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17 results for Chung,+Eddie+M.+K.

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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
Author / Creator:Panizzi, Jennifer R ; Becker-Heck, Anita ; Castleman, Victoria H ; Al-Mutairi, Dalal A ; Liu, Yan ; Loges, Niki T ; Pathak, Narendra ; Austin-Tse, Christina ; Sheridan, Eamonn ; Schmidts, Miriam ; Olbrich, Heike ; Werner, Claudius ; Häffner, Karsten ; Hellman, Nathan ; Chodhari, Rahul ; Gupta, Amar ; Kramer-Zucker, Albrecht ; Olale, Felix ; Burdine, Rebecca D ; Schier, Alexander F ; O'Callaghan, Christopher ; Chung, Eddie M K ; Reinhardt, Richard ; Mitchison, Hannah M ; King, Stephen M ; Omran, Heymut ; Drummond, Iain A
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-06, Vol.44 (6), p.714-719
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Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
Author / Creator:Mitchison, Hannah M ; Schmidts, Miriam ; Loges, Niki T ; Freshour, Judy ; Dritsoula, Athina ; Hirst, Rob A ; O'Callaghan, Christopher ; Blau, Hannah ; Al Dabbagh, Maha ; Olbrich, Heike ; Beales, Philip L ; Yagi, Toshiki ; Mussaffi, Huda ; Chung, Eddie M K ; Omran, Heymut ; Mitchell, David R
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-04, Vol.44 (4), p.381-389
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Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing
Author / Creator:Everett, Kate V ; Chioza, Barry A ; Georgoula, Christina ; Reece, Ashley ; Gardiner, R. Mark ; Chung, Eddie M. K
Publisher:Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag
Journal title:Human genetics, 2009-12, Vol.126 (6), p.819-831
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Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
Author / Creator:Fassad, Mahmoud R. ; Patel, Mitali P. ; Shoemark, Amelia ; Cullup, Thomas ; Hayward, Jane ; Dixon, Mellisa ; Rogers, Andrew V. ; Ollosson, Sarah ; Jackson, Claire ; Goggin, Patricia ; Hirst, Robert A. ; Rutman, Andrew ; Thompson, James ; Jenkins, Lucy ; Aurora, Paul ; Moya, Eduardo ; Chetcuti, Philip ; O'Callaghan, Chris ; Morris-Rosendahl, Deborah J ; Watson, Christopher M. ; Wilson, Robert ; Carr, Siobhan ; Walker, Woolf ; Pitno, Andreia ; Lopes, Susana ; Morsy, Heba ; Shoman, Walaa ; Pereira, Luisa ; Constant, Carolina ; Loebinger, Michael R. ; Chung, Eddie M.K. ; Kenia, Priti ; Rumman, Nisreen ; Fasseeh, Nader ; Lucas, Jane S. ; Hogg, Claire ; Mitchison, Hannah M.
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2020-05, Vol.57 (5), p.322-330
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Confirmation of two novel loci for infantile hypertrophic pyloric stenosis on chromosomes 3 and 5
Author / Creator:Everett, Kate V ; Chung, Eddie M K
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2013-04, Vol.58 (4), p.236-237
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Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation
Author / Creator:Zariwala, Maimoona A ; Leigh, Margaret W ; Ceppa, Franck ; Kennedy, Marcus P ; Noone, Peadar G ; Carson, Johnny L ; Hazucha, Milan J ; Lori, Adriana ; Horvath, Judit ; Olbrich, Heike ; Loges, Niki T ; Bridoux, Anne-Marie ; Pennarun, Gaelle ; Duriez, Benedicte ; Escudier, Estelle ; Mitchison, Hannah M ; Chodhari, Rahul ; Chung, Eddie M. K ; Morgan, Lucy C ; de Iongh, Robbert U ; Rutland, Jonathan ; Pradal, Ugo ; Omran, Heymut ; Amselem, Serge ; Knowles, Michael R
Publisher:New York, NY: Am Thoracic Soc
Journal title:American journal of respiratory and critical care medicine, 2006-10, Vol.174 (8), p.858-866
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Mutations in the DNAH11 (Axonemal Heavy Chain Dynein type 11) Gene Cause One Form of Situs Inversus Totalis and Most Likely Primary Ciliary Dyskinesia
Author / Creator:Bartoloni, Lucia ; Blouin, Jean-Louis ; Pan, Yanzhen ; Gehrig, Corinne ; Maiti, Amit K. ; Scamuffa, Nathalie ; Rossier, Colette ; Jorissen, Mark ; Armengot, Miguel ; Meeks, Maggie ; Mitchison, Hannah M. ; Eddie M. K. Chung ; Delozier-Blanchet, Celia D. ; Craigen, William J. ; Antonarakis, Stylianos E.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2002-08, Vol.99 (16), p.10282-10286
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ArticlesPeer ReviewedFull Text
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
Author / Creator:Boon, Mieke ; Wallmeier, Julia ; Ma, Lina ; Loges, Niki Tomas ; Jaspers, Martine ; Olbrich, Heike ; Dougherty, Gerard W. ; Raidt, Johanna ; Werner, Claudius ; Amirav, Israel ; Hevroni, Avigdor ; Abitbul, Revital ; Avital, Avraham ; Soferman, Ruth ; Wessels, Marja ; O’Callaghan, Christopher ; Chung, Eddie M. K. ; Rutman, Andrew ; Hirst, Robert A. ; Moya, Eduardo ; Mitchison, Hannah M. ; Van Daele, Sabine ; De Boeck, Kris ; Jorissen, Mark ; Kintner, Chris ; Cuppens, Harry ; Omran, Heymut
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2014-07, Vol.5 (1), p.4418-4418, Article 4418
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ArticlesPeer ReviewedFull Text
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
Author / Creator:Olcese, Chiara ; Patel, Mitali P. ; Shoemark, Amelia ; Kiviluoto, Santeri ; Legendre, Marie ; Williams, Hywel J. ; Vaughan, Cara K. ; Hayward, Jane ; Goldenberg, Alice ; Emes, Richard D. ; Munye, Mustafa M. ; Dyer, Laura ; Cahill, Thomas ; Bevillard, Jeremy ; Gehrig, Corinne ; Guipponi, Michel ; Chantot, Sandra ; Duquesnoy, Philippe ; Thomas, Lucie ; Jeanson, Ludovic ; Copin, Bruno ; Tamalet, Aline ; Thauvin-Robinet, Christel ; Papon, Jean- François ; Garin, Antoine ; Pin, Isabelle ; Vera, Gabriella ; Aurora, Paul ; Fassad, Mahmoud R. ; Jenkins, Lucy ; Boustred, Christopher ; Cullup, Thomas ; Dixon, Mellisa ; Onoufriadis, Alexandros ; Bush, Andrew ; Chung, Eddie M. K. ; Antonarakis, Stylianos E. ; Loebinger, Michael R. ; Wilson, Robert ; Armengot, Miguel ; Escudier, Estelle ; Hogg, Claire ; Amselem, Serge ; Sun, Zhaoxia ; Bartoloni, Lucia ; Blouin, Jean-Louis ; Mitchison, Hannah M.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-02, Vol.8 (1), p.14279-15, Article 14279
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ArticlesPeer ReviewedFull Text
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
Author / Creator:Shoemark, Amelia ; Moya, Eduardo ; Hirst, Robert A ; Patel, Mitali P ; Robson, Evelyn A ; Hayward, Jane ; Scully, Juliet ; Fassad, Mahmoud R ; Lamb, William ; Schmidts, Miriam ; Dixon, Mellisa ; Patel-King, Ramila S ; Rogers, Andrew V ; Rutman, Andrew ; Jackson, Claire L ; Goggin, Patricia ; Rubbo, Bruna ; Ollosson, Sarah ; Carr, Siobhán ; Walker, Woolf ; Adler, Beryl ; Loebinger, Michael R ; Wilson, Robert ; Bush, Andrew ; Williams, Hywel ; Boustred, Christopher ; Jenkins, Lucy ; Sheridan, Eamonn ; Chung, Eddie M K ; Watson, Christopher M ; Cullup, Thomas ; Lucas, Jane S ; Kenia, Priti ; O’Callaghan, Christopher ; King, Stephen M ; Hogg, Claire ; Mitchison, Hannah M
Publisher:England: BMJ Publishing Group LTD
Journal title:Thorax, 2018-02, Vol.73 (2), p.157-166
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ArticlesPeer ReviewedFull Text
Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24
Author / Creator:Everett, Kate V ; Capon, Francesca ; Georgoula, Christina ; Chioza, Barry A ; Reece, Ashley ; Jaswon, Mervyn ; Pierro, Agostino ; Puri, Prem ; Gardiner, R Mark ; Chung, Eddie MK
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2008-09, Vol.16 (9), p.1151-1154
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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
Author / Creator:Onoufriadis, Alexandros ; Shoemark, Amelia ; Munye, Mustafa M ; James, Chela T ; Schmidts, Miriam ; Patel, Mitali ; Rosser, Elisabeth M ; Bacchelli, Chiara ; Beales, Philip L ; Scambler, Peter J ; Hart, Stephen L ; Danke-Roelse, Jeannette E ; Sloper, John J ; Hull, Sarah ; Hogg, Claire ; Emes, Richard D ; Pals, Gerard ; Moore, Anthony T ; Chung, Eddie M K ; Mitchison, Hannah M
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-01, Vol.51 (1), p.61-67
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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
Author / Creator:Best, Sunayna ; Shoemark, Amelia ; Rubbo, Bruna ; Patel, Mitali P ; Fassad, Mahmoud R ; Dixon, Mellisa ; Rogers, Andrew V ; Hirst, Robert A ; Rutman, Andrew ; Ollosson, Sarah ; Jackson, Claire L ; Goggin, Patricia ; Thomas, Simon ; Pengelly, Reuben ; Cullup, Thomas ; Pissaridou, Eleni ; Hayward, Jane ; Onoufriadis, Alexandros ; O’Callaghan, Christopher ; Loebinger, Michael R ; Wilson, Robert ; Chung, Eddie MK ; Kenia, Priti ; Doughty, Victoria L ; Carvalho, Julene S ; Lucas, Jane S ; Mitchison, Hannah M ; Hogg, Claire
Publisher:England: BMJ Publishing Group LTD
Journal title:Thorax, 2019-02, Vol.74 (2), p.203-205
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A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24
Author / Creator:Everett, Kate V. ; Ataliotis, Paris ; Chioza, Barry A. ; Shaw-Smith, Charles ; Chung, Eddie M.K.
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2017-04, Vol.81 (4), p.632-638
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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry
Author / Creator:Olbrich, Heike ; Häffner, Karsten ; Kispert, Andreas ; Völkel, Alexander ; Volz, Andreas ; Sasmaz, Gürsel ; Reinhardt, Richard ; Hennig, Steffen ; Lehrach, Hans ; Konietzko, Nikolaus ; Zariwala, Maimoona ; Noone, Peadar G. ; Knowles, Michael ; Mitchison, Hannah M. ; Meeks, Maggie ; Chung, Eddie M.K. ; Hildebrandt, Friedhelm ; Sudbrak, Ralf ; Omran, Heymut
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2002-02, Vol.30 (2), p.143-144
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C11orf70 mutations causing primary ciliary dyskinesia disrupt a conserved step in the intraflagellar transport-dependent assembly of multiple axonemal dyneins
Author / Creator:Fassad, Mahmoud R ; Shoemark, Amelia ; Pierrick Le Borgne ; Koll, France ; Patel, Mitali ; Dixon, Mellisa ; Hayward, Jane ; Richardson, Charlotte ; Frost, Emily ; Jenkins, Lucy ; Cullup, Thomas ; Chung, Eddie M K ; Lemullois, Michel ; Aubusson-Fleury, Anne ; Hogg, Claire ; Mitchell, David R ; Tassin, Anne-Marie ; Mitchison, Hannah M
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2017-10
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Abstracts of papers presented at the seventeenth Genetics Society's Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 9 and 10 November 20...
Author / Creator:COPP, ANDREW J. ; GREENE, NICHOLAS D. E. ; FISHER, ELIZABETH M. C.
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Genetical Research, 2007-06, Vol.89 (3), p.181-188
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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

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Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

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Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing

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Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

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Confirmation of two novel loci for infantile hypertrophic pyloric stenosis on chromosomes 3 and 5

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Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation

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Mutations in the DNAH11 (Axonemal Heavy Chain Dynein type 11) Gene Cause One Form of Situs Inversus Totalis and Most Likely Primary Ciliary Dyskinesia

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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

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

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High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

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Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24

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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

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A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24

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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

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C11orf70 mutations causing primary ciliary dyskinesia disrupt a conserved step in the intraflagellar transport-dependent assembly of multiple axonemal dyneins

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Abstracts of papers presented at the seventeenth Genetics Society's Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 9 and 10 November 20...

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