Hannah M Mitchison

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 15

Top Topics

Gas Chromatography

Dna Methylation

Congenital Heart Disease

Top Venues

Science (New York, N.Y.)

European journal of human genetics : EJHG

ERJ open research

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison M Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali P Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alexander von Kriegsheim, null null, null null, null null, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A MacLeod, Donald S Urquhart, Stefan A Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science (New York, N.Y.) 384 (6694) (2024)
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison M Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali P Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alexander von Kriegsheim, null null, null null, null null, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A MacLeod, Donald S Urquhart, Stefan A Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science (New York, N.Y.) 384 (6694) (2024)
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison M Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali P Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alexander von Kriegsheim, null null, null null, null null, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A MacLeod, Donald S Urquhart, Stefan A Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science (New York, N.Y.) 384 (6694) (2024)
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison M Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali P Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alexander von Kriegsheim, null null, null null, null null, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A MacLeod, Donald S Urquhart, Stefan A Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science (New York, N.Y.) 384 (6694) (2024)
Andrew Fleming, Miranda Galey, Lizi Briggs, Matthew Edwards, Claire Hogg, Shibu John, Sam Wilkinson, Ellie Quinn, Ranjit Rai, Tom Burgoyne, Andy Rogers, Mitali P Patel, Paul Griffin, Steven Muller, Siobhán B Carr, Michael R Loebinger, Jane S A Lucas, Anand Shah, Ricardo Jose, Hannah M Mitchison, Amelia Shoemark, Danny E Miller, Deborah J Morris-Rosendahl
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia. European journal of human genetics : EJHG 32 (9) (2024)
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison M Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali P Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alexander von Kriegsheim, null null, null null, null null, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A MacLeod, Donald S Urquhart, Stefan A Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science (New York, N.Y.) 384 (6694) (2024)
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison M Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali P Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O'Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret A Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alexander von Kriegsheim, null null, null null, null null, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A MacLeod, Donald S Urquhart, Stefan A Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie P I Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science (New York, N.Y.) 384 (6694) (2024)
Andrew Fleming, Miranda Galey, Lizi Briggs, Matthew Edwards, Claire Hogg, Shibu John, Sam Wilkinson, Ellie Quinn, Ranjit Rai, Tom Burgoyne, Andy Rogers, Mitali P Patel, Paul Griffin, Steven Muller, Siobhán B Carr, Michael R Loebinger, Jane S A Lucas, Anand Shah, Ricardo Jose, Hannah M Mitchison, Amelia Shoemark, Danny E Miller, Deborah J Morris-Rosendahl
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia. European journal of human genetics : EJHG (2024)
Mahmoud R Fassad, Nisreen Rumman, Katrin Junger, Mitali P Patel, James Thompson, Patricia Goggin, Marius Ueffing, Tina Beyer, Karsten Boldt, Jane S A Lucas, Hannah M Mitchison
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations. Human molecular genetics (2023)
Zeineb Bakey, Oscar A Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W Stuck, Dimitra Micha, Thibaut Eguether, Abigail O Smith, Nicole N van der Wel, Matias Wagner, Lara Strittmatter, Philip L Beales, Julie A Jonassen, Isabelle Thiffault, Maxime Cadieux-Dion, Laura Boyes, Saba Shariff, Beyhan Tüysüz, Desiree Dunstheimer, Hans W M Niessen, William Devine, Cecelia W Lo, Hannah M Mitchison, Miriam Schmidts, Gregory J Pazour
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. medRxiv : the preprint server for health sciences (2023)
Nisreen Rumman, Mahmoud R Fassad, Corine Driessens, Patricia Goggin, Nader Abdelrahman, Adel Adwan, Mutaz Albakri, Jagrati Chopra, Regan Doherty, Bishara Fashho, Grace M Freke, Abdallah Hasaballah, Claire L Jackson, Mai A Mohamed, Reda Abu Nema, Mitali P Patel, Reuben J Pengelly, Ahmad Qaaqour, Bruna Rubbo, N Simon Thomas, James Thompson, Woolf T Walker, Gabrielle Wheway, Hannah M Mitchison, Jane S A Lucas
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum. ERJ open research 9 (2) (2023)
Dani Do Hyang Lee, Daniela Cardinale, Ersilia Nigro, Colin R Butler, Andrew Rutman, Mahmoud R Fassad, Robert A Hirst, Dale A Moulding, Alexander Agrotis, Elisabeth Forsythe, Daniel G Peckham, Evie Robson, Claire Mary Smith, Satyanarayana Somavarapu, Philip L Beales, Stephen L Hart, Samuel M Janes, Hannah M Mitchison, Robin Ketteler, Robert Edward Hynds, Christopher O'Callaghan
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia. The European respiratory journal 58 (4) (2021)
Mahmoud R Fassad, Mitali P Patel, Amelia Shoemark, Thomas Cullup, Jane Hayward, Mellisa Dixon, Andrew V Rogers, Sarah Ollosson, Claire Jackson, Patricia Goggin, Robert A Hirst, Andrew Rutman, James Thompson, Lucy Jenkins, Paul Aurora, Eduardo Moya, Philip Chetcuti, Chris O'Callaghan, Deborah J Morris-Rosendahl, Christopher Mark Watson, Robert Wilson, Siobhan Carr, Woolf Walker, Andreia Pitno, Susana Lopes, Heba Morsy, Walaa Shoman, Luisa Pereira, Carolina Constant, Michael R Loebinger, Eddie M K Chung, Priti Kenia, Nisreen Rumman, Nader Fasseeh, Jane S Lucas, Claire Hogg, Hannah M Mitchison
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort. Journal of medical genetics 57 (5) (2019)
Mahmoud R Fassad, Walaa I Shoman, Heba Morsy, Mitali P Patel, Nesrine Radwan, Lucy Jenkins, Thomas Cullup, Eman Fouda, Hannah M Mitchison, Nader Fasseeh
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. Clinical genetics 97 (3) (2019)
Sunayna Best, Amelia Shoemark, Bruna Rubbo, Mitali P Patel, Mahmoud R Fassad, Mellisa Dixon, Andrew V Rogers, Robert A Hirst, Andrew Rutman, Sarah Ollosson, Claire L Jackson, Patricia Goggin, Simon Thomas, Reuben Pengelly, Thomas Cullup, Eleni Pissaridou, Jane Hayward, Alexandros Onoufriadis, Christopher O'Callaghan, Michael R Loebinger, Robert Wilson, Eddie Mk Chung, Priti Kenia, Victoria L Doughty, Julene S Carvalho, Jane S Lucas, Hannah M Mitchison, Claire Hogg
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax 74 (2) (2018)