel
- & Hagit Baris Feldman
Journal of Human Genetics 64 , 589–595

Rights & permissionsfor article A novel <i>TUFM</i> homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4 . Opens in a new window.
Research | 15 June 2020
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis
- Marijana Vujkovic
- , Jacob M. Keaton
- , Julie A. Lynch
- , Donald R. Miller
- , Jin Zhou
- , Catherine Tcheandjieu
- , Jennifer E. Huffman
- , Themistocles L. Assimes
- , Kimberly Lorenz
- , Xiang Zhu
- , Austin T. Hilliard
- , Renae L. Judy
- , Jie Huang
- , Kyung M. Lee
- , Derek Klarin
- , Saiju Pyarajan
- , John Danesh
- , Olle Melander
- , Asif Rasheed
- , Nadeem H. Mallick
- , Shahid Hameed
- , Irshad H. Qureshi
- , Muhammad Naeem Afzal
- , Uzma Malik
- , Anjum Jalal
- , Shahid Abbas
- , Xin Sheng
- , Long Gao
- , Klaus H. Kaestner
- , Katalin Susztak
- , Yan V. Sun
- , Scott L. DuVall
- , Kelly Cho
- , Jennifer S. Lee
- , J. Michael Gaziano
- , Lawrence S. Phillips
- , James B. Meigs
- , Peter D. Reaven
- , Peter W. Wilson
- , Todd L. Edwards
- , Daniel J. Rader
- , Scott M. Damrauer
- , Christopher J. O’Donnell
- , Philip S. Tsao
- , Mark A. Atkinson
- , Al C. Powers
- , Ali Naji
- , Klaus H. Kaestner
- , Goncalo R. Abecasis
- , Aris Baras
- , Michael N. Cantor
- , Giovanni Coppola
- , Aris N. Economides
- , Luca A. Lotta
- , John D. Overton
- , Jeffrey G. Reid
- , Alan R. Shuldiner
- , Christina Beechert
- , Caitlin Forsythe
- , Erin D. Fuller
- , Zhenhua Gu
- , Michael Lattari
- , Alexander E. Lopez
- , Thomas D. Schleicher
- , Maria Sotiropoulos Padilla
- , Karina Toledo
- , Louis Widom
- , Sarah E. Wolf
- , Manasi Pradhan
- , Kia Manoochehri
- , Ricardo H. Ulloa
- , Xiaodong Bai
- , Suganthi Balasubramanian
- , Leland Barnard
- , Andrew L. Blumenfeld
- , Gisu Eom
- , Lukas Habegger
- , Alicia Hawes
- , Shareef Khalid
- , Evan K. Maxwell
- , William J. Salerno
- , Jeffrey C. Staples
- , Ashish Yadav
- , Marcus B. Jones
- , Lyndon J. Mitnaul
- , Samuel M. Aguayo
- , Sunil K. Ahuja
- , Zuhair K. Ballas
- , Sujata Bhushan
- , Edward J. Boyko
- , David M. Cohen
- , John Concato
- , Joseph I. Constans
- , Louis J. Dellitalia
- , Joseph M. Fayad
- , Ronald S. Fernando
- , Hermes J. Florez
- , Melinda A. Gaddy
- , Saib S. Gappy
- , Gretchen Gibson
- , Michael Godschalk
- , Jennifer A. Greco
- , Samir Gupta
- , Salvador Gutierrez
- , Kimberly D. Hammer
- , Mark B. Hamner
- , John B. Harley
- , Adriana M. Hung
- , Mostaqul Huq
- , Robin A. Hurley
- , Pran R. Iruvanti
- , Douglas J. Ivins
- , Frank J. Jacono
- , Darshana N. Jhala
- , Laurence S. Kaminsky
- , Scott Kinlay
- , Jon B. Klein
- , Suthat Liangpunsakul
- , Jack H. Lichy
- , Stephen M. Mastorides
- , Roy O. Mathew
- , Kristin M. Mattocks
- , Rachel McArdle
- , Paul N. Meyer
- , Laurence J. Meyer
- , Jonathan P. Moorman
- , Timothy R. Morgan
- , Maureen Murdoch
- , Xuan-Mai T. Nguyen
- , Olaoluwa O. Okusaga
- , Kris-Ann K. Oursler
- , Nora R. Ratcliffe
- , Michael I. Rauchman
- , R. Brooks Robey
- , George W. Ross
- , Richard J. Servatius
- , Satish C. Sharma
- , Scott E. Sherman
- , Elif Sonel
- , Peruvemba Sriram
- , Todd Stapley
- , Robert T. Striker
- , Neeraj Tandon
- , Gerardo Villareal
- , Agnes S. Wallbom
- , John M. Wells
- , Jeffrey C. Whittle
- , Mary A. Whooley
- , Junzhe Xu
- , Shing-Shing Yeh
- , Michaela Aslan
- , Jessica V. Brewer
- , Mary T. Brophy
- , Todd Connor
- , Dean P. Argyres
- , Nhan V. Do
- , Elizabeth R. Hauser
- , Donald E. Humphries
- , Luis E. Selva
- , Shahpoor Shayan
- , Brady Stephens
- , Stacey B. Whitbourne
- , Hongyu Zhao
- , Jennifer Moser
- , Jean C. Beckham
- , Jim L. Breeling
- , J. P. Casas Romero
- , Grant D. Huang
- , Rachel B. Ramoni
- , Saiju Pyarajan
- , Yan V. Sun
- , Kelly Cho
- , Peter W. Wilson
- , Christopher J. O’Donnell
- , Philip S. Tsao
- , Kyong-Mi Chang
- , J. Michael Gaziano
- , Sumitra Muralidhar
- , Kyong-Mi Chang
- , Benjamin F. Voight
- & Danish Saleheen
Nature Genetics 52 , 680–691

Rights & permissionsfor article Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis . Opens in a new window.
4 May 2017
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing
- Christopher M Haggerty
- , Cynthia A James
- , Hugh Calkins
- , Crystal Tichnell
- , Joseph B Leader
- , Dustin N Hartzel
- , Christopher D Nevius
- , Sarah A Pendergrass
- , Thomas N Person
- , Marci Schwartz
- , Marylyn D Ritchie
- , David J Carey
- , David H Ledbetter
- , Marc S Williams
- , Frederick E Dewey
- , Alexander Lopez
- , John Penn
- , John D Overton
- , Jeffrey G Reid
- , Matthew Lebo
- , Heather Mason-Suares
- , Christina Austin-Tse
- , Heidi L Rehm
- , Brian P Delisle
- , Daniel J Makowski
- , Vishal C Mehra
- , Michael F Murray
- & Brandon K Fornwalt
Genetics in Medicine 19 , 1245–1252

Rights & permissionsfor article Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing . Opens in a new window.
Research | 9 January 2020 | Open
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
- Sonia Shah
- , Albert Henry
- , Carolina Roselli
- , Honghuang Lin
- , Garðar Sveinbjörnsson
- , Ghazaleh Fatemifar
- , Åsa K. Hedman
- , Jemma B. Wilk
- , Michael P. Morley
- , Mark D. Chaffin
- , Anna Helgadottir
- , Niek Verweij
- , Abbas Dehghan
- , Peter Almgren
- , Charlotte Andersson
- , Krishna G. Aragam
- , Johan Ärnlöv
- , Joshua D. Backman
- , Mary L. Biggs
- , Heather L. Bloom
- , Jeffrey Brandimarto
- , Michael R. Brown
- , Leonard Buckbinder
- , David J. Carey
- , Daniel I. Chasman
- , Xing Chen
- , Xu Chen
- , Jonathan Chung
- , William Chutkow
- , James P. Cook
- , Graciela E. Delgado
- , Spiros Denaxas
- , Alexander S. Doney
- , Marcus Dörr
- , Samuel C. Dudley
- , Michael E. Dunn
- , Gunnar Engström
- , Tõnu Esko
- , Stephan B. Felix
- , Chris Finan
- , Ian Ford
- , Mohsen Ghanbari
- , Sahar Ghasemi
- , Vilmantas Giedraitis
- , Franco Giulianini
- , John S. Gottdiener
- , Stefan Gross
- , Daníel F. Guðbjartsson
- , Rebecca Gutmann
- , Christopher M. Haggerty
- , Pim van der Harst
- , Craig L. Hyde
- , Erik Ingelsson
- , J. Wouter Jukema
- , Maryam Kavousi
- , Kay-Tee Khaw
- , Marcus E. Kleber
- , Lars Køber
- , Andrea Koekemoer
- , Claudia Langenberg
- , Lars Lind
- , Cecilia M. Lindgren
- , Barry London
- , Luca A. Lotta
- , Ruth C. Lovering
- , Jian’an Luan
- , Patrik Magnusson
- , Anubha Mahajan
- , Kenneth B. Margulies
- , Winfried März
- , Olle Melander
- , Ify R. Mordi
- , Thomas Morgan
- , Andrew D. Morris
- , Andrew P. Morris
- , Alanna C. Morrison
- , Michael W. Nagle
- , Christopher P. Nelson
- , Alexander Niessner
- , Teemu Niiranen
- , Michelle L. O’Donoghue
- , Anjali T. Owens
- , Colin N. A. Palmer
- , Helen M. Parry
- , Markus Perola
- , Eliana Portilla-Fernandez
- , Bruce M. Psaty
- , Goncalo Abecasis
- , Joshua Backman
- , Xiaodong Bai
- , Suganthi Balasubramanian
- , Nilanjana Banerjee
- , Aris Baras
- , Leland Barnard
- , Christina Beechert
- , Andrew Blumenfeld
- , Michael Cantor
- , Yating Chai
- , Jonathan Chung
- , Giovanni Coppola
- , Amy Damask
- , Frederick Dewey
- , Aris Economides
- , Gisu Eom
- , Caitlin Forsythe
- , Erin D. Fuller
- , Zhenhua Gu
- , Lauren Gurski
- , Paloma M. Guzzardo
- , Lukas Habegger
- , Young Hahn
- , Alicia Hawes
- , Cristopher van Hout
- , Marcus B. Jones
- , Shareef Khalid
- , Michael Lattari
- , Alexander Li
- , Nan Lin
- , Daren Liu
- , Alexander Lopez
- , Kia Manoochehri
- , Jonathan Marchini
- , Anthony Marcketta
- , Evan K. Maxwell
- , Shane McCarthy
- , Lyndon J. Mitnaul
- , Colm O’Dushlaine
- , John D. Overton
- , Maria Sotiropoulos Padilla
- , Charles Paulding
- , John Penn
- , Manasi Pradhan
- , Jeffrey G. Reid
- , Thomas D. Schleicher
- , Claudia Schurmann
- , Alan Shuldiner
- , Jeffrey C. Staples
- , Dylan Sun
- , Karina Toledo
- , Ricardo H. Ulloa
- , Louis Widom
- , Sarah E. Wolf
- , Ashish Yadav
- , Bin Ye
- , Kenneth M. Rice
- , Paul M. Ridker
- , Simon P. R. Romaine
- , Jerome I. Rotter
- , Perttu Salo
- , Veikko Salomaa
- , Jessica van Setten
- , Alaa A. Shalaby
- , Diane T. Smelser
- , Nicholas L. Smith
- , Steen Stender
- , David J. Stott
- , Per Svensson
- , Mari-Liis Tammesoo
- , Kent D. Taylor
- , Maris Teder-Laving
- , Alexander Teumer
- , Guðmundur Thorgeirsson
- , Unnur Thorsteinsdottir
- , Christian Torp-Pedersen
- , Stella Trompet
- , Benoit Tyl
- , Andre G. Uitterlinden
- , Abirami Veluchamy
- , Uwe Völker
- , Adriaan A. Voors
- , Xiaosong Wang
- , Nicholas J. Wareham
- , Dawn Waterworth
- , Peter E. Weeke
- , Raul Weiss
- , Kerri L. Wiggins
- , Heming Xing
- , Laura M. Yerges-Armstrong
- , Bing Yu
- , Faiez Zannad
- , Jing Hua Zhao
- , Harry Hemingway
- , Nilesh J. Samani
- , John J. V. McMurray
- , Jian Yang
- , Peter M. Visscher
- , Christopher Newton-Cheh
- , Anders Malarstig
- , Hilma Holm
- , Steven A. Lubitz
- , Naveed Sattar
- , Michael V. Holmes
- , Thomas P. Cappola
- , Folkert W. Asselbergs
- , Aroon D. Hingorani
- , Karoline Kuchenbaecker
- , Patrick T. Ellinor
- , Chim C. Lang
- , Kari Stefansson
- , J. Gustav Smith
- , Ramachandran S. Vasan
- , Daniel I. Swerdlow
- & R. Thomas Lumbers
Nature Communications 11 , 1–12

Rights & permissionsfor article Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure . Opens in a new window.
Research | 13 June 2018 | Open
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes
- Viktoria Gusarova
- , Colm O’Dushlaine
- , Tanya M. Teslovich
- , Peter N. Benotti
- , Tooraj Mirshahi
- , Omri Gottesman
- , Cristopher V. Van Hout
- , Michael F. Murray
- , Anubha Mahajan
- , Jonas B. Nielsen
- , Lars Fritsche
- , Anders Berg Wulff
- , Daniel F. Gudbjartsson
- , Marketa Sjögren
- , Connor A. Emdin
- , Robert A. Scott
- , Wen-Jane Lee
- , Aeron Small
- , Lydia C. Kwee
- , Om Prakash Dwivedi
- , Rashmi B. Prasad
- , Shannon Bruse
- , Alexander E. Lopez
- , John Penn
- , Anthony Marcketta
- , Joseph B. Leader
- , Christopher D. Still
- , H. Lester Kirchner
- , Uyenlinh L. Mirshahi
- , Amr H. Wardeh
- , Cassandra M. Hartle
- , Lukas Habegger
- , Samantha N. Fetterolf
- , Teresa Tusie-Luna
- , Andrew P. Morris
- , Hilma Holm
- , Valgerdur Steinthorsdottir
- , Patrick Sulem
- , Unnur Thorsteinsdottir
- , Jerome I. Rotter
- , Lee-Ming Chuang
- , Scott Damrauer
- , David Birtwell
- , Chad M. Brummett
- , Amit V. Khera
- , Pradeep Natarajan
- , Marju Orho-Melander
- , Jason Flannick
- , Luca A. Lotta
- , Cristen J. Willer
- , Oddgeir L. Holmen
- , Marylyn D. Ritchie
- , David H. Ledbetter
- , Andrew J. Murphy
- , Ingrid B. Borecki
- , Jeffrey G. Reid
- , John D. Overton
- , Ola Hansson
- , Leif Groop
- , Svati H. Shah
- , William E. Kraus
- , Daniel J. Rader
- , Yii-Der I. Chen
- , Kristian Hveem
- , Nicholas J. Wareham
- , Sekar Kathiresan
- , Olle Melander
- , Kari Stefansson
- , Børge G. Nordestgaard
- , Anne Tybjærg-Hansen
- , Goncalo R. Abecasis
- , David Altshuler
- , Jose C. Florez
- , Michael Boehnke
- , Mark I. McCarthy
- , George D. Yancopoulos
- , David J. Carey
- , Alan R. Shuldiner
- , Aris Baras
- , Frederick E. Dewey
- & Jesper Gromada
Nature Communications 9 , 1–11

Rights & permissionsfor article Genetic inactivation of <i>ANGPTL4</i> improves glucose homeostasis and is associated with reduced risk of diabetes . Opens in a new window.
20 July 2017
Genomic diagnostics within a medically underserved population: efficacy and implications
- Kevin A Strauss
- , Claudia Gonzaga-Jauregui
- , Karlla W Brigatti
- , Katie B Williams
- , Alejandra K King
- , Cristopher Van Hout
- , Donna L Robinson
- , Millie Young
- , Kavita Praveen
- , Adam D Heaps
- , Mindy Kuebler
- , Aris Baras
- , Jeffrey G Reid
- , John D Overton
- , Frederick E Dewey
- , Robert N Jinks
- , Ian Finnegan
- , Scott J Mellis
- , Alan R Shuldiner
- & Erik G Puffenberger
Genetics in Medicine 20 , 31–41

Rights & permissionsfor article Genomic diagnostics within a medically underserved population: efficacy and implications . Opens in a new window.
Research | 4 August 2013
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
- Ute I Scholl
- , Gerald Goh
- , Gabriel Stölting
- , Regina Campos de Oliveira
- , Murim Choi
- , John D Overton
- , Annabelle L Fonseca
- , Reju Korah
- , Lee F Starker
- , John W Kunstman
- , Manju L Prasad
- , Erum A Hartung
- , Nelly Mauras
- , Matthew R Benson
- , Tammy Brady
- , Jay R Shapiro
- , Erin Loring
- , Carol Nelson-Williams
- , Steven K Libutti
- , Shrikant Mane
- , Per Hellman
- , Gunnar Westin
- , Göran Åkerström
- , Peyman Björklund
- , Tobias Carling
- , Christoph Fahlke
- , Patricia Hidalgo
- & Richard P Lifton
Nature Genetics 45 , 1050–1054

Rights & permissionsfor article Somatic and germline <i>CACNA1D</i> calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism . Opens in a new window.
Research | 20 July 2015
Genomic landscape of cutaneous T cell lymphoma
- Jaehyuk Choi
- , Gerald Goh
- , Trent Walradt
- , Bok S Hong
- , Christopher G Bunick
- , Kan Chen
- , Robert D Bjornson
- , Yaakov Maman
- , Tiffany Wang
- , Jesse Tordoff
- , Kacie Carlson
- , John D Overton
- , Kristina J Liu
- , Julia M Lewis
- , Lesley Devine
- , Lisa Barbarotta
- , Francine M Foss
- , Antonio Subtil
- , Eric C Vonderheid
- , Richard L Edelson
- , David G Schatz
- , Titus J Boggon
- , Michael Girardi
- & Richard P Lifton
Nature Genetics 47 , 1011–1019

Rights & permissionsfor article Genomic landscape of cutaneous T cell lymphoma . Opens in a new window.
Research | 12 May 2013
De novo mutations in histone-modifying genes in congenital heart disease
- Samir Zaidi
- , Murim Choi
- , Hiroko Wakimoto
- , Lijiang Ma
- , Jianming Jiang
- , John D. Overton
- , Angela Romano-Adesman
- , Robert D. Bjornson
- , Roger E. Breitbart
- , Kerry K. Brown
- , Nicholas J. Carriero
- , Yee Him Cheung
- , John Deanfield
- , Steve DePalma
- , Khalid A. Fakhro
- , Joseph Glessner
- , Hakon Hakonarson
- , Michael J. Italia
- , Jonathan R. Kaltman
- , Juan Kaski
- , Richard Kim
- , Jennie K. Kline
- , Teresa Lee
- , Jeremy Leipzig
- , Alexander Lopez
- , Shrikant M. Mane
- , Laura E. Mitchell
- , Jane W. Newburger
- , Michael Parfenov
- , Itsik Pe’er
- , George Porter
- , Amy E. Roberts
- , Ravi Sachidanandam
- , Stephan J. Sanders
- , Howard S. Seiden
- , Mathew W. State
- , Sailakshmi Subramanian
- , Irina R. Tikhonova
- , Wei Wang
- , Dorothy Warburton
- , Peter S. White
- , Ismee A. Williams
- , Hongyu Zhao
- , Jonathan G. Seidman
- , Martina Brueckner
- , Wendy K. Chung
- , Bruce D. Gelb
- , Elizabeth Goldmuntz
- , Christine E. Seidman
- & Richard P. Lifton
Nature 498 , 220–223

Rights & permissionsfor article <i>De novo</i> mutations in histone-modifying genes in congenital heart disease . Opens in a new window.
Research | 31 March 2013
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
- Mathieu Lemaire
- , Véronique Frémeaux-Bacchi
- , Franz Schaefer
- , Murim Choi
- , Wai Ho Tang
- , Moglie Le Quintrec
- , Fadi Fakhouri
- , Sophie Taque
- , François Nobili
- , Frank Martinez
- , Weizhen Ji
- , John D Overton
- , Shrikant M Mane
- , Gudrun Nürnberg
- , Janine Altmüller
- , Holger Thiele
- , Denis Morin
- , Georges Deschenes
- , Véronique Baudouin
- , Brigitte Llanas
- , Laure Collard
- , Mohammed A Majid
- , Eva Simkova
- , Peter Nürnberg
- , Nathalie Rioux-Leclerc
- , Gilbert W Moeckel
- , Marie Claire Gubler
- , John Hwa
- , Chantal Loirat
- & Richard P Lifton
Nature Genetics 45 , 531–536

Rights & permissionsfor article Recessive mutations in <i>DGKE</i> cause atypical hemolytic-uremic syndrome . Opens in a new window.

Quick links