Výsledky vyhledávání - Jamie Bentham

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  1. 1
    Outcomes of manually modified microvascular plugs to pulmonary flow restrictors in various congenital heart lesions

    Outcomes of manually modified microvascular plugs to pulmonary flow restrictors in various congenital heart lesions Autor Raymond N. Haddad, Jamie Bentham, Ahmed Adel Hassan, Mahmoud Al Soufi, Osama Jaber, Issam El‐Rassi, Mohamed Kasem

    Vydáno 2023
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  2. 2
    Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

    Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect Autor Lisa C.A. D’Alessandro, Saeed Al Turki, Ashok Kumar Manickaraj, Dorin Manase, Barbara J.M. Mulder, Lynn Bergin, Herschel Rosenberg, Tapas Mondal, Elaine Gordon, Jane Lougheed, John Smythe, K. Devriendt, Shoumo Bhattacharya, Hugh Watkins, Jamie Bentham, Sarah Bowdin, Matthew E. Hurles, Seema Mital

    Vydáno 2015
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  3. 3
    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability Autor Detelina Grozeva, Keren Carss, Olivera Spasić-Bošković, María‐Isabel Tejada, Jozef Gécz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend, Zaamin B. Hussain, Anna Hackett, Michael Field, Alessandra Renieri, Roger E. Stevenson, Charles E. Schwartz, James Floyd, Jamie Bentham, Catherine Cosgrove, Bernard Keavney, Shoumo Bhattacharya, Matthew E. Hurles, F. Lucy Raymond

    Vydáno 2015
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  4. 4
    Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

    Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls Autor Rachel Soemedi, Ana Töpf, Ian Wilson, Rebecca Darlay, Thahira Rahman, Elise Glen, Darroch Hall, Ni Huang, Jamie Bentham, Shoumo Bhattacharya, Catherine Cosgrove, J. David Brook, Javier T Granados-Riveron, Kerry Setchfield, Frances Bu’Lock, Chris Thornborough, Koenraad Devriendt, Jeroen Breckpot, Michael Hofbeck, Mark Lathrop, Anita Rauch, Gillian M. Blue, David S. Winlaw, Matthew E. Hurles, Mauro Santibanez‐Koref, Heather J. Cordell, Judith A. Goodship, Bernard Keavney

    Vydáno 2011
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  5. 5
    Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

    Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease Autor Rachel Soemedi, Ian Wilson, Jamie Bentham, Rebecca Darlay, Ana Töpf, Diana Zélénika, Catherine Cosgrove, Kerry Setchfield, Chris Thornborough, Javier T Granados-Riveron, Gillian M. Blue, Jeroen Breckpot, Stephen Hellens, Simon Zwolinkski, Elise Glen, Chrysovalanto Mamasoula, Thahira Rahman, Darroch Hall, Anita Rauch, Koenraad Devriendt, Marc Gewillig, John O’ Sullivan, David S. Winlaw, Frances Bu’Lock, J. David Brook, Shoumo Bhattacharya, Mark Lathrop, Mauro Santibanez‐Koref, Heather J. Cordell, Judith A. Goodship, Bernard Keavney

    Vydáno 2012
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  6. 6
    VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase<i>Pcsk5</i>

    VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase<i>Pcsk5</i> Autor Dorota Szumska, Guido Pieles, Rachid Essalmani, Michal Bilski, Daniel Mesnard, Kulvinder Kochar Kaur, Angela Franklyn, Kamel El Omari, Joanna M. Jefferis, Jamie Bentham, Jennifer M. Taylor, Jürgen E. Schneider, Sebastian J. Arnold, Paul Johnson, Zuzanna Tymowska‐Lalanne, D.K. Stammers, Kieran Clarke, Stefan Neubauer, Andrew P. Morris, Steve D. M. Brown, Charles Shaw‐Smith, Armando Cama, Valeria Capra, Jiannis Ragoussis, Daniel B. Constam, Nabil G. Seidah, Annik Prat, Shoumo Bhattacharya

    Vydáno 2008
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  7. 7
    Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

    Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot Autor Heather J. Cordell, Ana Töpf, Chrysovalanto Mamasoula, Alex V. Postma, Jamie Bentham, Diana Zélénika, Simon Heath, Gillian M. Blue, Catherine Cosgrove, Javier T Granados-Riveron, Rebecca Darlay, Rachel Soemedi, Ian Wilson, Kristin L. Ayers, Thahira Rahman, Diana Hall, Barbara J.M. Mulder, Aeilko H. Zwinderman, Klaartje van Engelen, J. David Brook, Kerry Setchfield, Frances Bu’Lock, Chris Thornborough, John O’Sullivan, Graham Stuart, J M Parsons, Shoumo Bhattacharya, David S. Winlaw, Seema Mital, Marc Gewillig, Jeroen Breckpot, Koenraad Devriendt, Antoon F.M. Moorman, Anita Rauch, G.M. Lathrop, Bernard Keavney, JA Goodship

    Vydáno 2013
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  8. 8
    Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

    Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 Autor Heather J. Cordell, Jamie Bentham, Ana Töpf, Diana Zélénika, Simon Heath, Chrysovalanto Mamasoula, Catherine Cosgrove, Gillian M. Blue, Javier T Granados-Riveron, Kerry Setchfield, Chris Thornborough, Jeroen Breckpot, Rachel Soemedi, Ruairidh Martin, Thahira Rahman, Darroch Hall, Klaartje van Engelen, Antoon F.M. Moorman, A. H. Zwinderman, Phil Barnett, Tamara T. Koopmann, Michiel Adriaens, András Varró, Alfred L. George, C. Dos Remedios, Nanette H. Bishopric, Connie R. Bezzina, John O’Sullivan, Marc Gewillig, Frances Bu’Lock, David S. Winlaw, Shoumo Bhattacharya, Koenraad Devriendt, J. David Brook, Barbara J.M. Mulder, Seema Mital, Alex V. Postma, G.M. Lathrop, Martin Farrall, Judith A. Goodship, Bernard Keavney

    Vydáno 2013
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  9. 9
    Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

    Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans Autor Saeed Al Turki, Ashok Kumar Manickaraj, Catherine L. Mercer, Sebastian S. Gerety, Marc‐Phillip Hitz, Sarah Lindsay, Lisa C.A. D’Alessandro, G. Jawahar Swaminathan, Jamie Bentham, Anne-Karin Arndt, Jacoba Louw, Jeroen Breckpot, Marc Gewillig, Bernard Thienpont, Hashim Abdul‐Khaliq, Christine Harnack, Kirstin Hoff, Hans-Heiner Kramer, Stephan Schubert, Reiner Siebert, Okan Toka, Catherine Cosgrove, Hugh Watkins, Anneke Lucassen, Anne M. Kelly, Anthony P. Salmon, Frances Bu’Lock, Javier T Granados-Riveron, Kerry Setchfield, Chris Thornborough, J. David Brook, Barbara J.M. Mulder, Sabine Klaassen, Shoumo Bhattacharya, Koenraad Devriendt, David Fitzpatrick, David I. Wilson, Seema Mital, Matthew E. Hurles

    Vydáno 2014
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  10. 10
    Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

    Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations Autor Joe Rainger, Davut Pehli̇van, Stefan Johansson, Hemant Bengani, Luis Sánchez‐Pulido, Kathleen A. Williamson, Mehmet Türe, Heather Barker, Karen Rosendahl, Jürgen W. Spranger, Denise Horn, Alison Meynert, James Floyd, Trine Prescott, Carl A. Anderson, Jacqueline K. Rainger, Ender Karaca, Claudia Gonzaga‐Jauregui, Shalini N. Jhangiani, Donna M. Muzny, Anne Seawright, Dinesh C. Soares, Mira Kharbanda, Victoria Murday, Andrew J. Finch, Richard A. Gibbs, Veronica van Heyningen, Martin S. Taylor, Tahsin Yakut, Per M. Knappskog, Matthew E. Hurles, Chris P. Ponting, James R. Lupski, Gunnar Houge, David Fitzpatrick, Matthew E. Hurles, David Fitzpatrick, Saeed Al-Turki, Carl A. Anderson, Inês Barroso, Philip L. Beales, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebhattin Cirak, Catherine Cosgrove, Allan Daly, Jamie Floyd, Chris Franklin, Marta Futema, Steve E. Humphries, Shane McCarthy, Hannah M. Mitchison, Francesco Muntoni, Alexandros Onoufriadis, Victoria Parker, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, G Black Wood

    Vydáno 2014
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  11. 11
    Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

    Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing Autor Alejandro Sifrim, Marc‐Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H. Al Turki, Bernard Thienpont, Jeremy F. McRae, Tomas Fitzgerald, Tarjinder Singh, G. Jawahar Swaminathan, Elena Prigmore, Diana Rajan, Hashim Abdul‐Khaliq, Siddharth Banka, Ulrike Bauer, Jamie Bentham, Felix Berger, Shoumo Bhattacharya, Frances Bu’Lock, Natalie Canham, Irina-Gabriela Colgiu, Catherine Cosgrove, Helen Cox, Ingo Daehnert, Allan Daly, John Danesh, Alan Fryer, Marc Gewillig, Emma Hobson, Kirstin Hoff, Tessa Homfray, Anne-Karin Kahlert, Ami Ketley, Hans-Heiner Kramer, Katherine Lachlan, Anne Katrin Lampe, Jacoba Louw, Ashok Kumar Manickara, Dorin Manase, Karen McCarthy, Kay Metcalfe, Carmel Moore, Ruth Newbury‐Ecob, Seham Osman Babiker Omer, Willem H. Ouwehand, Soo‐Mi Park, Michael Parker, Thomas Pickardt, Martin Pollard, Leema Robert, David J. Roberts, Jennifer Sambrook, Kerry Setchfield, Brigitte Stiller, Chris Thornborough, Okan Toka, Hugh Watkins, Denise Williams, Michael Wright, Seema Mital, Piers E.F. Daubeney, Bernard Keavney, Judith Goodship, Riyadh Mahdi Abu-Sulaiman, Sabine Klaassen, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Koenraad Devriendt, David Fitzpatrick, J. David Brook, Matthew E. Hurles

    Vydáno 2016
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  12. 12
    X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

    X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 Autor Chiara Olcese, Mitali Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura A. Dyer, Thomas J. Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot‐Bastaraud, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin‐Robinet, Jean‐François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, C. R. Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M.K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, M Armengot, Estelle Escudier, Claire Hogg, Saeed Al-Turki, Carl A. Anderson, Dinu Antony, Inês Barroso, Philip L. Beales, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, D. Allan, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Shane McCarthy, Dawn Muddyman, Francesco Muntoni, Victoria Parker, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison

    Vydáno 2017
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  13. 13
    A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

    A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans Autor Nicholas J. Timpson, Klaudia Walter, Josine L. Min, Ioanna Tachmazidou, Giovanni Malerba, So–Youn Shin, Lu Chen, Marta Futema, Lorraine Southam, Valentina Iotchkova, Massimiliano Cocca, Jie Huang, Yasin Memari, Shane McCarthy, Petr Danecek, Dawn Muddyman, Massimo Mangino, Cristina Menni, John R. B. Perry, Susan M. Ring, Amadou Gaye, George Dedoussis, Aliki‐Eleni Farmaki, Paul R. Burton, Philippa J. Talmud, Giovanni Gambaro, Tim D. Spector, George Davey Smith, Richard Durbin, J. Brent Richards, Steve E. Humphries, Eleftheria Zeggini, Nicole Soranzo, Saeed Al Turki, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Jeffrey C. Barrett, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Petr Danecek, George Davey Smith, Aaron Day-Williams, Ian N.M. Day, Thomas A. Down, Yuanping Du, Ian Dunham, Richard Durbin, Sarah Edkins, Peter Ellis, David M. Evans, Sadaf Faroogi, Ghazaleh Fatemifar, David Fitzpatrick, Paul Flicek, James Flyod, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Tom R. Gaunt, Matthias Geihs, Daniel Geschwind, Celia M.T. Greenwood, Heather Griffin, Detelina Grozeva, Xueqin Guo, Xiaosen Guo, Hugh Gurling, Deborah Hart

    Vydáno 2014
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  14. 14
    Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

    Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel Autor Jie Huang, Bryan Howie, Shane McCarthy, Yasin Memari, Klaudia Walter, Josine L. Min, Petr Danecek, Giovanni Malerba, Elisabetta Trabetti, Hou‐Feng Zheng, Saeed Al Turki, Antoinette Amuzu, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Bala, Jeffrey C. Barrett, Inês Barroso, Phil Beales, Marianne Benn, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Juan P. Casas, John C. Chambers, Ruth Charlton, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebahattin Çırak, Peter Clapham, Gail Clement, Guy Coates, Massimiliano Cocca, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Ian N.M. Day, Aaron Day-Williams, George Dedoussis, Thomas A. Down, Yuanping Du, Cornelia M. van Duijn, Ian Dunham, Sarah Edkins, Rosemary Ekong, Peter Ellis, David M. Evans, I. Sadaf Farooqi, David Fitzpatrick, Paul Flicek, James Floyd, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Paolo Gasparini, Tom R. Gaunt, Matthias Geihs, Daniel H. Geschwind, Celia M.T. Greenwood, Heather Griffin, Detelina Grozeva, Xiaosen Guo, Xueqin Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Jie Huang, Tim Hubbard, Steve E. Humphries, Matthew E. Hurles, Pirro G. Hysi, Valentina Iotchkova, Aaron Isaacs, David K. Jackson, Yalda Jamshidi, Jon Johnson, Christopher Joyce, Konrad J. Karczewski, Jane Kaye, Thomas Keane, John P. Kemp

    Vydáno 2015
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  15. 15
    Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

    Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity Autor Audrey E. Hendricks, Elena G. Bochukova, Gaëlle Marenne, Julia M. Keogh, Neli Atanassova, Rebecca Bounds, Eleanor Wheeler, Vanisha Mistry, Elana Henning, Antje Körner, Dawn Muddyman, Shane McCarthy, Anke Hinney, Johannes Hebebrand, Robert A. Scott, Claudia Langenberg, Nicholas J. Wareham, Praveen Surendran, Joanna M. M. Howson, Adam S. Butterworth, John Danesh, Børge G. Nordestgaard, Sune F. Nielsen, Shoaib Afzal, Sofia Papadia, Sofie Ashford, Sumedha Garg, Glenn L. Millhauser, Rafael I. Palomino, Alexandra Kwasniewska, Ioanna Tachmazidou, Stephen O’Rahilly, Eleftheria Zeggini, Inês Barroso, I. Sadaf Farooqi, Michaela Benzeval, Jonathan Burton, Nicholas Buck, Annette Jäckle, Meena Kumari, Heather Laurie, Peter Lynn, Stephen Pudney, Birgitta Rabe, Dieter Wolke, Kim Overvad, Anne Tjønneland, Francoise Clavel-Chapelon, Rudolf Kaaks, Heiner Boeing, Antonia Trichopoulou, Pietro Ferrari, Domenico Palli, Vittorio Krogha, Salvatore Panico, Rosario Tuminoa, Giuseppe Matullo, Jolanda M.A. Boer, Yvonne T. van der Schouw, Elisabete Weiderpass, J. Ramón Quirós, María‐José Sánchez, Carmen Navarro, Conchi Moreno‐Iribas, Larraitz Arriola, Olle Melander, Patrik Wennberg, Timothy J. Key, Elio Ríboli, Saeed Al Turki, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Bala, Jeffrey C. Barrett, Phil Beales, Jamie Bentham, Shoumo Bhattacharyaa, Ewan Birney, Douglas Blackwooda, Martin Bobrow, Patrick Bolton, Chris Boustred, Gerome Breen, Mattia Calissanoa, Keren Carss, Ruth Charlton, Krishna Chatterjee, Lu Chen, Antonio Ciampia, Sebahattin Çırak, Peter Clapham, Gail Clement, Guy Coates, Massimiliano Coccaa, David Collier, Catherine Cosgrove, Tony Coxa

    Vydáno 2017
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  16. 16
    Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

    Low-frequency variation in TP53 has large effects on head circumference and intracranial volume Autor Simon Haworth, Chin Yang Shapland, Caroline Hayward, Bram P. Prins, Janine F. Felix, Carolina Medina‐Gómez, Fernando Rivadeneira, Carol A. Wang, Tarunveer S. Ahluwalia, Martine Vrijheid, Mònica Guxens, Jordi Sunyer, Ioanna Tachmazidou, Klaudia Walter, Valentina Iotchkova, Andrew P. Jackson, Louise Cleal, Jennifer Huffmann, Josine L. Min, Lærke Sass, Paul R. H. J. Timmers, Saeed Al Turki, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Bala, Jeffrey C. Barrett, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Ruth Charlton, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebahattin Çırak, Peter Clapham, Gail Clement, Guy Coates, Massimiliano Cocca, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Petr Danecek, Ian N. M. Day, Aaron Day-Williams, Anna F. Dominiczak, Thomas A. Down, Yuanping Du, Ian Dunham, Richard Durbin, Sarah Edkins, Rosemary Ekong, Peter Ellis, David M. Evans, I. Sadaf Farooqi, David Fitzpatrick, Paul Flicek, James Floyd, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Tom R. Gaunt, Matthias Geihs, Daniel Geschwind, Celia M.T. Greenwood, Heather Griffin, Detelina Grozeva, Xiaosen Guo, Xueqin Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Bryan Howie, Jie Huang, Jie Huang, Tim Hubbard, Steve E. Humphries, Matthew E. Hurles, Pirro G. Hysi, David K. Jackson

    Vydáno 2019
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  17. 17
    TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport Autor Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Céline Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J.F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter Scambler, Marius Ueffing, Hülya Kayserili, Deborah Krakow, Stephen M. King, Philip L. Beales, Lihadh Al‐Gazali, Carol Wicking, Valérie Cormier‐Daire, Ronald Roepman, Hannah M. Mitchison, George B. Witman, Saeed Al-Turki, Carl E. Anderson, Richard Anney, Dinu Antony, Jennifer L. Asimit, Muhammad Ayub, J. M. Barrett, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Chris Boustred, Gerome Breen, Marie‐Jo Brion, Andrew H. Brown, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, Allan Daly, Petr Danecek, George Davey Smith, Aaron Day-Williams, Ian N.M. Day, Richard Durbin, Sarah Edkins, Peter Ellis, David A. Evans, I. Sadaf Farooqi, Ghazaleh Fatemifar, David Fitzpatrick, Paul Flicek, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Louise Gallagher, Tom R. Gaunt, Daniel H. Geschwind, Celia M.T. Greenwood, Detelina Grozeva, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Jie Huang, Steve E. Humphries, Matt Hurles, Pirro G. Hysi, David H. Jackson, Yalda Jamshidi, David Jewell, J. Janse Chris, J. F. Kaye, Thomas Keane, John P. Kemp, Karen L. Kennedy, Alastair Kent, Anja Kolb‐Kokocinski

    Vydáno 2015
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  18. 18
    Whole-genome sequence-based analysis of thyroid function

    Whole-genome sequence-based analysis of thyroid function Autor Peter Taylor, Eleonora Porcu, Shelby Chew, Purdey J. Campbell, Michela Traglia, Suzanne J. Brown, Benjamin H. Mullin, Hashem A. Shihab, Josine L. Min, Klaudia Walter, Yasin Memari, Jie Huang, Michael R. Barnes, John Beilby, Pimphen Charoen, Petr Danecek, Frank Dudbridge, Vincenzo Forgetta, Celia M.T. Greenwood, Elin Grundberg, Andrew D. Johnson, Jennie Hui, Ee Mun Lim, Shane McCarthy, Dawn Muddyman, Vijay Panicker, John R. B. Perry, Jordana T. Bell, Yuan Wei, Caroline L. Relton, Tom R. Gaunt, David Schlessinger, Gonçalo R. Abecasis, Francesco Cucca, Gabriela Surdulescu, Wolfram Woltersdorf, Eleftheria Zeggini, Hou‐Feng Zheng, Daniela Toniolo, Colin Dayan, Silvia Naitza, John P. Walsh, Tim D. Spector, George Davey Smith, Richard Durbin, J. Brent Richards, Serena Sanna, Nicole Soranzo, Nicholas J. Timpson, Scott G. Wilson, Saeed Al Turki, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Jeffrey C. Barrett, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Aaron Day-Williams, Ian N. M. Day, Thomas A. Down, Yuanping Du, Ian Dunham, Sarah Edkins, Peter Ellis, David M. Evans, Sadaf Faroogi, Ghazaleh Fatemifar, David Fitzpatrick, Paul Flicek, James Flyod

    Vydáno 2015
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  19. 19
    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

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    Vydáno 2016
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    Vydáno 2016
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