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Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
- Thierry Vilboux
- , Daniel A. Doherty
- , Ian A. Glass
- , Melissa A. Parisi
- , Ian G. Phelps
- , Andrew R. Cullinane
- , Wadih Zein
- , Brian P. Brooks
- , Theo Heller
- , Ariane Soldatos
- , Neal L. Oden
- , Deniz Yildirimli
- , Meghana Vemulapalli
- , James C. Mullikin
- , NISC Comparative Sequencing Program
- , May Christine V. Malicdan
- , William A. Gahl
- & Meral Gunay-Aygun
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Recommendations for the integration of genomics into clinical practice
- Sarah Bowdin
- , Adel Gilbert
- , Emma Bedoukian
- , Christopher Carew
- , Margaret P. Adam
- , John Belmont
- , Barbara Bernhardt
- , Leslie Biesecker
- , Hans T. Bjornsson
- , Miriam Blitzer
- , Lisa C.A. D’Alessandro
- , Matthew A. Deardorff
- , Laurie Demmer
- , Alison Elliott
- , Gerald L. Feldman
- , Ian A. Glass
- , Gail Herman
- , Lucia Hindorff
- , Fuki Hisama
- , Louanne Hudgins
- , A. Micheil Innes
- , Laird Jackson
- , Gail Jarvik
- , Raymond Kim
- , Bruce Korf
- , David H. Ledbetter
- , Mindy Li
- , Eriskay Liston
- , Christian Marshall
- , Livija Medne
- , M. Stephen Meyn
- , Nasim Monfared
- , Cynthia Morton
- , John J. Mulvihill
- , Sharon E. Plon
- , Heidi Rehm
- , Amy Roberts
- , Cheryl Shuman
- , Nancy B. Spinner
- , D. James Stavropoulos
- , Kathleen Valverde
- , Darrel J. Waggoner
- , Alisha Wilkens
- , Ronald D. Cohn
- & Ian D. Krantz
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Research |
Transcriptional landscape of the prenatal human brain
- Jeremy A. Miller
- , Song-Lin Ding
- , Susan M. Sunkin
- , Kimberly A. Smith
- , Lydia Ng
- , Aaron Szafer
- , Amanda Ebbert
- , Zackery L. Riley
- , Joshua J. Royall
- , Kaylynn Aiona
- , James M. Arnold
- , Crissa Bennet
- , Darren Bertagnolli
- , Krissy Brouner
- , Stephanie Butler
- , Shiella Caldejon
- , Anita Carey
- , Christine Cuhaciyan
- , Rachel A. Dalley
- , Nick Dee
- , Tim A. Dolbeare
- , Benjamin A. C. Facer
- , David Feng
- , Tim P. Fliss
- , Garrett Gee
- , Jeff Goldy
- , Lindsey Gourley
- , Benjamin W. Gregor
- , Guangyu Gu
- , Robert E. Howard
- , Jayson M. Jochim
- , Chihchau L. Kuan
- , Christopher Lau
- , Chang-Kyu Lee
- , Felix Lee
- , Tracy A. Lemon
- , Phil Lesnar
- , Bergen McMurray
- , Naveed Mastan
- , Nerick Mosqueda
- , Theresa Naluai-Cecchini
- , Nhan-Kiet Ngo
- , Julie Nyhus
- , Aaron Oldre
- , Eric Olson
- , Jody Parente
- , Patrick D. Parker
- , Sheana E. Parry
- , Allison Stevens
- , Mihovil Pletikos
- , Melissa Reding
- , Kate Roll
- , David Sandman
- , Melaine Sarreal
- , Sheila Shapouri
- , Nadiya V. Shapovalova
- , Elaine H. Shen
- , Nathan Sjoquist
- , Clifford R. Slaughterbeck
- , Michael Smith
- , Andy J. Sodt
- , Derric Williams
- , Lilla Zöllei
- , Bruce Fischl
- , Mark B. Gerstein
- , Daniel H. Geschwind
- , Ian A. Glass
- , Michael J. Hawrylycz
- , Robert F. Hevner
- , Hao Huang
- , Allan R. Jones
- , James A. Knowles
- , Pat Levitt
- , John W. Phillips
- , Nenad Šestan
- , Paul Wohnoutka
- , Chinh Dang
- , Amy Bernard
- , John G. Hohmann
- & Ed S. Lein
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Research | | Open
Integrative analysis of 111 reference human epigenomes
- Anshul Kundaje
- , Wouter Meuleman
- , Jason Ernst
- , Misha Bilenky
- , Angela Yen
- , Alireza Heravi-Moussavi
- , Pouya Kheradpour
- , Zhizhuo Zhang
- , Jianrong Wang
- , Michael J. Ziller
- , Viren Amin
- , John W. Whitaker
- , Matthew D. Schultz
- , Lucas D. Ward
- , Abhishek Sarkar
- , Gerald Quon
- , Richard S. Sandstrom
- , Matthew L. Eaton
- , Yi-Chieh Wu
- , Andreas Pfenning
- , Xinchen Wang
- , Melina ClaussnitzerYaping Liu
- , Cristian Coarfa
- , R. Alan Harris
- , Noam Shoresh
- , Charles B. Epstein
- , Elizabeta Gjoneska
- , Danny Leung
- , Wei Xie
- , R. David Hawkins
- , Ryan Lister
- , Chibo Hong
- , Philippe Gascard
- , Andrew J. Mungall
- , Richard Moore
- , Eric Chuah
- , Angela Tam
- , Theresa K. Canfield
- , R. Scott Hansen
- , Rajinder Kaul
- , Peter J. Sabo
- , Mukul S. Bansal
- , Annaick Carles
- , Jesse R. Dixon
- , Kai-How Farh
- , Soheil Feizi
- , Rosa Karlic
- , Ah-Ram Kim
- , Ashwinikumar Kulkarni
- , Daofeng Li
- , Rebecca Lowdon
- , GiNell Elliott
- , Tim R. Mercer
- , Shane J. Neph
- , Vitor Onuchic
- , Paz Polak
- , Nisha Rajagopal
- , Pradipta Ray
- , Richard C. Sallari
- , Kyle T. Siebenthall
- , Nicholas A. Sinnott-Armstrong
- , Michael Stevens
- , Robert E. Thurman
- , Jie Wu
- , Bo Zhang
- , Xin Zhou
- , Nezar Abdennur
- , Mazhar Adli
- , Martin Akerman
- , Luis Barrera
- , Jessica Antosiewicz-Bourget
- , Tracy Ballinger
- , Michael J. Barnes
- , Daniel Bates
- , Robert J. A. Bell
- , David A. Bennett
- , Katherine Bianco
- , Christoph Bock
- , Patrick Boyle
- , Jan Brinchmann
- , Pedro Caballero-Campo
- , Raymond Camahort
- , Marlene J. Carrasco-Alfonso
- , Timothy Charnecki
- , Huaming Chen
- , Zhao Chen
- , Jeffrey B. Cheng
- , Stephanie Cho
- , Andy Chu
- , Wen-Yu Chung
- , Chad Cowan
- , Qixia Athena Deng
- , Vikram Deshpande
- , Morgan Diegel
- , Bo Ding
- , Timothy Durham
- , Lorigail Echipare
- , Lee Edsall
- , David Flowers
- , Olga Genbacev-Krtolica
- , Casey Gifford
- , Shawn Gillespie
- , Erika Giste
- , Ian A. Glass
- , Andreas Gnirke
- , Matthew Gormley
- , Hongcang Gu
- , Junchen Gu
- , David A. Hafler
- , Matthew J. Hangauer
- , Manoj Hariharan
- , Meital Hatan
- , Eric Haugen
- , Yupeng He
- , Shelly Heimfeld
- , Sarah Herlofsen
- , Zhonggang Hou
- , Richard Humbert
- , Robbyn Issner
- , Andrew R. Jackson
- , Haiyang Jia
- , Peng Jiang
- , Audra K. Johnson
- , Theresa Kadlecek
- , Baljit Kamoh
- , Mirhan Kapidzic
- , Jim Kent
- , Audrey Kim
- , Markus Kleinewietfeld
- , Sarit Klugman
- , Jayanth Krishnan
- , Samantha Kuan
- , Tanya Kutyavin
- , Ah-Young Lee
- , Kristen Lee
- , Jian Li
- , Nan Li
- , Yan Li
- , Keith L. Ligon
- , Shin Lin
- , Yiing Lin
- , Jie Liu
- , Yuxuan Liu
- , C. John Luckey
- , Yussanne P. Ma
- , Cecile Maire
- , Alexander Marson
- , John S. Mattick
- , Michael Mayo
- , Michael McMaster
- , Hayden Metsky
- , Tarjei Mikkelsen
- , Diane Miller
- , Mohammad Miri
- , Eran Mukame
- , Raman P. Nagarajan
- , Fidencio Neri
- , Joseph Nery
- , Tung Nguyen
- , Henriette O’Geen
- , Sameer Paithankar
- , Thalia Papayannopoulou
- , Mattia Pelizzola
- , Patrick Plettner
- , Nicholas E. Propson
- , Sriram Raghuraman
- , Brian J. Raney
- , Anthony Raubitschek
- , Alex P. Reynolds
- , Hunter Richards
- , Kevin Riehle
- , Paolo Rinaudo
- , Joshua F. Robinson
- , Nicole B. Rockweiler
- , Evan Rosen
- , Eric Rynes
- , Jacqueline Schein
- , Renee Sears
- , Terrence Sejnowski
- , Anthony Shafer
- , Li Shen
- , Robert Shoemaker
- , Mahvash Sigaroudinia
- , Igor Slukvin
- , Sandra Stehling-Sun
- , Ron Stewart
- , Sai Lakshmi Subramanian
- , Kran Suknuntha
- , Scott Swanson
- , Shulan Tian
- , Hannah Tilden
- , Linus Tsai
- , Mark Urich
- , Ian Vaughn
- , Jeff Vierstra
- , Shinny Vong
- , Ulrich Wagner
- , Hao Wang
- , Tao Wang
- , Yunfei Wang
- , Arthur Weiss
- , Holly Whitton
- , Andre Wildberg
- , Heather Witt
- , Kyoung-Jae Won
- , Mingchao Xie
- , Xiaoyun Xing
- , Iris Xu
- , Zhenyu Xuan
- , Zhen Ye
- , Chia-an Yen
- , Pengzhi Yu
- , Xian Zhang
- , Xiaolan Zhang
- , Jianxin Zhao
- , Yan Zhou
- , Jiang Zhu
- , Yun Zhu
- , Steven Ziegler
- , Arthur E. Beaudet
- , Laurie A. Boyer
- , Philip L. De Jager
- , Peggy J. Farnham
- , Susan J. Fisher
- , David Haussler
- , Steven J. M. Jones
- , Wei Li
- , Marco A. Marra
- , Michael T. McManus
- , Shamil Sunyaev
- , James A. Thomson
- , Thea D. Tlsty
- , Li-Huei Tsai
- , Wei Wang
- , Robert A. Waterland
- , Michael Q. Zhang
- , Lisa H. Chadwick
- , Bradley E. Bernstein
- , Joseph F. Costello
- , Joseph R. Ecker
- , Martin Hirst
- , Alexander Meissner
- , Aleksandar Milosavljevic
- , Bing Ren
- , John A. Stamatoyannopoulos
- , Ting Wang
- , Manolis Kellis
- , Anshul Kundaje
- , Wouter Meuleman
- , Jason Ernst
- , Misha Bilenky
- , Angela Yen
- , Alireza Heravi-Moussavi
- , Pouya Kheradpour
- , Zhizhuo Zhang
- , Jianrong Wang
- , Michael J. Ziller
- , Viren Amin
- , John W. Whitaker
- , Matthew D. Schultz
- , Lucas D. Ward
- , Abhishek Sarkar
- , Gerald Quon
- , Richard S. Sandstrom
- , Matthew L. Eaton
- , Yi-Chieh Wu
- , Andreas R. Pfenning
- , Xinchen Wang
- , Melina Claussnitzer
- , Yaping Liu
- , Cristian Coarfa
- , R. Alan Harris
- , Noam Shoresh
- , Charles B. Epstein
- , Elizabeta Gjoneska
- , Danny Leung
- , Wei Xie
- , R. David Hawkins
- , Ryan Lister
- , Chibo Hong
- , Philippe Gascard
- , Andrew J. Mungall
- , Richard Moore
- , Eric Chuah
- , Angela Tam
- , Theresa K. Canfield
- , R. Scott Hansen
- , Rajinder Kaul
- , Peter J. Sabo
- , Mukul S. Bansal
- , Annaick Carles
- , Jesse R. Dixon
- , Kai-How Farh
- , Soheil Feizi
- , Rosa Karlic
- , Ah-Ram Kim
- , Ashwinikumar Kulkarni
- , Daofeng Li
- , Rebecca Lowdon
- , GiNell Elliott
- , Tim R. Mercer
- , Shane J. Neph
- , Vitor Onuchic
- , Paz Polak
- , Nisha Rajagopal
- , Pradipta Ray
- , Richard C. Sallari
- , Kyle T. Siebenthall
- , Nicholas A. Sinnott-Armstrong
- , Michael Stevens
- , Robert E. Thurman
- , Jie Wu
- , Bo Zhang
- , Xin Zhou
- , Arthur E. Beaudet
- , Laurie A. Boyer
- , Philip L. De Jager
- , Peggy J. Farnham
- , Susan J. Fisher
- , David Haussler
- , Steven J. M. Jones
- , Wei Li
- , Marco A. Marra
- , Michael T. McManus
- , Shamil Sunyaev
- , James A. Thomson
- , Thea D. Tlsty
- , Li-Huei Tsai
- , Wei Wang
- , Robert A. Waterland
- , Michael Q. Zhang
- , Lisa H. Chadwick
- , Bradley E. Bernstein
- , Joseph F. Costello
- , Joseph R. Ecker
- , Martin Hirst
- , Alexander Meissner
- , Aleksandar Milosavljevic
- , Bing Ren
- , John A. Stamatoyannopoulos
- , Ting Wang
- & Manolis Kellis
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Research |
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
- John A Sayer
- , Edgar A Otto
- , John F O'Toole
- , Gudrun Nurnberg
- , Michael A Kennedy
- , Christian Becker
- , Hans Christian Hennies
- , Juliana Helou
- , Massimo Attanasio
- , Blake V Fausett
- , Boris Utsch
- , Hemant Khanna
- , Yan Liu
- , Iain Drummond
- , Isao Kawakami
- , Takehiro Kusakabe
- , Motoyuki Tsuda
- , Li Ma
- , Hwankyu Lee
- , Ronald G Larson
- , Susan J Allen
- , Christopher J Wilkinson
- , Erich A Nigg
- , Chengchao Shou
- , Concepcion Lillo
- , David S Williams
- , Bernd Hoppe
- , Markus J Kemper
- , Thomas Neuhaus
- , Melissa A Parisi
- , Ian A Glass
- , Marianne Petry
- , Andreas Kispert
- , Joachim Gloy
- , Athina Ganner
- , Gerd Walz
- , Xueliang Zhu
- , Daniel Goldman
- , Peter Nurnberg
- , Anand Swaroop
- , Michel R Leroux
- & Friedhelm Hildebrandt
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Research |
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
- Ji Eun Lee
- , Jennifer L Silhavy
- , Maha S Zaki
- , Jana Schroth
- , Stephanie L Bielas
- , Sarah E Marsh
- , Jesus Olvera
- , Francesco Brancati
- , Miriam Iannicelli
- , Koji Ikegami
- , Andrew M Schlossman
- , Barry Merriman
- , Tania Attié-Bitach
- , Clare V Logan
- , Ian A Glass
- , Andrew Cluckey
- , Carrie M Louie
- , Jeong Ho Lee
- , Hilary R Raynes
- , Isabelle Rapin
- , Ignacio P Castroviejo
- , Mitsutoshi Setou
- , Clara Barbot
- , Eugen Boltshauser
- , Stanley F Nelson
- , Friedhelm Hildebrandt
- , Colin A Johnson
- , Daniel A Doherty
- , Enza Maria Valente
- & Joseph G Gleeson
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Research |
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
- Heleen H Arts
- , Dan Doherty
- , Sylvia E C van Beersum
- , Melissa A Parisi
- , Stef J F Letteboer
- , Nicholas T Gorden
- , Theo A Peters
- , Tina Märker
- , Krysta Voesenek
- , Aileen Kartono
- , Hamit Ozyurek
- , Federico M Farin
- , Hester Y Kroes
- , Uwe Wolfrum
- , Han G Brunner
- , Frans P M Cremers
- , Ian A Glass
- , Nine V A M Knoers
- & Ronald Roepman
