J
John B.J. Kwok
Researcher at University of Sydney
Publications - 198
Citations - 18054
John B.J. Kwok is an academic researcher from University of Sydney. The author has contributed to research in topics: Frontotemporal dementia & Genome-wide association study. The author has an hindex of 51, co-authored 184 publications receiving 15117 citations. Previous affiliations of John B.J. Kwok include Mayo Clinic & University of Cambridge.
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Journal ArticleDOI
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
Lois M. Mulligan,Lois M. Mulligan,Charis Eng,Catherine S. Healey,David Clayton,John B.J. Kwok,E. Gardner,M. A. Ponder,Andrea Frilling,Charles E. Jackson,Hendrik Lehnert,Hartmut P. H. Neumann,Stephen N. Thibodeau,Bruce A.J. Ponder +13 more
TL;DR: The data show a strong correlation between disease phenotype and the nature and position of theRET mutation, suggesting that a simple, constitutive activation of the RET tyrosine kinase is unlikely to explain the events leading to MEN 2A and FMTC.
Journal ArticleDOI
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
Vivianna M. Van Deerlin,Patrick M. A. Sleiman,Maria Martinez-Lage,Maria Martinez-Lage,Alice Chen-Plotkin,Li-San Wang,Neill R. Graff-Radford,Dennis W. Dickson,Rosa Rademakers,Bradley F. Boeve,Murray Grossman,Steven E. Arnold,David M. A. Mann,Stuart Pickering-Brown,Harro Seelaar,Peter Heutink,John C. van Swieten,Jill R. Murrell,Bernardino Ghetti,Salvatore Spina,Salvatore Spina,Jordan Grafman,John R. Hodges,Maria Grazia Spillantini,Sid Gilman,Andrew P. Lieberman,Jeffrey Kaye,Randall L. Woltjer,Eileen H. Bigio,M.-Marsel Mesulam,Safa Al-Sarraj,Claire Troakes,Roger N. Rosenberg,Charles L. White,Isidro Ferrer,Albert Lladó,Manuela Neumann,Hans A. Kretzschmar,Christine M. Hulette,Kathleen A. Welsh-Bohmer,Bruce L. Miller,Ainhoa Alzualde,Adolfo López de Munain,Ann C. McKee,Ann C. McKee,Marla Gearing,Allan I. Levey,James J. Lah,John Hardy,Jonathan D. Rohrer,Tammaryn Lashley,Ian R. A. Mackenzie,Howard Feldman,Ronald L. Hamilton,Steven T. DeKosky,Julie van der Zee,Julie van der Zee,Samir Kumar-Singh,Samir Kumar-Singh,Christine Van Broeckhoven,Christine Van Broeckhoven,Richard Mayeux,Jean Paul G. Vonsattel,Juan C. Troncoso,Jillian J. Kril,John B.J. Kwok,Glenda M. Halliday,Thomas D. Bird,Paul G. Ince,Pamela J. Shaw,Nigel J. Cairns,John C. Morris,Catriona McLean,Charles DeCarli,William G. Ellis,Stefanie H. Freeman,Matthew P. Frosch,John H. Growdon,Daniel P. Perl,Mary Sano,Mary Sano,David A. Bennett,Julie A. Schneider,Thomas G. Beach,Eric M. Reiman,Bryan K. Woodruff,Jeffrey L. Cummings,Harry V. Vinters,Carol A. Miller,Helena C. Chui,Irina Alafuzoff,Irina Alafuzoff,Päivi Hartikainen,Danielle Seilhean,Douglas Galasko,Eliezer Masliah,Carl W. Cotman,M. Teresa Tũón,M. Cristina Caballero Martínez,David G. Munoz,Steven L. Carroll,Daniel C. Marson,Peter Riederer,Nenad Bogdanovic,Gerard D. Schellenberg,Hakon Hakonarson,John Q. Trojanowski,Virginia M.-Y. Lee +107 more
TL;DR: It is found that FTLD-TDP associates with multiple SNPs mapping to a single linkage disequilibrium block on 7p21 that contains TMEM 106B, which implicate variants in TMEM106B as a strong risk factor for FTLD, suggesting an underlying pathogenic mechanism.
Journal ArticleDOI
The genetic architecture of the human cerebral cortex
Katrina L. Grasby,Neda Jahanshad,Jodie N. Painter,Lucía Colodro-Conde,Janita Bralten,Derrek P. Hibar,Penelope A. Lind,Fabrizio Pizzagalli,Christopher R.K. Ching,Mary Agnes McMahon,Natalia Shatokhina,Leo Charles Peek Zsembik,Sophia I. Thomopoulos,Alyssa H. Zhu,Lachlan T. Strike,Ingrid Agartz,Saud Alhusaini,Marcio Almeida,Dag Alnæs,Inge K Amlien,Micael Andersson,Tyler Ard,Nicola J. Armstrong,Allison E. Ashley-Koch,Joshua R. Atkins,Manon Bernard,Rachel M. Brouwer,Elizabeth E.L. Buimer,Robin Bülow,Christian Bürger,Dara M. Cannon,M. Mallar Chakravarty,Qiang Chen,Joshua W. Cheung,Baptiste Couvy-Duchesne,Anders M. Dale,Shareefa Dalvie,Tânia Kawasaki de Araujo,Greig I. de Zubicaray,Sonja M C de Zwarte,Anouk den Braber,Nhat Trung Doan,Katharina Dohm,Stefan Ehrlich,Hannah-Ruth Engelbrecht,Susanne Erk,Chun Chieh Fan,Iryna O. Fedko,Sonya Foley,Judith M. Ford,Masaki Fukunaga,Melanie E. Garrett,Tian Ge,Sudheer Giddaluru,Aaron L. Goldman,Melissa J. Green,Nynke A. Groenewold,Dominik Grotegerd,Tiril P. Gurholt,Boris A. Gutman,Narelle K. Hansell,Mathew A. Harris,Marc B. Harrison,Courtney C. Haswell,Michael A. Hauser,Stefan Herms,Dirk J. Heslenfeld,New Fei Ho,D. Hoehn,Per Hoffmann,Laurena Holleran,Martine Hoogman,Jouke-Jan Hottenga,Masashi Ikeda,Deborah Janowitz,Iris E. Jansen,Tianye Jia,Christiane Jockwitz,Ryota Kanai,Sherif Karama,Dalia Kasperaviciute,Tobias Kaufmann,Sinead Kelly,Masataka Kikuchi,Marieke Klein,Michael Knapp,Annchen R. Knodt,Bernd Kramer,Max Lam,Thomas M. Lancaster,Phil Lee,Tristram A. Lett,Lindsay B. Lewis,Iscia Lopes-Cendes,Michelle Luciano,Fabio Macciardi,Andre F. Marquand,Samuel R. Mathias,Tracy R. Melzer,Yuri Milaneschi,Nazanin Mirza-Schreiber,José C. V. Moreira,Thomas W. Mühleisen,Bertram Müller-Myhsok,Pablo Najt,Soichiro Nakahara,Kwangsik Nho,Loes M. Olde Loohuis,Dimitri Papadopoulos Orfanos,John F. Pearson,Toni L. Pitcher,Benno Pütz,Yann Quidé,Anjanibhargavi Ragothaman,Faisal Rashid,William R. Reay,Ronny Redlich,Céline S. Reinbold,Jonathan Repple,Geneviève Richard,Brandalyn C. Riedel,Shannon L. Risacher,Cristiane S. Rocha,Nina Roth Mota,Lauren E. Salminen,Arvin Saremi,Andrew J. Saykin,Fenja Schlag,Lianne Schmaal,Peter R. Schofield,Rodrigo Secolin,Chin Yang Shapland,Li Shen,Jean Shin,Elena Shumskaya,Ida E Sønderby,Emma Sprooten,Katherine E. Tansey,Alexander Teumer,Anbupalam Thalamuthu,Diana Tordesillas-Gutiérrez,Jessica A. Turner,Anne Uhlmann,Costanza L. Vallerga,Dennis van der Meer,Marjolein M. J. Van Donkelaar,Liza van Eijk,Theo G.M. van Erp,Neeltje E.M. van Haren,Daan van Rooij,Marie-José van Tol,Jan H. Veldink,Ellen Verhoef,Esther Walton,Mingyuan Wang,Yunpeng Wang,Joanna M. Wardlaw,Wei Wen,Lars T. Westlye,Christopher D. Whelan,Stephanie H. Witt,Katharina Wittfeld,Christiane Wolf,Thomas Wolfers,Jing Qin Wu,Clarissa L. Yasuda,Dario Zaremba,Zuo Zhang,Marcel P. Zwiers,Eric Artiges,Amelia A. Assareh,Rosa Ayesa-Arriola,Aysenil Belger,Christine L. Brandt,Gregory G. Brown,Sven Cichon,Joanne E. Curran,Gareth E. Davies,Franziska Degenhardt,Michelle F. Dennis,Bruno Dietsche,Srdjan Djurovic,Colin P. Doherty,Ryan Espiritu,Daniel Garijo,Yolanda Gil,Penny A. Gowland,Robert C. Green,Alexander N. Häusler,Walter Heindel,Beng-Choon Ho,Wolfgang Hoffmann,Florian Holsboer,Georg Homuth,Norbert Hosten,Clifford R. Jack,MiHyun Jang,Andreas Jansen,Nathan A. Kimbrel,Knut K. Kolskår,Sanne Koops,Axel Krug,Kelvin O. Lim,Jurjen J. Luykx,Daniel H. Mathalon,Karen A. Mather,Venkata S. Mattay,Sarah Matthews,Jaqueline Mayoral Van Son,Sarah McEwen,Ingrid Melle,Derek W. Morris,Bryon A. Mueller,Matthias Nauck,Jan Egil Nordvik,Markus M. Nöthen,Daniel S. O'Leary,Nils Opel,Marie-Laure Paillère Martinot,G. Bruce Pike,Adrian Preda,Erin Burke Quinlan,Paul E. Rasser,Varun Ratnakar,Simone Reppermund,Vidar M. Steen,Paul A. Tooney,Fábio R. Torres,Dick J. Veltman,James T. Voyvodic,Robert Whelan,Tonya White,Hidenaga Yamamori,Hieab H.H. Adams,Joshua C. Bis,Stéphanie Debette,Charles DeCarli,Myriam Fornage,Vilmundur Gudnason,Edith Hofer,M. Arfan Ikram,Lenore J. Launer,William T. Longstreth,Oscar L. Lopez,Bernard Mazoyer,Thomas H. Mosley,Gennady V. Roshchupkin,Claudia L. Satizabal,Reinhold Schmidt,Sudha Seshadri,Qiong Yang,Marina K. M. Alvim,David Ames,Tim J. Anderson,Ole A. Andreassen,Alejandro Arias-Vasquez,Mark E. Bastin,Bernhard T. Baune,Jean C. Beckham,John Blangero,Dorret I. Boomsma,Henry Brodaty,Han G. Brunner,Randy L. Buckner,Jan K. Buitelaar,Juan R. Bustillo,Wiepke Cahn,Murray J. Cairns,Vince D. Calhoun,Vaughan J. Carr,Xavier Caseras,Svenja Caspers,Gianpiero L. Cavalleri,Fernando Cendes,Aiden Corvin,Benedicto Crespo-Facorro,John C. Dalrymple-Alford,Udo Dannlowski,Eco J. C. de Geus,Ian J. Deary,Norman Delanty,Chantal Depondt,Sylvane Desrivières,Gary Donohoe,Thomas Espeseth,Guillén Fernández,Simon E. Fisher,Herta Flor,Andreas J. Forstner,Clyde Francks,Barbara Franke,David C. Glahn,Randy L. Gollub,Hans J. Grabe,Oliver Gruber,Asta Håberg,Ahmad R. Hariri,Catharina A. Hartman,Ryota Hashimoto,Andreas Heinz,Frans Henskens,Manon H.J. Hillegers,Pieter J. Hoekstra,Avram J. Holmes,L. Elliot Hong,William D. Hopkins,Hilleke E. Hulshoff Pol,Terry L. Jernigan,Erik G. Jönsson,René S. Kahn,Martin A. Kennedy,Tilo Kircher,Peter Kochunov,John B.J. Kwok,Stephanie Le Hellard,Carmel M. Loughland,Nicholas G. Martin,Jean-Luc Martinot,Colm McDonald,Katie L. McMahon,Andreas Meyer-Lindenberg,Patricia T. Michie,Rajendra A. Morey,Bryan J. Mowry,Lars Nyberg,Jaap Oosterlaan,Roel A. Ophoff,Christos Pantelis,Tomáš Paus,Zdenka Pausova,Brenda W.J.H. Penninx,Tinca J. C. Polderman,Danielle Posthuma,Marcella Rietschel,Joshua L. Roffman,Laura M. Rowland,Perminder S. Sachdev,Philipp G. Sämann,Ulrich Schall,Gunter Schumann,Rodney J. Scott,Kang Sim,Sanjay M. Sisodiya,Jordan W. Smoller,Iris E. C. Sommer,Beate St Pourcain,Dan J. Stein,Arthur W. Toga,Julian N. Trollor,Nic J.A. van der Wee,Dennis van 't Ent,Henry Völzke,Henrik Walter,Bernd Weber,Daniel R. Weinberger,Margaret J. Wright,Juan Zhou,Jason L. Stein,Paul M. Thompson,Sarah E. Medland +359 more
TL;DR: Results support the radial unit hypothesis that different developmental mechanisms promote surface area expansion and increases in thickness and find evidence that brain structure is a key phenotype along the causal pathway that leads from genetic variation to differences in general cognitive function.
Journal ArticleDOI
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
Gail Davies,Max Lam,Sarah E. Harris,Joey W. Trampush,Michelle Luciano,W. David Hill,Saskia P. Hagenaars,Saskia P. Hagenaars,Stuart J. Ritchie,Riccardo E. Marioni,Chloe Fawns-Ritchie,David C. Liewald,Judith A. Okely,Ari Ahola-Olli,Catriona L. K. Barnes,Lars Bertram,Joshua C. Bis,Katherine E. Burdick,Katherine E. Burdick,Katherine E. Burdick,Andrea Christoforou,Pamela DeRosse,Srdjan Djurovic,Srdjan Djurovic,Thomas Espeseth,Stella G. Giakoumaki,Sudheer Giddaluru,Daniel E. Gustavson,Caroline Hayward,Edith Hofer,M. Arfan Ikram,Robert Karlsson,Emma Knowles,Jari Lahti,Markus Leber,Shuo Li,Karen A. Mather,Ingrid Melle,Ingrid Melle,Derek W. Morris,Christopher Oldmeadow,Teemu Palviainen,Antony Payton,Raha Pazoki,Katja Petrovic,Chandra A. Reynolds,Muralidharan Sargurupremraj,Markus Scholz,Jennifer A. Smith,Albert V. Smith,Natalie Terzikhan,Natalie Terzikhan,Anbupalam Thalamuthu,Stella Trompet,Sven J. van der Lee,Erin B. Ware,Beverly Gwen Windham,Margaret J. Wright,Jingyun Yang,Jin Yu,David Ames,David Ames,Najaf Amin,Philippe Amouyel,Ole A. Andreassen,Nicola J. Armstrong,Amelia A. Assareh,John Attia,Deborah K. Attix,Dimitrios Avramopoulos,David A. Bennett,Anne C. Böhmer,Patricia A. Boyle,Henry Brodaty,Harry Campbell,Tyrone D. Cannon,Elizabeth T. Cirulli,Eliza Congdon,Emily Drabant Conley,Janie Corley,Simon R. Cox,Anders M. Dale,Abbas Dehghan,Danielle M. Dick,Dwight Dickinson,Johan G. Eriksson,Johan G. Eriksson,Evangelos Evangelou,Evangelos Evangelou,Jessica D. Faul,Ian Ford,Nelson A. Freimer,He Gao,Ina Giegling,Nathan A. Gillespie,Scott D. Gordon,R. F. Gottesman,Michael Griswold,Vilmundur Gudnason,Tamara B. Harris,Annette M. Hartmann,Alex Hatzimanolis,Alex Hatzimanolis,Gerardo Heiss,Elizabeth G. Holliday,Peter K. Joshi,Mika Kähönen,Sharon L.R. Kardia,Ida K. Karlsson,Luca Kleineidam,Luca Kleineidam,Luca Kleineidam,David S. Knopman,Nicole A. Kochan,Bettina Konte,John B.J. Kwok,John B.J. Kwok,Stephanie Le Hellard,Teresa Lee,Terho Lehtimäki,Shu-Chen Li,Shu-Chen Li,Tian Liu,Marisa Koini,Edythe D. London,Will Longstreth,Oscar L. Lopez,Anu Loukola,Tobias Luck,Astri J. Lundervold,Anders Lundquist,Leo-Pekka Lyytikäinen,Nicholas G. Martin,Grant W. Montgomery,Grant W. Montgomery,Alison D. Murray,Alison D. Murray,Anna C. Need,Raymond Noordam,Lars Nyberg,William Ollier,Goran Papenberg,Goran Papenberg,Alison Pattie,Ozren Polasek,Russell A. Poldrack,Bruce M. Psaty,Bruce M. Psaty,Simone Reppermund,Steffi G. Riedel-Heller,Richard J. Rose,Jerome I. Rotter,Panos Roussos,Panos Roussos,Suvi P. Rovio,Yasaman Saba,Fred W. Sabb,Perminder S. Sachdev,Claudia L. Satizabal,Claudia L. Satizabal,Matthias Schmid,Rodney J. Scott,Matthew A. Scult,Jeannette Simino,P. Eline Slagboom,Nikolaos Smyrnis,Nikolaos Smyrnis,Aicha Soumare,Nikos C. Stefanis,Nikos C. Stefanis,David J. Stott,Richard E. Straub,Kjetil Sundet,Adele M. Taylor,Kent D. Taylor,Ioanna Tzoulaki,Ioanna Tzoulaki,Christophe Tzourio,Christophe Tzourio,André G. Uitterlinden,Veronique Vitart,Aristotle N. Voineskos,Jaakko Kaprio,Jaakko Kaprio,Michael Wagner,Michael Wagner,Holger Wagner,Leonie Weinhold,K. Hoyan Wen,Elisabeth Widen,Qiong Yang,Wei Zhao,Hieab H.H. Adams,Dan E. Arking,Robert M. Bilder,Panos Bitsios,Eric Boerwinkle,Eric Boerwinkle,Ornit Chiba-Falek,Aiden Corvin,Philip L. De Jager,Philip L. De Jager,Stéphanie Debette,Stéphanie Debette,Gary Donohoe,Paul Elliott,Annette L. Fitzpatrick,Michael Gill,David C. Glahn,Sara Hägg,Narelle K. Hansell,Ahmad R. Hariri,M. Kamran Ikram,J. Wouter Jukema,Eero Vuoksimaa,Matthew C. Keller,William S. Kremen,Lenore J. Launer,Ulman Lindenberger,Aarno Palotie,Aarno Palotie,Nancy L. Pedersen,Neil Pendleton,David J. Porteous,Katri Räikkönen,Olli T. Raitakari,Alfredo Ramirez,Alfredo Ramirez,Ivar Reinvang,Igor Rudan,Dan Rujescu,Reinhold Schmidt,Helena Schmidt,Peter W. Schofield,Peter R. Schofield,Peter R. Schofield,John M. Starr,Vidar M. Steen,Julian N. Trollor,Steven T. Turner,Cornelia M. van Duijn,Arno Villringer,Arno Villringer,Daniel R. Weinberger,David R. Weir,James F. Wilson,Anil K. Malhotra,Anil K. Malhotra,Andrew M. McIntosh,Catharine R. Gale,Sudha Seshadri,Sudha Seshadri,Sudha Seshadri,Thomas H. Mosley,Jan Bressler,Todd Lencz,Todd Lencz,Ian J. Deary +257 more
TL;DR: In this paper, the authors combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci associated with general cognitive function.
Journal ArticleDOI
Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)
Gary Davies,Nicola J. Armstrong,J. C. Bis,Jan Bressler,Vincent Chouraki,Vincent Chouraki,Sudheer Giddaluru,Edith Hofer,Carla A. Ibrahim-Verbaas,Mirna Kirin,Jari Lahti,S. J. van der Lee,S. Le Hellard,Tian Liu,Riccardo E. Marioni,Riccardo E. Marioni,Christopher Oldmeadow,Iris Postmus,Albert V. Smith,Jennifer A. Smith,Anbupalam Thalamuthu,Russell Thomson,Veronique Vitart,Jing Wang,Jing Wang,Le Yu,Lina Zgaga,Lina Zgaga,Wei Zhao,Ruth Boxall,Sarah E. Harris,WD Hill,D C Liewald,Michelle Luciano,Hieab H.H. Adams,David Ames,David Ames,Najaf Amin,P. Amouyel,Amelia A. Assareh,Rhoda Au,Rhoda Au,James T. Becker,Alexa S. Beiser,Alexa S. Beiser,Claudine Berr,Claudine Berr,Lars Bertram,Lars Bertram,Eric Boerwinkle,Eric Boerwinkle,Brendan M. Buckley,Harry Campbell,Janie Corley,P. L. De Jager,P. L. De Jager,Carole Dufouil,Johan G. Eriksson,Johan G. Eriksson,Thomas Espeseth,Jessica D. Faul,Ian Ford,Generation Scotland,Rebecca F. Gottesman,Michael Griswold,Vilmundur Gudnason,T.B. Harris,Gerardo Heiss,Albert Hofman,Elizabeth G. Holliday,Jennifer E. Huffman,Sharon L.R. Kardia,Nicole A. Kochan,D. S. Knopman,John B.J. Kwok,John B.J. Kwok,Jean-Charles Lambert,Teresa Lee,Ge Li,Shu-Chen Li,Shu-Chen Li,Marisa Loitfelder,Oscar L. Lopez,Astri J. Lundervold,Astri J. Lundervold,A. Lundqvist,Karen A. Mather,Saira Saeed Mirza,Lars Nyberg,Ben A. Oostra,Aarno Palotie,Aarno Palotie,Goran Papenberg,Goran Papenberg,Alison Pattie,Katja Petrovic,Ozren Polasek,Bruce M. Psaty,Bruce M. Psaty,Paul Redmond,Simone Reppermund,Jerome I. Rotter,Helena Schmidt,Maaike Schuur,Peter W. Schofield,Rodney J. Scott,Vidar M. Steen,David J. Stott,J. C. van Swieten,K. D. Taylor,Julian N. Trollor,Stella Trompet,André G. Uitterlinden,Galit Weinstein,Galit Weinstein,Elisabeth Widen,Beverly G Windham,Johan Wouter Jukema,Alan F. Wright,Margaret J. Wright,Qiong Yang,Qiong Yang,Hélène Amieva,John Attia,David A. Bennett,Henry Brodaty,A.J.M. de Craen,Caroline Hayward,M. A. Ikram,Ulman Lindenberger,Lars-Göran Nilsson,David J. Porteous,Katri Räikkönen,Ivar Reinvang,Igor Rudan,Perminder S. Sachdev,Reinhold Schmidt,Peter R. Schofield,Peter R. Schofield,Velandai Srikanth,Velandai Srikanth,John M. Starr,Stephen T. Turner,David R. Weir,James F. Wilson,C M van Duijn,L. J. Launer,Annette L. Fitzpatrick,Sudha Seshadri,Sudha Seshadri,Thomas H. Mosley,Ian J. Deary +151 more
TL;DR: In hypothesis-driven tests, there was significant association between general cognitive function and four genes previously associated with Alzheimer’s disease: TOMM40, APOE, ABCG1 and MEF2C.