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Amendments and Corrections | | Open
Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
- Sharissa L. Latham
- , Nadja Ehmke
- , Patrick Y. A. Reinke
- , Manuel H. Taft
- , Dorothee Eicke
- , Theresia Reindl
- , Werner Stenzel
- , Michael J. Lyons
- , Michael J. Friez
- , Jennifer A. Lee
- , Ramona Hecker
- , Michael C. Frühwald
- , Kerstin Becker
- , Teresa M. Neuhann
- , Denise Horn
- , Evelin Schrock
- , Indra Niehaus
- , Katharina Sarnow
- , Konrad Grützmann
- , Luzie Gawehn
- , Barbara Klink
- , Andreas Rump
- , Christine Chaponnier
- , Constanca Figueiredo
- , Ralf Knöfler
- , Dietmar J. Manstein
- & Nataliya Di Donato
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Research | | Open
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
- Sharissa L. Latham
- , Nadja Ehmke
- , Patrick Y. A. Reinke
- , Manuel H. Taft
- , Dorothee Eicke
- , Theresia Reindl
- , Werner Stenzel
- , Michael J. Lyons
- , Michael J. Friez
- , Jennifer A. Lee
- , Ramona Hecker
- , Michael C. Frühwald
- , Kerstin Becker
- , Teresa M. Neuhann
- , Denise Horn
- , Evelin Schrock
- , Indra Niehaus
- , Katharina Sarnow
- , Konrad Grützmann
- , Luzie Gawehn
- , Barbara Klink
- , Andreas Rump
- , Christine Chaponnier
- , Constanca Figueiredo
- , Ralf Knöfler
- , Dietmar J. Manstein
- & Nataliya Di Donato
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Research |
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
- Nataliya Di Donato
- , Andrew E Timms
- , Kimberly A Aldinger
- , Ghayda M Mirzaa
- , James T Bennett
- , Sarah Collins
- , Carissa Olds
- , Davide Mei
- , Sara Chiari
- , Gemma Carvill
- , Candace T Myers
- , Jean-Baptiste Rivière
- , Maha S Zaki
- , Joseph G Gleeson
- , Andreas Rump
- , Valerio Conti
- , Elena Parrini
- , M Elizabeth Ross
- , David H Ledbetter
- , Renzo Guerrini
- & William B Dobyns
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Research |
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
- Alain Verloes
- , Nataliya Di Donato
- , Julien Masliah-Planchon
- , Marjolijn Jongmans
- , Omar A Abdul-Raman
- , Beate Albrecht
- , Judith Allanson
- , Han Brunner
- , Debora Bertola
- , Nicolas Chassaing
- , Albert David
- , Koen Devriendt
- , Pirayeh Eftekhari
- , Valérie Drouin-Garraud
- , Francesca Faravelli
- , Laurence Faivre
- , Fabienne Giuliano
- , Leina Guion Almeida
- , Jorge Juncos
- , Marlies Kempers
- , Hatice Koçak Eker
- , Didier Lacombe
- , Angela Lin
- , Grazia Mancini
- , Daniela Melis
- , Charles Marques Lourenço
- , Victoria Mok Siu
- , Gilles Morin
- , Marjan Nezarati
- , Malgorzata J M Nowaczyk
- , Jeanette C Ramer
- , Sara Osimani
- , Nicole Philip
- , Mary Ella Pierpont
- , Vincent Procaccio
- , Zeichi-Seide Roseli
- , Massimiliano Rossi
- , Cristina Rusu
- , Yves Sznajer
- , Ludivine Templin
- , Vera Uliana
- , Mirjam Klaus
- , Bregje Van Bon
- , Conny Van Ravenswaaij
- , Bruce Wainer
- , Andrew E Fry
- , Andreas Rump
- , Alexander Hoischen
- , Séverine Drunat
- , Jean-Baptiste Rivière
- , William B Dobyns
- & Daniela T Pilz
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Research |
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
- Philomena Mburu
- , Mirna Mustapha
- , Anabel Varela
- , Dominique Weil
- , Aziz El-Amraoui
- , Ralph H Holme
- , Andreas Rump
- , Rachel E Hardisty
- , Stéphane Blanchard
- , Roney S Coimbra
- , Isabelle Perfettini
- , Nick Parkinson
- , Ann-Marie Mallon
- , Pete Glenister
- , Mike J Rogers
- , Adam J Paige
- , Lee Moir
- , Jo Clay
- , Andre Rosenthal
- , Xue Zhong Liu
- , Gonzalo Blanco
- , Karen P Steel
- , Christine Petit
- & Steve D M Brown
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Research |
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Research |
Initial sequencing and analysis of the human genome
- Eric S. Lander
- , Lauren M. Linton
- , Bruce Birren
- , Chad Nusbaum
- , Michael C. Zody
- , Jennifer Baldwin
- , Keri Devon
- , Ken Dewar
- , Michael Doyle
- , William FitzHugh
- , Roel Funke
- , Diane Gage
- , Katrina Harris
- , Andrew Heaford
- , John Howland
- , Lisa Kann
- , Jessica Lehoczky
- , Rosie LeVine
- , Paul McEwan
- , Kevin McKernan
- , James Meldrim
- , Jill P. Mesirov
- , Cher Miranda
- , William Morris
- , Jerome Naylor
- , Christina Raymond
- , Mark Rosetti
- , Ralph Santos
- , Andrew Sheridan
- , Carrie Sougnez
- , Nicole Stange-Thomann
- , Nikola Stojanovic
- , Aravind Subramanian
- , Dudley Wyman
- , Jane Rogers
- , John Sulston
- , Rachael Ainscough
- , Stephan Beck
- , David Bentley
- , John Burton
- , Christopher Clee
- , Nigel Carter
- , Alan Coulson
- , Rebecca Deadman
- , Panos Deloukas
- , Andrew Dunham
- , Ian Dunham
- , Richard Durbin
- , Lisa French
- , Darren Grafham
- , Simon Gregory
- , Tim Hubbard
- , Sean Humphray
- , Adrienne Hunt
- , Matthew Jones
- , Christine Lloyd
- , Amanda McMurray
- , Lucy Matthews
- , Simon Mercer
- , Sarah Milne
- , James C. Mullikin
- , Andrew Mungall
- , Robert Plumb
- , Mark Ross
- , Ratna Shownkeen
- , Sarah Sims
- , Robert H. Waterston
- , Richard K. Wilson
- , LaDeana W. Hillier
- , John D. McPherson
- , Marco A. Marra
- , Elaine R. Mardis
- , Lucinda A. Fulton
- , Asif T. Chinwalla
- , Kymberlie H. Pepin
- , Warren R. Gish
- , Stephanie L. Chissoe
- , Michael C. Wendl
- , Kim D. Delehaunty
- , Tracie L. Miner
- , Andrew Delehaunty
- , Jason B. Kramer
- , Lisa L. Cook
- , Robert S. Fulton
- , Douglas L. Johnson
- , Patrick J. Minx
- , Sandra W. Clifton
- , Trevor Hawkins
- , Elbert Branscomb
- , Paul Predki
- , Paul Richardson
- , Sarah Wenning
- , Tom Slezak
- , Norman Doggett
- , Jan-Fang Cheng
- , Anne Olsen
- , Susan Lucas
- , Christopher Elkin
- , Edward Uberbacher
- , Marvin Frazier
- , Richard A. Gibbs
- , Donna M. Muzny
- , Steven E. Scherer
- , John B. Bouck
- , Erica J. Sodergren
- , Kim C. Worley
- , Catherine M. Rives
- , James H. Gorrell
- , Michael L. Metzker
- , Susan L. Naylor
- , Raju S. Kucherlapati
- , David L. Nelson
- , George M. Weinstock
- , Yoshiyuki Sakaki
- , Asao Fujiyama
- , Masahira Hattori
- , Tetsushi Yada
- , Atsushi Toyoda
- , Takehiko Itoh
- , Chiharu Kawagoe
- , Hidemi Watanabe
- , Yasushi Totoki
- , Todd Taylor
- , Jean Weissenbach
- , Roland Heilig
- , William Saurin
- , Francois Artiguenave
- , Philippe Brottier
- , Thomas Bruls
- , Eric Pelletier
- , Catherine Robert
- , Patrick Wincker
- , André Rosenthal
- , Matthias Platzer
- , Gerald Nyakatura
- , Stefan Taudien
- , Andreas Rump
- , Douglas R. Smith
- , Lynn Doucette-Stamm
- , Marc Rubenfield
- , Keith Weinstock
- , Hong Mei Lee
- , JoAnn Dubois
- , Huanming Yang
- , Jun Yu
- , Jian Wang
- , Guyang Huang
- , Jun Gu
- , Leroy Hood
- , Lee Rowen
- , Anup Madan
- , Shizen Qin
- , Ronald W. Davis
- , Nancy A. Federspiel
- , A. Pia Abola
- , Michael J. Proctor
- , Bruce A. Roe
- , Feng Chen
- , Huaqin Pan
- , Juliane Ramser
- , Hans Lehrach
- , Richard Reinhardt
- , W. Richard McCombie
- , Melissa de la Bastide
- , Neilay Dedhia
- , Helmut Blöcker
- , Klaus Hornischer
- , Gabriele Nordsiek
- , Richa Agarwala
- , L. Aravind
- , Jeffrey A. Bailey
- , Alex Bateman
- , Serafim Batzoglou
- , Ewan Birney
- , Peer Bork
- , Daniel G. Brown
- , Christopher B. Burge
- , Lorenzo Cerutti
- , Hsiu-Chuan Chen
- , Deanna Church
- , Michele Clamp
- , Richard R. Copley
- , Tobias Doerks
- , Sean R. Eddy
- , Evan E. Eichler
- , Terrence S. Furey
- , James Galagan
- , James G. R. Gilbert
- , Cyrus Harmon
- , Yoshihide Hayashizaki
- , David Haussler
- , Henning Hermjakob
- , Karsten Hokamp
- , Wonhee Jang
- , L. Steven Johnson
- , Thomas A. Jones
- , Simon Kasif
- , Arek Kaspryzk
- , Scot Kennedy
- , W. James Kent
- , Paul Kitts
- , Eugene V. Koonin
- , Ian Korf
- , David Kulp
- , Doron Lancet
- , Todd M. Lowe
- , Aoife McLysaght
- , Tarjei Mikkelsen
- , John V. Moran
- , Nicola Mulder
- , Victor J. Pollara
- , Chris P. Ponting
- , Greg Schuler
- , Jörg Schultz
- , Guy Slater
- , Arian F. A. Smit
- , Elia Stupka
- , Joseph Szustakowki
- , Danielle Thierry-Mieg
- , Jean Thierry-Mieg
- , Lukas Wagner
- , John Wallis
- , Raymond Wheeler
- , Alan Williams
- , Yuri I. Wolf
- , Kenneth H. Wolfe
- , Shiaw-Pyng Yang
- , Ru-Fang Yeh
- , Francis Collins
- , Mark S. Guyer
- , Jane Peterson
- , Adam Felsenfeld
- , Kris A. Wetterstrand
- , Richard M. Myers
- , Jeremy Schmutz
- , Mark Dickson
- , Jane Grimwood
- , David R. Cox
- , Maynard V. Olson
- , Rajinder Kaul
- , Christopher Raymond
- , Nobuyoshi Shimizu
- , Kazuhiko Kawasaki
- , Shinsei Minoshima
- , Glen A. Evans
- , Maria Athanasiou
- , Roger Schultz
- , Aristides Patrinos
- & Michael J. Morgan
