Showing 1–15 of 15 results
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Research | | Open
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Amendments and Corrections |
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Research |
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Amendments and Corrections |
Correction: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
- Erica E Davis
- , Qi Zhang
- , Qin Liu
- , Bill H Diplas
- , Lisa M Davey
- , Jane Hartley
- , Corinne Stoetzel
- , Katarzyna Szymanska
- , Gokul Ramaswami
- , Clare V Logan
- , Donna M Muzny
- , Alice C Young
- , David A Wheeler
- , Pedro Cruz
- , Margaret Morgan
- , Lora R Lewis
- , Praveen Cherukuri
- , Baishali Maskeri
- , Nancy F Hansen
- , James C Mullikin
- , Robert W Blakesley
- , Gerard G Bouffard
- , Gabor Gyapay
- , Susanne Rieger
- , Burkhard Tönshoff
- , Ilse Kern
- , Neveen A Soliman
- , Thomas J Neuhaus
- , Kathryn J Swoboda
- , Hulya Kayserili
- , Tomas E Gallagher
- , Richard A Lewis
- , Carsten Bergmann
- , Edgar A Otto
- , Sophie Saunier
- , Peter J Scambler
- , Philip L Beales
- , Joseph G Gleeson
- , Eamonn R Maher
- , Tania Attié-Bitach
- , Hélène Dollfus
- , Colin A Johnson
- , Eric D Green
- , Richard A Gibbs
- , Friedhelm Hildebrandt
- , Eric A Pierce
- & Nicholas Katsanis
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Research |
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Dynamic landscape and regulation of RNA editing in mammals
- Meng How Tan
- , Qin Li
- , Raghuvaran Shanmugam
- , Robert Piskol
- , Jennefer Kohler
- , Amy N. Young
- , Kaiwen Ivy Liu
- , Rui Zhang
- , Gokul Ramaswami
- , Kentaro Ariyoshi
- , Ankita Gupte
- , Liam P. Keegan
- , Cyril X. George
- , Avinash Ramu
- , Ni Huang
- , Elizabeth A. Pollina
- , Dena S. Leeman
- , Alessandra Rustighi
- , Y. P. Sharon Goh
- , François Aguet
- , Kristin G. Ardlie
- , Beryl B. Cummings
- , Ellen T. Gelfand
- , Gad Getz
- , Kane Hadley
- , Robert E. Handsaker
- , Katherine H. Huang
- , Seva Kashin
- , Konrad J. Karczewski
- , Monkol Lek
- , Xiao Li
- , Daniel G. MacArthur
- , Jared L. Nedzel
- , Duyen T. Nguyen
- , Michael S. Noble
- , Ayellet V. Segrè
- , Casandra A. Trowbridge
- , Taru Tukiainen
- , Nathan S. Abell
- , Brunilda Balliu
- , Ruth Barshir
- , Omer Basha
- , Alexis Battle
- , Gireesh K. Bogu
- , Andrew Brown
- , Christopher D. Brown
- , Stephane E. Castel
- , Lin S. Chen
- , Colby Chiang
- , Donald F. Conrad
- , Nancy J. Cox
- , Farhan N. Damani
- , Joe R. Davis
- , Olivier Delaneau
- , Emmanouil T. Dermitzakis
- , Barbara E. Engelhardt
- , Eleazar Eskin
- , Pedro G. Ferreira
- , Laure Frésard
- , Eric R. Gamazon
- , Diego Garrido-Martín
- , Ariel D. H. Gewirtz
- , Genna Gliner
- , Michael J. Gloudemans
- , Roderic Guigo
- , Ira M. Hall
- , Buhm Han
- , Yuan He
- , Farhad Hormozdiari
- , Cedric Howald
- , Hae Kyung Im
- , Brian Jo
- , Eun Yong Kang
- , Yungil Kim
- , Sarah Kim-Hellmuth
- , Tuuli Lappalainen
- , Gen Li
- , Xin Li
- , Boxiang Liu
- , Serghei Mangul
- , Mark I. McCarthy
- , Ian C. McDowell
- , Pejman Mohammadi
- , Jean Monlong
- , Stephen B. Montgomery
- , Manuel Muñoz-Aguirre
- , Anne W. Ndungu
- , Dan L. Nicolae
- , Andrew B. Nobel
- , Meritxell Oliva
- , Halit Ongen
- , John J. Palowitch
- , Nikolaos Panousis
- , Panagiotis Papasaikas
- , YoSon Park
- , Princy Parsana
- , Anthony J. Payne
- , Christine B. Peterson
- , Jie Quan
- , Ferran Reverter
- , Chiara Sabatti
- , Ashis Saha
- , Michael Sammeth
- , Alexandra J. Scott
- , Andrey A. Shabalin
- , Reza Sodaei
- , Matthew Stephens
- , Barbara E. Stranger
- , Benjamin J. Strober
- , Jae Hoon Sul
- , Emily K. Tsang
- , Sarah Urbut
- , Martijn van de Bunt
- , Gao Wang
- , Xiaoquan Wen
- , Fred A. Wright
- , Hualin S. Xi
- , Esti Yeger-Lotem
- , Zachary Zappala
- , Judith B. Zaugg
- , Yi-Hui Zhou
- , Joshua M. Akey
- , Daniel Bates
- , Joanne Chan
- , Lin S. Chen
- , Melina Claussnitzer
- , Kathryn Demanelis
- , Morgan Diegel
- , Jennifer A. Doherty
- , Andrew P. Feinberg
- , Marian S. Fernando
- , Jessica Halow
- , Kasper D. Hansen
- , Eric Haugen
- , Peter F. Hickey
- , Lei Hou
- , Farzana Jasmine
- , Ruiqi Jian
- , Lihua Jiang
- , Audra Johnson
- , Rajinder Kaul
- , Manolis Kellis
- , Muhammad G. Kibriya
- , Kristen Lee
- , Jin Billy Li
- , Qin Li
- , Xiao Li
- , Jessica Lin
- , Shin Lin
- , Sandra Linder
- , Caroline Linke
- , Yaping Liu
- , Matthew T. Maurano
- , Benoit Molinie
- , Stephen B. Montgomery
- , Jemma Nelson
- , Fidencio J. Neri
- , Meritxell Oliva
- , Yongjin Park
- , Brandon L. Pierce
- , Nicola J. Rinaldi
- , Lindsay F. Rizzardi
- , Richard Sandstrom
- , Andrew Skol
- , Kevin S. Smith
- , Michael P. Snyder
- , John Stamatoyannopoulos
- , Barbara E. Stranger
- , Hua Tang
- , Emily K. Tsang
- , Li Wang
- , Meng Wang
- , Nicholas Van Wittenberghe
- , Fan Wu
- , Rui Zhang
- , Concepcion R. Nierras
- , Philip A. Branton
- , Latarsha J. Carithers
- , Ping Guan
- , Helen M. Moore
- , Abhi Rao
- , Jimmie B. Vaught
- , Sarah E. Gould
- , Nicole C. Lockart
- , Casey Martin
- , Jeffery P. Struewing
- , Simona Volpi
- , Anjene M. Addington
- , Susan E. Koester
- , A. Roger Little
- , Lori E. Brigham
- , Richard Hasz
- , Marcus Hunter
- , Christopher Johns
- , Mark Johnson
- , Gene Kopen
- , William F. Leinweber
- , John T. Lonsdale
- , Alisa McDonald
- , Bernadette Mestichelli
- , Kevin Myer
- , Brian Roe
- , Michael Salvatore
- , Saboor Shad
- , Jeffrey A. Thomas
- , Gary Walters
- , Michael Washington
- , Joseph Wheeler
- , Jason Bridge
- , Barbara A. Foster
- , Bryan M. Gillard
- , Ellen Karasik
- , Rachna Kumar
- , Mark Miklos
- , Michael T. Moser
- , Scott D. Jewell
- , Robert G. Montroy
- , Daniel C. Rohrer
- , Dana R. Valley
- , David A. Davis
- , Deborah C. Mash
- , Anita H. Undale
- , Anna M. Smith
- , David E. Tabor
- , Nancy V. Roche
- , Jeffrey A. McLean
- , Negin Vatanian
- , Karna L. Robinson
- , Leslie Sobin
- , Mary E. Barcus
- , Kimberly M. Valentino
- , Liqun Qi
- , Steven Hunter
- , Pushpa Hariharan
- , Shilpi Singh
- , Ki Sung Um
- , Takunda Matose
- , Maria M. Tomaszewski
- , Laura K. Barker
- , Maghboeba Mosavel
- , Laura A. Siminoff
- , Heather M. Traino
- , Paul Flicek
- , Thomas Juettemann
- , Magali Ruffier
- , Dan Sheppard
- , Kieron Taylor
- , Stephen J. Trevanion
- , Daniel R. Zerbino
- , Brian Craft
- , Mary Goldman
- , Maximilian Haeussler
- , W. James Kent
- , Christopher M. Lee
- , Benedict Paten
- , Kate R. Rosenbloom
- , John Vivian
- , Jingchun Zhu
- , Ajay Chawla
- , Giannino Del Sal
- , Gary Peltz
- , Anne Brunet
- , Donald F. Conrad
- , Charles E. Samuel
- , Mary A. O’Connell
- , Carl R. Walkley
- , Kazuko Nishikura
- & Jin Billy Li
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Research |
Molecular definition of a metastatic lung cancer state reveals a targetable CD109–Janus kinase–Stat axis
- Chen-Hua Chuang
- , Peyton G Greenside
- , Zoë N Rogers
- , Jennifer J Brady
- , Dian Yang
- , Rosanna K Ma
- , Deborah R Caswell
- , Shin-Heng Chiou
- , Aidan F Winters
- , Barbara M Grüner
- , Gokul Ramaswami
- , Andrew L Spencley
- , Kimberly E Kopecky
- , Leanne C Sayles
- , E Alejandro Sweet-Cordero
- , Jin Billy Li
- , Anshul Kundaje
- & Monte M Winslow
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Research |
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Research | | Open
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Research |
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Research |
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
- Erica E Davis
- , Qi Zhang
- , Qin Liu
- , Bill H Diplas
- , Lisa M Davey
- , Jane Hartley
- , Corinne Stoetzel
- , Katarzyna Szymanska
- , Gokul Ramaswami
- , Clare V Logan
- , Donna M Muzny
- , Alice C Young
- , David A Wheeler
- , Pedro Cruz
- , Margaret Morgan
- , Lora R Lewis
- , Praveen Cherukuri
- , Baishali Maskeri
- , Nancy F Hansen
- , James C Mullikin
- , Robert W Blakesley
- , Gerard G Bouffard
- , Gabor Gyapay
- , Susanne Rieger
- , Burkhard Tönshoff
- , Ilse Kern
- , Neveen A Soliman
- , Thomas J Neuhaus
- , Kathryn J Swoboda
- , Hulya Kayserili
- , Tomas E Gallagher
- , Richard A Lewis
- , Carsten Bergmann
- , Edgar A Otto
- , Sophie Saunier
- , Peter J Scambler
- , Philip L Beales
- , Joseph G Gleeson
- , Eamonn R Maher
- , Tania Attié-Bitach
- , Hélène Dollfus
- , Colin A Johnson
- , Eric D Green
- , Richard A Gibbs
- , Friedhelm Hildebrandt
- , Eric A Pierce
- & Nicholas Katsanis
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Research |
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
- Weibin Zhou
- , Edgar A Otto
- , Andrew Cluckey
- , Rannar Airik
- , Toby W Hurd
- , Moumita Chaki
- , Katrina Diaz
- , Francis P Lach
- , Geoffrey R Bennett
- , Heon Yung Gee
- , Amiya K Ghosh
- , Sivakumar Natarajan
- , Supawat Thongthip
- , Uma Veturi
- , Susan J Allen
- , Sabine Janssen
- , Gokul Ramaswami
- , Joanne Dixon
- , Felix Burkhalter
- , Martin Spoendlin
- , Holger Moch
- , Michael J Mihatsch
- , Jerome Verine
- , Richard Reade
- , Hany Soliman
- , Michel Godin
- , Denes Kiss
- , Guido Monga
- , Gianna Mazzucco
- , Kerstin Amann
- , Ferruh Artunc
- , Ronald C Newland
- , Thorsten Wiech
- , Stefan Zschiedrich
- , Tobias B Huber
- , Andreas Friedl
- , Gisela G Slaats
- , Jaap A Joles
- , Roel Goldschmeding
- , Joseph Washburn
- , Rachel H Giles
- , Shawn Levy
- , Agata Smogorzewska
- & Friedhelm Hildebrandt
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Research |
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
- Edgar A Otto
- , Toby W Hurd
- , Rannar Airik
- , Moumita Chaki
- , Weibin Zhou
- , Corinne Stoetzel
- , Suresh B Patil
- , Shawn Levy
- , Amiya K Ghosh
- , Carlos A Murga-Zamalloa
- , Jeroen van Reeuwijk
- , Stef J F Letteboer
- , Liyun Sang
- , Rachel H Giles
- , Qin Liu
- , Karlien L M Coene
- , Alejandro Estrada-Cuzcano
- , Rob W J Collin
- , Heather M McLaughlin
- , Susanne Held
- , Jennifer M Kasanuki
- , Gokul Ramaswami
- , Jinny Conte
- , Irma Lopez
- , Joseph Washburn
- , James MacDonald
- , Jinghua Hu
- , Yukiko Yamashita
- , Eamonn R Maher
- , Lisa M Guay-Woodford
- , Hartmut P H Neumann
- , Nicholas Obermüller
- , Robert K Koenekoop
- , Carsten Bergmann
- , Xiaoshu Bei
- , Richard A Lewis
- , Nicholas Katsanis
- , Vanda Lopes
- , David S Williams
- , Robert H Lyons
- , Chi V Dang
- , Daniela A Brito
- , Mónica Bettencourt Dias
- , Xinmin Zhang
- , James D Cavalcoli
- , Gudrun Nürnberg
- , Peter Nürnberg
- , Eric A Pierce
- , Peter K Jackson
- , Corinne Antignac
- , Sophie Saunier
- , Ronald Roepman
- , Helene Dollfus
- , Hemant Khanna
- & Friedhelm Hildebrandt
