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Showing 1–19 of 19 results
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Research | | Open
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Research | | Open
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Research |
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
- Mubeen Khan
- , Stéphanie S. Cornelis
- , Marta Del Pozo-Valero
- , Laura Whelan
- , Esmee H. Runhart
- , Ketan Mishra
- , Femke Bults
- , Yahya AlSwaiti
- , Alaa AlTalbishi
- , Elfride De Baere
- , Sandro Banfi
- , Eyal Banin
- , Miriam Bauwens
- , Tamar Ben-Yosef
- , Camiel J. F. Boon
- , L. Ingeborgh van den Born
- , Sabine Defoort
- , Aurore Devos
- , Adrian Dockery
- , Lubica Dudakova
- , Ana Fakin
- , G. Jane Farrar
- , Juliana Maria Ferraz Sallum
- , Kaoru Fujinami
- , Christian Gilissen
- , Damjan Glavač
- , Michael B. Gorin
- , Jacquie Greenberg
- , Takaaki Hayashi
- , Ymkje M. Hettinga
- , Alexander Hoischen
- , Carel B. Hoyng
- , Karsten Hufendiek
- , Herbert Jägle
- , Smaragda Kamakari
- , Marianthi Karali
- , Ulrich Kellner
- , Caroline C. W. Klaver
- , Bohdan Kousal
- , Tina M. Lamey
- , Ian M. MacDonald
- , Anna Matynia
- , Terri L. McLaren
- , Marcela D. Mena
- , Isabelle Meunier
- , Rianne Miller
- , Hadas Newman
- , Buhle Ntozini
- , Monika Oldak
- , Marc Pieterse
- , Osvaldo L. Podhajcer
- , Bernard Puech
- , Raj Ramesar
- , Klaus Rüther
- , Manar Salameh
- , Mariana Vallim Salles
- , Dror Sharon
- , Francesca Simonelli
- , Georg Spital
- , Marloes Steehouwer
- , Jacek P. Szaflik
- , Jennifer A. Thompson
- , Caroline Thuillier
- , Anna M. Tracewska
- , Martine van Zweeden
- , Andrea L. Vincent
- , Xavier Zanlonghi
- , Petra Liskova
- , Heidi Stöhr
- , John N. De Roach
- , Carmen Ayuso
- , Lisa Roberts
- , Bernhard H. F. Weber
- , Claire‐Marie Dhaenens
- & Frans P. M. Cremers
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Research | | Open
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Research |
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration
- Hannes Helgason
- , Patrick Sulem
- , Maheswara R Duvvari
- , Hongrong Luo
- , Gudmar Thorleifsson
- , Hreinn Stefansson
- , Ingileif Jonsdottir
- , Gisli Masson
- , Daniel F Gudbjartsson
- , G Bragi Walters
- , Olafur Th Magnusson
- , Augustine Kong
- , Thorunn Rafnar
- , Lambertus A Kiemeney
- , Frederieke E Schoenmaker-Koller
- , Ling Zhao
- , Camiel J F Boon
- , Yaojun Song
- , Sascha Fauser
- , Michelle Pei
- , Tina Ristau
- , Shirrina Patel
- , Sandra Liakopoulos
- , Johannes P H van de Ven
- , Carel B Hoyng
- , Henry Ferreyra
- , Yaou Duan
- , Paul S Bernstein
- , Asbjorg Geirsdottir
- , Gudleif Helgadottir
- , Einar Stefansson
- , Anneke I den Hollander
- , Kang Zhang
- , Fridbert Jonasson
- , Haraldur Sigurdsson
- , Unnur Thorsteinsdottir
- & Kari Stefansson
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Research |
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
- Alessandra Maugeri
- , Kris Flothmann
- , Nadine Hemmrich
- , Sofie Ingvast
- , Paula Jorge
- , Eva Paloma
- , Reshma Patel
- , Jean-Michel Rozet
- , Jaana Tammur
- , Francesco Testa
- , Susana Balcells
- , Alan C Bird
- , Han G Brunner
- , Carel B Hoyng
- , Andres Metspalu
- , Francesca Simonelli
- , Rando Allikmets
- , Shomi S Bhattacharya
- , Michele D'Urso
- , Roser Gonzàlez-Duarte
- , Josseline Kaplan
- , Gerard J te Meerman
- , Rosário Santos
- , Marianne Schwartz
- , Guy Van Camp
- , Claes Wadelius
- , Bernhard H F Weber
- & Frans P M Cremers
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Research |
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
- Anneke I. den Hollander
- , Jacoline B. ten Brink
- , Yvette J.M. de Kok
- , Simone van Soest
- , L. Ingeborgh van den Born
- , Marc A. van Driel
- , Dorien J.R. van de Pol
- , Annette M. Payne
- , Shomi S. Bhattacharya
- , Ulrich Kellner
- , Carel B. Hoyng
- , Andries Westerveld
- , Han G. Brunner
- , Elisabeth M. Bleeker-Wagemakers
- , August F. Deutman
- , John R. Heckenlively
- , Frans P.M. Cremers
- & Arthur A.B. Bergen
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Research |
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
- Susanne Kohl
- , Balazs Varsanyi
- , Gesine Abadin Antunes
- , Britta Baumann
- , Carel B Hoyng
- , Herbert Jägle
- , Thomas Rosenberg
- , Ulrich Kellner
- , Birgit Lorenz
- , Roberto Salati
- , Bernhard Jurklies
- , Agnes Farkas
- , Sten Andreasson
- , Richard G Weleber
- , Samuel G Jacobson
- , Günther Rudolph
- , Claudio Castellan
- , Helene Dollfus
- , Eric Legius
- , Mario Anastasi
- , Pierre Bitoun
- , Dorit Lev
- , Paul A Sieving
- , Francis L Munier
- , Eberhart Zrenner
- , Lindsay T Sharpe
- , Frans P M Cremers
- & Bernd Wissinger
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Research |
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Research | | Open
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Research | | Open
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration
- Tobias Strunz
- , Susette Lauwen
- , Christina Kiel
- , Lars G. Fritsche
- , Wilmar Igl
- , Jessica N. Cooke Bailey
- , Felix Grassmann
- , Sebanti Sengupta
- , Jennifer L. Bragg-Gresham
- , Kathryn P. Burdon
- , Scott J. Hebbring
- , Cindy Wen
- , Mathias Gorski
- , Ivana K. Kim
- , David Cho
- , Donald Zack
- , Eric Souied
- , Hendrik P. N. Scholl
- , Elisa Bala
- , Kristine E. Lee
- , David J. Hunter
- , Rebecca J. Sardell
- , Paul Mitchell
- , Joanna E. Merriam
- , Valentina Cipriani
- , Joshua D. Hoffman
- , Tina Schick
- , Yara T. E. Lechanteur
- , Robyn H. Guymer
- , Matthew P. Johnson
- , Yingda Jiang
- , Chloe M. Stanton
- , Gabriëlle H. S. Buitendijk
- , Xiaowei Zhan
- , Alan M. Kwong
- , Alexis Boleda
- , Matthew Brooks
- , Linn Gieser
- , Rinki Ratnapriya
- , Kari E. Branham
- , Johanna R. Foerster
- , John R. Heckenlively
- , Mohammad I. Othman
- , Brendan J. Vote
- , Helena Hai Liang
- , Emmanuelle Souzeau
- , Ian L. McAllister
- , Timothy Isaacs
- , Janette Hall
- , Stewart Lake
- , David A. Mackey
- , Ian J. Constable
- , Jamie E. Craig
- , Terrie E. Kitchner
- , Zhenglin Yang
- , Zhiguang Su
- , Hongrong Luo
- , Daniel Chen
- , Hong Ouyang
- , Ken Flagg
- , Danni Lin
- , Guanping Mao
- , Henry Ferreyra
- , Klaus Stark
- , Claudia N. von Strachwitz
- , Armin Wolf
- , Caroline Brandl
- , Guenther Rudolph
- , Matthias Olden
- , Margaux A. Morrison
- , Denise J. Morgan
- , Matthew Schu
- , Jeeyun Ahn
- , Giuliana Silvestri
- , Evangelia E. Tsironi
- , Kyu Hyung Park
- , Lindsay A. Farrer
- , Anton Orlin
- , Alexander Brucker
- , Mingyao Li
- , Christine Curcio
- , Saddek Mohand-Saïd
- , José-Alain Sahel
- , Isabelle Audo
- , Mustapha Benchaboune
- , Angela J. Cree
- , Christina A. Rennie
- , Srinivas V. Goverdhan
- , Michelle Grunin
- , Shira Hagbi-Levi
- , Peter Campochiaro
- , Nicholas Katsanis
- , Frank G. Holz
- , Frédéric Blond
- , Hélène Blanché
- , Jean-François Deleuze
- , Robert P. Igo Jr.
- , Barbara Truitt
- , Neal S. Peachey
- , Stacy M. Meuer
- , Chelsea E. Myers
- , Emily L. Moore
- , Ronald Klein
- , Michael A. Hauser
- , Eric A. Postel
- , Monique D. Courtenay
- , Stephen G. Schwartz
- , Jaclyn L. Kovach
- , William K. Scott
- , Gerald Liew
- , Ava G. Tfan
- , Bamini Gopinath
- , John C. Merriam
- , R. Theodore Smith
- , Jane C. Khan
- , Humma Shahid
- , Anthony T. Moore
- , J. Allie McGrath
- , Reneé Laux
- , Milam A. Brantley Jr.
- , Anita Agarwal
- , Lebriz Ersoy
- , Albert Caramoy
- , Thomas Langmann
- , Nicole T. M. Saksens
- , Eiko K. de Jong
- , Carel B. Hoyng
- , Melinda S. Cain
- , Andrea J. Richardson
- , Tammy M. Martin
- , John Blangero
- , Daniel E. Weeks
- , Bal Dhillon
- , Cornelia M. van Duijn
- , Kimberly F. Doheny
- , Jane Romm
- , Caroline C. W. Klaver
- , Caroline Hayward
- , Michael B. Gorin
- , Michael L. Klein
- , Paul N. Baird
- , Anneke I. den Hollander
- , Sascha Fauser
- , John R. W. Yates
- , Rando Allikmets
- , Jie Jin Wang
- , Debra A. Schaumberg
- , Barbara E. K. Klein
- , Stephanie A. Hagstrom
- , Itay Chowers
- , Andrew J. Lotery
- , Thierry Léveillard
- , Kang Zhang
- , Murray H. Brilliant
- , Alex W. Hewitt
- , Anand Swaroop
- , Emily Y. Chew
- , Margaret A. Pericak-Vance
- , Margaret DeAngelis
- , Dwight Stambolian
- , Jonathan L. Haines
- , Sudha K. Iyengar
- , Bernhard H. F. Weber
- , Gonçalo R. Abecasis
- , Iris M. Heid
- , Anneke den Hollander
- & Bernhard H. F. Weber
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Research | | Open
Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy
- Yoshikatsu Hosoda
- , Masahiro Miyake
- , Rosa L. Schellevis
- , Camiel J. F. Boon
- , Carel B. Hoyng
- , Akiko Miki
- , Akira Meguro
- , Yoichi Sakurada
- , Seigo Yoneyama
- , Yukari Takasago
- , Masayuki Hata
- , Yuki Muraoka
- , Hideo Nakanishi
- , Akio Oishi
- , Sotaro Ooto
- , Hiroshi Tamura
- , Akihito Uji
- , Manabu Miyata
- , Ayako Takahashi
- , Naoko Ueda-Arakawa
- , Atsushi Tajima
- , Takehiro Sato
- , Nobuhisa Mizuki
- , Chieko Shiragami
- , Tomohiro Iida
- , Chiea Chuen Khor
- , Tien Yin Wong
- , Ryo Yamada
- , Shigeru Honda
- , Eiko K. de Jong
- , Anneke I. den Hollander
- , Fumihiko Matsuda
- , Kenji Yamashiro
- & Akitaka Tsujikawa
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Research | | Open
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
- Riccardo Sangermano
- , Alejandro Garanto
- , Mubeen Khan
- , Esmee H. Runhart
- , Miriam Bauwens
- , Nathalie M. Bax
- , L. Ingeborgh van den Born
- , Muhammad Imran Khan
- , Stéphanie S. Cornelis
- , Joke B. G. M. Verheij
- , Jan-Willem R. Pott
- , Alberta A. H. J. Thiadens
- , Caroline C. W. Klaver
- , Bernard Puech
- , Isabelle Meunier
- , Sarah Naessens
- , Gavin Arno
- , Ana Fakin
- , Keren J. Carss
- , F. Lucy Raymond
- , Andrew R. Webster
- , Claire-Marie Dhaenens
- , Heidi Stöhr
- , Felix Grassmann
- , Bernhard H. F. Weber
- , Carel B. Hoyng
- , Elfride De Baere
- , Silvia Albert
- , Rob W. J. Collin
- & Frans P. M. Cremers
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Research | | Open
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration
- Moeen Riaz
- , Laura Lorés-Motta
- , Andrea J. Richardson
- , Yi Lu
- , Grant Montgomery
- , Amer Omar
- , Robert K. Koenekoop
- , John Chen
- , Philipp Muether
- , Lebriz Altay
- , Tina Schick
- , Sascha Fauser
- , Dzenita Smailhodzic
- , Freekje van Asten
- , Eiko K. de Jong
- , Carel B. Hoyng
- , Kathryn P. Burdon
- , Stuart MacGregor
- , Robyn H. Guymer
- , Anneke I. den Hollander
- & Paul N. Baird
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Research |
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
- Lars G Fritsche
- , Wilmar Igl
- , Jessica N Cooke Bailey
- , Felix Grassmann
- , Sebanti Sengupta
- , Jennifer L Bragg-Gresham
- , Kathryn P Burdon
- , Scott J Hebbring
- , Cindy Wen
- , Mathias Gorski
- , Ivana K Kim
- , David Cho
- , Donald Zack
- , Eric Souied
- , Hendrik P N Scholl
- , Elisa Bala
- , Kristine E Lee
- , David J Hunter
- , Rebecca J Sardell
- , Paul Mitchell
- , Joanna E Merriam
- , Valentina Cipriani
- , Joshua D Hoffman
- , Tina Schick
- , Yara T E Lechanteur
- , Robyn H Guymer
- , Matthew P Johnson
- , Yingda Jiang
- , Chloe M Stanton
- , Gabriëlle H S Buitendijk
- , Xiaowei Zhan
- , Alan M Kwong
- , Alexis Boleda
- , Matthew Brooks
- , Linn Gieser
- , Rinki Ratnapriya
- , Kari E Branham
- , Johanna R Foerster
- , John R Heckenlively
- , Mohammad I Othman
- , Brendan J Vote
- , Helena Hai Liang
- , Emmanuelle Souzeau
- , Ian L McAllister
- , Timothy Isaacs
- , Janette Hall
- , Stewart Lake
- , David A Mackey
- , Ian J Constable
- , Jamie E Craig
- , Terrie E Kitchner
- , Zhenglin Yang
- , Zhiguang Su
- , Hongrong Luo
- , Daniel Chen
- , Hong Ouyang
- , Ken Flagg
- , Danni Lin
- , Guanping Mao
- , Henry Ferreyra
- , Klaus Stark
- , Claudia N von Strachwitz
- , Armin Wolf
- , Caroline Brandl
- , Guenther Rudolph
- , Matthias Olden
- , Margaux A Morrison
- , Denise J Morgan
- , Matthew Schu
- , Jeeyun Ahn
- , Giuliana Silvestri
- , Evangelia E Tsironi
- , Kyu Hyung Park
- , Lindsay A Farrer
- , Anton Orlin
- , Alexander Brucker
- , Mingyao Li
- , Christine A Curcio
- , Saddek Mohand-Saïd
- , José-Alain Sahel
- , Isabelle Audo
- , Mustapha Benchaboune
- , Angela J Cree
- , Christina A Rennie
- , Srinivas V Goverdhan
- , Michelle Grunin
- , Shira Hagbi-Levi
- , Peter Campochiaro
- , Nicholas Katsanis
- , Frank G Holz
- , Frédéric Blond
- , Hélène Blanché
- , Jean-François Deleuze
- , Robert P Igo Jr
- , Barbara Truitt
- , Neal S Peachey
- , Stacy M Meuer
- , Chelsea E Myers
- , Emily L Moore
- , Ronald Klein
- , Michael A Hauser
- , Eric A Postel
- , Monique D Courtenay
- , Stephen G Schwartz
- , Jaclyn L Kovach
- , William K Scott
- , Gerald Liew
- , Ava G Tan
- , Bamini Gopinath
- , John C Merriam
- , R Theodore Smith
- , Jane C Khan
- , Humma Shahid
- , Anthony T Moore
- , J Allie McGrath
- , Reneé Laux
- , Milam A Brantley Jr
- , Anita Agarwal
- , Lebriz Ersoy
- , Albert Caramoy
- , Thomas Langmann
- , Nicole T M Saksens
- , Eiko K de Jong
- , Carel B Hoyng
- , Melinda S Cain
- , Andrea J Richardson
- , Tammy M Martin
- , John Blangero
- , Daniel E Weeks
- , Bal Dhillon
- , Cornelia M van Duijn
- , Kimberly F Doheny
- , Jane Romm
- , Caroline C W Klaver
- , Caroline Hayward
- , Michael B Gorin
- , Michael L Klein
- , Paul N Baird
- , Anneke I den Hollander
- , Sascha Fauser
- , John R W Yates
- , Rando Allikmets
- , Jie Jin Wang
- , Debra A Schaumberg
- , Barbara E K Klein
- , Stephanie A Hagstrom
- , Itay Chowers
- , Andrew J Lotery
- , Thierry Léveillard
- , Kang Zhang
- , Murray H Brilliant
- , Alex W Hewitt
- , Anand Swaroop
- , Emily Y Chew
- , Margaret A Pericak-Vance
- , Margaret DeAngelis
- , Dwight Stambolian
- , Jonathan L Haines
- , Sudha K Iyengar
- , Bernhard H F Weber
- , Gonçalo R Abecasis
- & Iris M Heid
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Research |
Rare and low-frequency coding variants alter human adult height
- Eirini Marouli
- , Mariaelisa Graff
- , Carolina Medina-Gomez
- , Ken Sin Lo
- , Andrew R. Wood
- , Troels R. Kjaer
- , Rebecca S. Fine
- , Yingchang Lu
- , Claudia Schurmann
- , Heather M. Highland
- , Sina Rüeger
- , Gudmar Thorleifsson
- , Anne E. Justice
- , David Lamparter
- , Kathleen E. Stirrups
- , Valérie Turcot
- , Kristin L. Young
- , Thomas W. Winkler
- , Tõnu Esko
- , Tugce Karaderi
- , Adam E. Locke
- , Nicholas G. D. Masca
- , Maggie C. Y. Ng
- , Poorva Mudgal
- , Manuel A. Rivas
- , Sailaja Vedantam
- , Anubha Mahajan
- , Xiuqing Guo
- , Goncalo Abecasis
- , Katja K. Aben
- , Linda S. Adair
- , Dewan S. Alam
- , Eva Albrecht
- , Kristine H. Allin
- , Matthew Allison
- , Philippe Amouyel
- , Emil V. Appel
- , Dominique Arveiler
- , Folkert W. Asselbergs
- , Paul L. Auer
- , Beverley Balkau
- , Bernhard Banas
- , Lia E. Bang
- , Marianne Benn
- , Sven Bergmann
- , Lawrence F. Bielak
- , Matthias Blüher
- , Heiner Boeing
- , Eric Boerwinkle
- , Carsten A. Böger
- , Lori L. Bonnycastle
- , Jette Bork-Jensen
- , Michiel L. Bots
- , Erwin P. Bottinger
- , Donald W. Bowden
- , Ivan Brandslund
- , Gerome Breen
- , Murray H. Brilliant
- , Linda Broer
- , Amber A. Burt
- , Adam S. Butterworth
- , David J. Carey
- , Mark J. Caulfield
- , John C. Chambers
- , Daniel I. Chasman
- , Yii-Der Ida Chen
- , Rajiv Chowdhury
- , Cramer Christensen
- , Audrey Y. Chu
- , Massimiliano Cocca
- , Francis S. Collins
- , James P. Cook
- , Janie Corley
- , Jordi Corominas Galbany
- , Amanda J. Cox
- , Gabriel Cuellar-Partida
- , John Danesh
- , Gail Davies
- , Paul I. W. de Bakker
- , Gert J. de Borst
- , Simon de Denus
- , Mark C. H. de Groot
- , Renée de Mutsert
- , Ian J. Deary
- , George Dedoussis
- , Ellen W. Demerath
- , Anneke I. den Hollander
- , Joe G. Dennis
- , Emanuele Di Angelantonio
- , Fotios Drenos
- , Mengmeng Du
- , Alison M. Dunning
- , Douglas F. Easton
- , Tapani Ebeling
- , Todd L. Edwards
- , Patrick T. Ellinor
- , Paul Elliott
- , Evangelos Evangelou
- , Aliki-Eleni Farmaki
- , Jessica D. Faul
- , Mary F. Feitosa
- , Shuang Feng
- , Ele Ferrannini
- , Marco M. Ferrario
- , Jean Ferrieres
- , Jose C. Florez
- , Ian Ford
- , Myriam Fornage
- , Paul W. Franks
- , Ruth Frikke-Schmidt
- , Tessel E. Galesloot
- , Wei Gan
- , Ilaria Gandin
- , Paolo Gasparini
- , Vilmantas Giedraitis
- , Ayush Giri
- , Giorgia Girotto
- , Scott D. Gordon
- , Penny Gordon-Larsen
- , Mathias Gorski
- , Niels Grarup
- , Megan L. Grove
- , Vilmundur Gudnason
- , Stefan Gustafsson
- , Torben Hansen
- , Kathleen Mullan Harris
- , Tamara B. Harris
- , Andrew T. Hattersley
- , Caroline Hayward
- , Liang He
- , Iris M. Heid
- , Kauko Heikkilä
- , Øyvind Helgeland
- , Jussi Hernesniemi
- , Alex W. Hewitt
- , Lynne J. Hocking
- , Mette Hollensted
- , Oddgeir L. Holmen
- , G. Kees Hovingh
- , Joanna M. M. Howson
- , Carel B. Hoyng
- , Paul L. Huang
- , Kristian Hveem
- , M. Arfan Ikram
- , Erik Ingelsson
- , Anne U. Jackson
- , Jan-Håkan Jansson
- , Gail P. Jarvik
- , Gorm B. Jensen
- , Min A. Jhun
- , Yucheng Jia
- , Xuejuan Jiang
- , Stefan Johansson
- , Marit E. Jørgensen
- , Torben Jørgensen
- , Pekka Jousilahti
- , J. Wouter Jukema
- , Bratati Kahali
- , René S. Kahn
- , Mika Kähönen
- , Pia R. Kamstrup
- , Stavroula Kanoni
- , Jaakko Kaprio
- , Maria Karaleftheri
- , Sharon L. R. Kardia
- , Fredrik Karpe
- , Frank Kee
- , Renske Keeman
- , Lambertus A. Kiemeney
- , Hidetoshi Kitajima
- , Kirsten B. Kluivers
- , Thomas Kocher
- , Pirjo Komulainen
- , Jukka Kontto
- , Jaspal S. Kooner
- , Charles Kooperberg
- , Peter Kovacs
- , Jennifer Kriebel
- , Helena Kuivaniemi
- , Sébastien Küry
- , Johanna Kuusisto
- , Martina La Bianca
- , Markku Laakso
- , Timo A. Lakka
- , Ethan M. Lange
- , Leslie A. Lange
- , Carl D. Langefeld
- , Claudia Langenberg
- , Eric B. Larson
- , I-Te Lee
- , Terho Lehtimäki
- , Cora E. Lewis
- , Huaixing Li
- , Jin Li
- , Ruifang Li-Gao
- , Honghuang Lin
- , Li-An Lin
- , Xu Lin
- , Lars Lind
- , Jaana Lindström
- , Allan Linneberg
- , Yeheng Liu
- , Yongmei Liu
- , Artitaya Lophatananon
- , Jian'an Luan
- , Steven A. Lubitz
- , Leo-Pekka Lyytikäinen
- , David A. Mackey
- , Pamela A. F. Madden
- , Alisa K. Manning
- , Satu Männistö
- , Gaëlle Marenne
- , Jonathan Marten
- , Nicholas G. Martin
- , Angela L. Mazul
- , Karina Meidtner
- , Andres Metspalu
- , Paul Mitchell
- , Karen L. Mohlke
- , Dennis O. Mook-Kanamori
- , Anna Morgan
- , Andrew D. Morris
- , Andrew P. Morris
- , Martina Müller-Nurasyid
- , Patricia B. Munroe
- , Mike A. Nalls
- , Matthias Nauck
- , Christopher P. Nelson
- , Matt Neville
- , Sune F. Nielsen
- , Kjell Nikus
- , Pål R. Njølstad
- , Børge G. Nordestgaard
- , Ioanna Ntalla
- , Jeffrey R. O'Connel
- , Heikki Oksa
- , Loes M. Olde Loohuis
- , Roel A. Ophoff
- , Katharine R. Owen
- , Chris J. Packard
- , Sandosh Padmanabhan
- , Colin N. A. Palmer
- , Gerard Pasterkamp
- , Aniruddh P. Patel
- , Alison Pattie
- , Oluf Pedersen
- , Peggy L. Peissig
- , Gina M. Peloso
- , Craig E. Pennell
- , Markus Perola
- , James A. Perry
- , John R. B. Perry
- , Thomas N. Person
- , Ailith Pirie
- , Ozren Polasek
- , Danielle Posthuma
- , Olli T. Raitakari
- , Asif Rasheed
- , Rainer Rauramaa
- , Dermot F. Reilly
- , Alex P. Reiner
- , Frida Renström
- , Paul M. Ridker
- , John D. Rioux
- , Neil Robertson
- , Antonietta Robino
- , Olov Rolandsson
- , Igor Rudan
- , Katherine S. Ruth
- , Danish Saleheen
- , Veikko Salomaa
- , Nilesh J. Samani
- , Kevin Sandow
- , Yadav Sapkota
- , Naveed Sattar
- , Marjanka K. Schmidt
- , Pamela J. Schreiner
- , Matthias B. Schulze
- , Robert A. Scott
- , Marcelo P. Segura-Lepe
- , Svati Shah
- , Xueling Sim
- , Suthesh Sivapalaratnam
- , Kerrin S. Small
- , Albert Vernon Smith
- , Jennifer A. Smith
- , Lorraine Southam
- , Timothy D. Spector
- , Elizabeth K. Speliotes
- , John M. Starr
- , Valgerdur Steinthorsdottir
- , Heather M. Stringham
- , Michael Stumvoll
- , Praveen Surendran
- , Leen M. ‘t Hart
- , Katherine E. Tansey
- , Jean-Claude Tardif
- , Kent D. Taylor
- , Alexander Teumer
- , Deborah J. Thompson
- , Unnur Thorsteinsdottir
- , Betina H. Thuesen
- , Anke Tönjes
- , Gerard Tromp
- , Stella Trompet
- , Emmanouil Tsafantakis
- , Jaakko Tuomilehto
- , Anne Tybjaerg-Hansen
- , Jonathan P. Tyrer
- , Rudolf Uher
- , André G. Uitterlinden
- , Sheila Ulivi
- , Sander W. van der Laan
- , Andries R. Van Der Leij
- , Cornelia M. van Duijn
- , Natasja M. van Schoor
- , Jessica van Setten
- , Anette Varbo
- , Tibor V. Varga
- , Rohit Varma
- , Digna R. Velez Edwards
- , Sita H. Vermeulen
- , Henrik Vestergaard
- , Veronique Vitart
- , Thomas F. Vogt
- , Diego Vozzi
- , Mark Walker
- , Feijie Wang
- , Carol A. Wang
- , Shuai Wang
- , Yiqin Wang
- , Nicholas J. Wareham
- , Helen R. Warren
- , Jennifer Wessel
- , Sara M. Willems
- , James G. Wilson
- , Daniel R. Witte
- , Michael O. Woods
- , Ying Wu
- , Hanieh Yaghootkar
- , Jie Yao
- , Pang Yao
- , Laura M. Yerges-Armstrong
- , Robin Young
- , Eleftheria Zeggini
- , Xiaowei Zhan
- , Weihua Zhang
- , Jing Hua Zhao
- , Wei Zhao
- , Wei Zhao
- , He Zheng
- , Wei Zhou
- , Jerome I Rotter
- , Michael Boehnke
- , Sekar Kathiresan
- , Mark I. McCarthy
- , Cristen J. Willer
- , Kari Stefansson
- , Ingrid B. Borecki
- , Dajiang J. Liu
- , Kari E. North
- , Nancy L. Heard-Costa
- , Tune H. Pers
- , Cecilia M. Lindgren
- , Claus Oxvig
- , Zoltán Kutalik
- , Fernando Rivadeneira
- , Ruth J. F. Loos
- , Timothy M. Frayling
- , Joel N. Hirschhorn
- , Panos Deloukas
- & Guillaume Lettre
-
Research | | Open
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
- Lonneke Haer-Wigman
- , Wendy AG van Zelst-Stams
- , Rolph Pfundt
- , L Ingeborgh van den Born
- , Caroline CW Klaver
- , Joke BGM Verheij
- , Carel B Hoyng
- , Martijn H Breuning
- , Camiel JF Boon
- , Anneke J Kievit
- , Virginie JM Verhoeven
- , Jan WR Pott
- , Suzanne CEH Sallevelt
- , Johanna M van Hagen
- , Astrid S Plomp
- , Hester Y Kroes
- , Stefan H Lelieveld
- , Jayne Y Hehir-Kwa
- , Steven Castelein
- , Marcel Nelen
- , Hans Scheffer
- , Dorien Lugtenberg
- , Frans PM Cremers
- , Lies Hoefsloot
- & Helger G Yntema
-
Research |
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
- Nicole T M Saksens
- , Mark P Krebs
- , Frederieke E Schoenmaker-Koller
- , Wanda Hicks
- , Minzhong Yu
- , Lanying Shi
- , Lucy Rowe
- , Gayle B Collin
- , Jeremy R Charette
- , Stef J Letteboer
- , Kornelia Neveling
- , Tamara W van Moorsel
- , Sleiman Abu-Ltaif
- , Elfride De Baere
- , Sophie Walraedt
- , Sandro Banfi
- , Francesca Simonelli
- , Frans P M Cremers
- , Camiel J F Boon
- , Ronald Roepman
- , Bart P Leroy
- , Neal S Peachey
- , Carel B Hoyng
- , Patsy M Nishina
- & Anneke I den Hollander
-
Research |
A functional variant in the CFI gene confers a high risk of age-related macular degeneration
- Johannes P H van de Ven
- , Sara C Nilsson
- , Perciliz L Tan
- , Gabriëlle H S Buitendijk
- , Tina Ristau
- , Frida C Mohlin
- , Sander B Nabuurs
- , Frederieke E Schoenmaker-Koller
- , Dzenita Smailhodzic
- , Peter A Campochiaro
- , Donald J Zack
- , Maheswara R Duvvari
- , Bjorn Bakker
- , Codrut C Paun
- , Camiel J F Boon
- , Andre G Uitterlinden
- , Sandra Liakopoulos
- , B Jeroen Klevering
- , Sascha Fauser
- , Mohamed R Daha
- , Nicholas Katsanis
- , Caroline C W Klaver
- , Anna M Blom
- , Carel B Hoyng
- & Anneke I den Hollander
