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Amendments and Corrections |
Erratum: Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
- Vikram P Sharma
- , Aimée L Fenwick
- , Mia S Brockop
- , Simon J McGowan
- , Jacqueline A C Goos
- , A Jeannette M Hoogeboom
- , Angela F Brady
- , Nu Owase Jeelani
- , Sally Ann Lynch
- , John B Mulliken
- , Dylan J Murray
- , Julie M Phipps
- , Elizabeth Sweeney
- , Susan E Tomkins
- , Louise C Wilson
- , Sophia Bennett
- , Richard J Cornall
- , John Broxholme
- , Alexander Kanapin
- , David Johnson
- , Steven A Wall
- , Peter J van der Spek
- , Irene M J Mathijssen
- , Robert E Maxson
- , Stephen R F Twigg
- & Andrew O M Wilkie
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Research |
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Research | | Open
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Research |
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Research | | Open
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
- Jacqueline A C Goos
- , Sigrid M A Swagemakers
- , Stephen R F Twigg
- , Marieke F van Dooren
- , A Jeannette M Hoogeboom
- , Christian Beetz
- , Sven Günther
- , Frank J Magielsen
- , Charlotte W Ockeloen
- , Maria A Ramos-Arroyo
- , Rolph Pfundt
- , Helger G Yntema
- , Peter J van der Spek
- , Philip Stanier
- , Dagmar Wieczorek
- , Andrew O M Wilkie
- , Ans M W van den Ouweland
- , Irene M J Mathijssen
- & Jane A Hurst
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Research |
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Research |
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
- Vikram P Sharma
- , Aimée L Fenwick
- , Mia S Brockop
- , Simon J McGowan
- , Jacqueline A C Goos
- , A Jeannette M Hoogeboom
- , Angela F Brady
- , Nu Owase Jeelani
- , Sally Ann Lynch
- , John B Mulliken
- , Dylan J Murray
- , Julie M Phipps
- , Elizabeth Sweeney
- , Susan E Tomkins
- , Louise C Wilson
- , Sophia Bennett
- , Richard J Cornall
- , John Broxholme
- , Alexander Kanapin
- , David Johnson
- , Steven A Wall
- , Peter J van der Spek
- , Irene M J Mathijssen
- , Robert E Maxson
- , Stephen R F Twigg
- & Andrew O M Wilkie
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Research |
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
- Joseph Borg
- , Petros Papadopoulos
- , Marianthi Georgitsi
- , Laura Gutiérrez
- , Godfrey Grech
- , Pavlos Fanis
- , Marios Phylactides
- , Annemieke J M H Verkerk
- , Peter J van der Spek
- , Christian A Scerri
- , Wilhelmina Cassar
- , Ruth Galdies
- , Wilfred van IJcken
- , Zeliha Özgür
- , Nynke Gillemans
- , Jun Hou
- , Marisa Bugeja
- , Frank G Grosveld
- , Marieke von Lindern
- , Alex E Felice
- , George P Patrinos
- & Sjaak Philipsen
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Research |
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
- Milly S. Tedja
- , Robert Wojciechowski
- , Pirro G. Hysi
- , Nicholas Eriksson
- , Nicholas A. Furlotte
- , Virginie J. M. Verhoeven
- , Adriana I. Iglesias
- , Magda A. Meester-Smoor
- , Stuart W. Tompson
- , Qiao Fan
- , Anthony P. Khawaja
- , Ching-Yu Cheng
- , René Höhn
- , Kenji Yamashiro
- , Adam Wenocur
- , Clare Grazal
- , Toomas Haller
- , Andres Metspalu
- , Juho Wedenoja
- , Jost B. Jonas
- , Ya Xing Wang
- , Jing Xie
- , Paul Mitchell
- , Paul J. Foster
- , Barbara E. K. Klein
- , Ronald Klein
- , Andrew D. Paterson
- , S. Mohsen Hosseini
- , Rupal L. Shah
- , Cathy Williams
- , Yik Ying Teo
- , Yih Chung Tham
- , Preeti Gupta
- , Wanting Zhao
- , Yuan Shi
- , Woei-Yuh Saw
- , E-Shyong Tai
- , Xue Ling Sim
- , Jennifer E. Huffman
- , Ozren Polašek
- , Caroline Hayward
- , Goran Bencic
- , Igor Rudan
- , James F. Wilson
- , Tin Aung
- , Amutha B. Veluchamy
- , Kathryn P. Burdon
- , Harry Campbell
- , Li Jia Chen
- , Peng Chen
- , Wei Chen
- , Emily Chew
- , Margaret M. Deangelis
- , Xiaohu Ding
- , Angela Döring
- , David M. Evans
- , Sheng Feng
- , Brian Fleck
- , Rhys D. Fogarty
- , Jeremy R. Fondran
- , Maurizio Fossarello
- , Xiaobo Guo
- , Annet E. G. Haarman
- , Mingguang He
- , Laura D. Howe
- , Sarayut Janmahasatian
- , Vishal Jhanji
- , Mika Kähönen
- , Jaakko Kaprio
- , John P. Kemp
- , Kay-Tee Khaw
- , Chiea-Chuen Khor
- , Eva Krapohl
- , Jean-François Korobelnik
- , Kris Lee
- , Shi-Ming Li
- , Yi Lu
- , Robert N. Luben
- , Kari-Matti Mäkelä
- , George McMahon
- , Akira Meguro
- , Evelin Mihailov
- , Masahiro Miyake
- , Nobuhisa Mizuki
- , Margaux Morrison
- , Vinay Nangia
- , Konrad Oexle
- , Songhomitra Panda-Jonas
- , Chi Pui Pang
- , Mario Pirastu
- , Robert Plomin
- , Taina Rantanen
- , Maria Schache
- , Ilkka Seppälä
- , George D. Smith
- , Beate St Pourcain
- , Pancy O. Tam
- , J. Willem L. Tideman
- , Nicholas J. Timpson
- , Simona Vaccargiu
- , Zoran Vatavuk
- , Jie Jin Wang
- , Ningli Wang
- , Nick J. Wareham
- , Alan F. Wright
- , Liang Xu
- , Maurice K. H. Yap
- , Seyhan Yazar
- , Shea Ping Yip
- , Nagahisa Yoshimura
- , Alvin L. Young
- , Jing Hua Zhao
- , Xiangtian Zhou
- , Michelle Agee
- , Babak Alipanahi
- , Adam Auton
- , Robert K. Bell
- , Katarzyna Bryc
- , Sarah L. Elson
- , Pierre Fontanillas
- , David A. Hinds
- , Jennifer C. McCreight
- , Karen E. Huber
- , Aaron Kleinman
- , Nadia K. Litterman
- , Matthew H. McIntyre
- , Joanna L. Mountain
- , Elizabeth S. Noblin
- , Carrie A. M. Northover
- , Steven J. Pitts
- , J. Fah Sathirapongsasuti
- , Olga V. Sazonova
- , Janie F. Shelton
- , Suyash Shringarpure
- , Chao Tian
- , Vladimir Vacic
- , Catherine H. Wilson
- , Tariq M. Aslam
- , Sarah A. Barman
- , Jenny H. Barrett
- , Paul N. Bishop
- , Peter Blows
- , Catey Bunce
- , Roxana O. Carare
- , Usha Chakravarthy
- , Michelle Chan
- , Sharon Chua
- , David Crabb
- , Alexander Day
- , Parul Desai
- , Bal Dhillon
- , Andrew D. Dick
- , Cathy A. Egan
- , Sarah Ennis
- , Marcus Fruttiger
- , John Gallacher
- , David F. Garway-Heath
- , Jane Gibson
- , Dan M. Gore
- , Alison Hardcastle
- , Simon P. Harding
- , Ruth E. Hogg
- , Pearse A. Keane
- , Peng Tee Khaw
- , Gerassimos Lascaratos
- , Andrew Lotery
- , Phil J. Luthert
- , Tom J. MacGillivray
- , Sarah L. Mackie
- , Keith R. Martin
- , Michelle McGaughey
- , Bernadette McGuinness
- , Gareth J. McKay
- , Martin McKibbin
- , Danny Mitry
- , Tony Moore
- , James E. Morgan
- , Zaynah A. Muthy
- , Eoin O’Sullivan
- , Chris Owen
- , Praveen J. Patel
- , Euan N. Paterson
- , Tunde Peto
- , Axel Petzold
- , Alicja R. Rudnicka
- , Jay E. Self
- , Sobha Sivaprasad
- , David H. W. Steel
- , Irene M. Stratton
- , Nicholas Strouthidis
- , Cathie L. M. Sudlow
- , Caroline Thaung
- , Dhanes Thomas
- , Emanuele Trucco
- , Adnan Tufail
- , Stephen A. Vernon
- , Ananth C. Viswanathan
- , Jayne V. Woodside
- , Max Yates
- , Jennifer L. Y. Yip
- , Yalin Zheng
- , Peter K. Joshi
- , Akitaka Tsujikawa
- , Fumihiko Matsuda
- , Kristina N. Whisenhunt
- , Tanja Zeller
- , Peter J. van der Spek
- , Roxanna Haak
- , Hanne Meijers-Heijboer
- , Elisabeth M. van Leeuwen
- , Sudha K. Iyengar
- , Jonathan H. Lass
- , Albert Hofman
- , Fernando Rivadeneira
- , André G. Uitterlinden
- , Johannes R. Vingerling
- , Terho Lehtimäki
- , Olli T. Raitakari
- , Ginevra Biino
- , Maria Pina Concas
- , Tae-Hwi Schwantes-An
- , Robert P. Igo Jr
- , Gabriel Cuellar-Partida
- , Nicholas G. Martin
- , Jamie E. Craig
- , Puya Gharahkhani
- , Katie M. Williams
- , Abhishek Nag
- , Jugnoo S. Rahi
- , Phillippa M. Cumberland
- , Cécile Delcourt
- , Céline Bellenguez
- , Janina S. Ried
- , Arthur A. Bergen
- , Thomas Meitinger
- , Christian Gieger
- , Tien Yin Wong
- , Alex W. Hewitt
- , David A. Mackey
- , Claire L. Simpson
- , Norbert Pfeiffer
- , Olavi Pärssinen
- , Paul N. Baird
- , Veronique Vitart
- , Najaf Amin
- , Cornelia M. van Duijn
- , Joan E. Bailey-Wilson
- , Terri L. Young
- , Seang-Mei Saw
- , Dwight Stambolian
- , Stuart MacGregor
- , Jeremy A. Guggenheim
- , Joyce Y. Tung
- , Christopher J. Hammond
- & Caroline C. W. Klaver
