Joseph A Marsh (Joseph Marsh)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 53

Top Topics

Sickle Cell Disease

Genome Wide Association

Top Venues

Molecular systems biology

European journal of human genetics : EJHG

Communications biology

Science (New York, N.Y.)

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)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Groeschel Samuel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (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)
Clémence David, Carlos A Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian I Rice, Blaise Didry-Barca, Lucie Maisonneuve, Luis Seabra, Robin Kechiche, Cecile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, Carle F Paul, Gulshan Malik, Alison Ross, Jane Adam, Jo Walsh, T Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bader-Meunier, Joseph A Marsh, Jean Laurent Casanova, Yanick J Crow, Bénédicte Manoury, Marie-Louise Frémond, Jonathan Bohlen, Alice Lepelley
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus. The Journal of experimental medicine 221 (8) (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Mihaly Badonyi, Joseph A Marsh
Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases. PloS one 19 (8) (2024)
Clémence David, Carlos A Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian I Rice, Blaise Didry-Barca, Lucie Maisonneuve, Luis Seabra, Robin Kechiche, Cecile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, Carle F Paul, Gulshan Malik, Alison Ross, Jane Adam, Jo Walsh, T Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bader-Meunier, Joseph A Marsh, Jean Laurent Casanova, Yanick J Crow, Bénédicte Manoury, Marie-Louise Frémond, Jonathan Bohlen, Alice Lepelley
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus. The Journal of experimental medicine 221 (8) (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG 32 (9) (2024)
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Molecular systems biology 20 (7) (2024)
Clémence David, Carlos A Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian I Rice, Blaise Didry-Barca, Lucie Maisonneuve, Luis Seabra, Robin Kechiche, Cecile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, Carle F Paul, Gulshan Malik, Alison Ross, Jane Adam, Jo Walsh, T Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bader-Meunier, Joseph A Marsh, Jean Laurent Casanova, Yanick J Crow, Bénédicte Manoury, Marie-Louise Frémond, Jonathan Bohlen, Alice Lepelley
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus. The Journal of experimental medicine 221 (8) (2024)
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Molecular systems biology 20 (7) (2024)
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Molecular systems biology (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)
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Molecular systems biology 20 (7) (2024)
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Molecular systems biology 20 (7) (2024)
Mihaly Badonyi, Joseph A Marsh
Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases. PloS one 19 (8) (2024)
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Molecular systems biology 20 (7) (2024)
Clémence David, Carlos A Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian I Rice, Blaise Didry-Barca, Lucie Maisonneuve, Luis Seabra, Robin Kechiche, Cecile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, Carle F Paul, Gulshan Malik, Alison Ross, Jane Adam, Jo Walsh, T Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bader-Meunier, Joseph A Marsh, Jean Laurent Casanova, Yanick J Crow, Bénédicte Manoury, Marie-Louise Frémond, Jonathan Bohlen, Alice Lepelley
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus. The Journal of experimental medicine 221 (8) (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Groeschel Samuel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari, Juliette Piard, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina R Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Lévy, Alain Verloes, Catherine M Abbott, Lyse Ruaud
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European journal of human genetics : EJHG (2024)
Benjamin J Livesey, Joseph A Marsh
Updated benchmarking of variant effect predictors using deep mutational scanning. Molecular systems biology (2023)
Anthony M Musolf, Annechien E G Haarman, Robert N Luben, Jue-Sheng Ong, Karina Patasova, Rolando Hernandez Trapero, Joseph A Marsh, Ishika Jain, Riya Jain, Paul Zhiping Wang, Deyana D Lewis, Milly S Tedja, Adriana I Iglesias, Hengtong Li, Cameron S Cowan, null null, Ginevra Biino, Alison P Klein, Priya Duggal, David A Mackey, Caroline Hayward, Toomas Haller, Andres Metspalu, Juho Wedenoja, Olavi Pärssinen, Ching-Yu Cheng, Seang-Mei Saw, Dwight Stambolian, Pirro G Hysi, Anthony P Khawaja, Veronique Vitart, Christopher J Hammond, Cornelia M Van Duijn, Virginie J M Verhoeven, Caroline C W Klaver, Richard K Wilson
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. Communications biology 6 (1) (2023)
Anthony M Musolf, Annechien E G Haarman, Robert N Luben, Jue-Sheng Ong, Karina Patasova, Rolando Hernandez Trapero, Joseph A Marsh, Ishika Jain, Riya Jain, Paul Zhiping Wang, Deyana D Lewis, Milly S Tedja, Adriana I Iglesias, Hengtong Li, Cameron S Cowan, null null, Ginevra Biino, Alison P Klein, Priya Duggal, David A Mackey, Caroline Hayward, Toomas Haller, Andres Metspalu, Juho Wedenoja, Olavi Pärssinen, Ching-Yu Cheng, Seang-Mei Saw, Dwight Stambolian, Pirro G Hysi, Anthony P Khawaja, Veronique Vitart, Christopher J Hammond, Cornelia M Van Duijn, Virginie J M Verhoeven, Caroline C W Klaver, Richard K Wilson
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. Communications biology 6 (1) (2023)
Lukas Gerasimavicius, Benjamin J Livesey, Joseph A Marsh
Correspondence between functional scores from deep mutational scans and predicted effects on protein stability. Protein science : a publication of the Protein Society (2023)
Anthony M Musolf, Annechien E G Haarman, Robert N Luben, Jue-Sheng Ong, Karina Patasova, Rolando Hernandez Trapero, Joseph A Marsh, Ishika Jain, Riya Jain, Paul Zhiping Wang, Deyana D Lewis, Milly S Tedja, Adriana I Iglesias, Hengtong Li, Cameron S Cowan, null null, Ginevra Biino, Alison P Klein, Priya Duggal, David A Mackey, Caroline Hayward, Toomas Haller, Andres Metspalu, Juho Wedenoja, Olavi Pärssinen, Ching-Yu Cheng, Seang-Mei Saw, Dwight Stambolian, Pirro G Hysi, Anthony P Khawaja, Veronique Vitart, Christopher J Hammond, Cornelia M Van Duijn, Virginie J M Verhoeven, Caroline C W Klaver, Richard K Wilson
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. Communications biology 6 (1) (2023)
Mihaly Badonyi, Joseph A Marsh
Buffering of genetic dominance by allele-specific protein complex assembly. Science advances 9 (22) (2023)
Anthony M Musolf, Annechien E G Haarman, Robert N Luben, Jue-Sheng Ong, Karina Patasova, Rolando Hernandez Trapero, Joseph A Marsh, Ishika Jain, Riya Jain, Paul Zhiping Wang, Deyana D Lewis, Milly S Tedja, Adriana I Iglesias, Hengtong Li, Cameron S Cowan, null null, Ginevra Biino, Alison P Klein, Priya Duggal, David A Mackey, Caroline Hayward, Toomas Haller, Andres Metspalu, Juho Wedenoja, Olavi Pärssinen, Ching-Yu Cheng, Seang-Mei Saw, Dwight Stambolian, Pirro G Hysi, Anthony P Khawaja, Veronique Vitart, Christopher J Hammond, Cornelia M Van Duijn, Virginie J M Verhoeven, Caroline C W Klaver, Richard K Wilson
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. Communications biology 6 (1) (2023)
Benjamin J Livesey, Joseph A Marsh
Advancing variant effect prediction using protein language models. Nature genetics (2023)
Anthony M Musolf, Annechien E G Haarman, Robert N Luben, Jue-Sheng Ong, Karina Patasova, Rolando Hernandez Trapero, Joseph A Marsh, Ishika Jain, Riya Jain, Paul Zhiping Wang, Deyana D Lewis, Milly S Tedja, Adriana I Iglesias, Hengtong Li, Cameron S Cowan, null null, Ginevra Biino, Alison P Klein, Priya Duggal, David A Mackey, Caroline Hayward, Toomas Haller, Andres Metspalu, Juho Wedenoja, Olavi Pärssinen, Ching-Yu Cheng, Seang-Mei Saw, Dwight Stambolian, Pirro G Hysi, Anthony P Khawaja, Veronique Vitart, Christopher J Hammond, Cornelia M Van Duijn, Virginie J M Verhoeven, Caroline C W Klaver, Richard K Wilson
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. Communications biology 6 (1) (2023)
Mihaly Badonyi, Joseph A Marsh
Hallmarks and evolutionary drivers of cotranslational protein complex assembly. The FEBS journal (2023)
Anthony M Musolf, Annechien E G Haarman, Robert N Luben, Jue-Sheng Ong, Karina Patasova, Rolando Hernandez Trapero, Joseph A Marsh, Ishika Jain, Riya Jain, Paul Zhiping Wang, Deyana D Lewis, Milly S Tedja, Adriana I Iglesias, Hengtong Li, Cameron S Cowan, null null, Ginevra Biino, Alison P Klein, Priya Duggal, David A Mackey, Caroline Hayward, Toomas Haller, Andres Metspalu, Juho Wedenoja, Olavi Pärssinen, Ching-Yu Cheng, Seang-Mei Saw, Dwight Stambolian, Pirro G Hysi, Anthony P Khawaja, Veronique Vitart, Christopher J Hammond, Cornelia M Van Duijn, Virginie J M Verhoeven, Caroline C W Klaver, Richard K Wilson
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. Communications biology 6 (1) (2023)
Neil Alistair Robertson, Eric Latorre-Crespo, Maria Terradas Terradas, Jorge Lemos-Portela, Alison C Purcell, Benjamin J Livesey, Robert F Hillary, Lee Murphy, Angie Fawkes, Louise MacGillivray, Mhairi Copland, Riccardo E Marioni, Joseph A Marsh, Sarah E Harris, Simon R Cox, Ian J Deary, Linus J Schumacher, Kristina Kirschner, Tamir Chandra
Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects. Nature medicine 28 (7) (2022)
Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. PloS one 17 (11) (2022)
Benjamin J Livesey, Joseph A Marsh
Interpreting protein variant effects with computational predictors and deep mutational scanning. Disease models & mechanisms 15 (6) (2022)
Thomas J Attard, Julie P I Welburn, Joseph A Marsh
Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations. PLoS computational biology 18 (10) (2022)
Benjamin J Livesey, Joseph A Marsh
The properties of human disease mutations at protein interfaces. PLoS computational biology 18 (2) (2022)
Mihaly Badonyi, Joseph A Marsh
Large protein complex interfaces have evolved to promote cotranslational assembly. eLife 11 (2022)
Lukas Gerasimavicius, Benjamin J Livesey, Joseph A Marsh
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure. Nature communications 13 (1) (2022)
Benjamin J Livesey, Joseph A Marsh
Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations. Molecular systems biology 16 (7) (2021)
L Therese Bergendahl, Lukas Gerasimavicius, Jamilla Miles, Lewis Macdonald, Jonathan N Wells, Julie P I Welburn, Joseph A Marsh
The role of protein complexes in human genetic disease. Protein science : a publication of the Protein Society 28 (8) (2019)
Eviatar Natan, Tamaki Endoh, Liora Haim-Vilmovsky, Tilman Flock, Guilhem Chalancon, Jonathan T S Hopper, Bálint Kintses, Peter Horvath, Lejla Daruka, Gergely Fekete, Csaba Pál, Balázs Papp, Erika Oszi, Zoltán Magyar, Joseph A Marsh, Adrian H Elcock, M Madan Babu, Carol V Robinson, Naoki Sugimoto, Sarah A Teichmann
Cotranslational protein assembly imposes evolutionary constraints on homomeric proteins. Nature structural & molecular biology 25 (3) (2018)
Patricia Heyn, Clare V Logan, Adeline Fluteau, Rachel C Challis, Tatsiana Auchynnikava, Carol-Anne Martin, Joseph A Marsh, Francesca Taglini, Fiona Kilanowski, David A Parry, Valerie Cormier-Daire, Chin-To Fong, Kate Gibson, Vivian Hwa, Lourdes Ibáñez, Stephen P Robertson, Giorgia Sebastiani, Juri Rappsilber, Robin C Allshire, Martin A M Reijns, Andrew Dauber, Duncan Sproul, Andrew P Jackson
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. Nature genetics 51 (1) (2018)
Rodanthi Lyraki, Mandy Lokaj, Dinesh C Soares, Abigail Little, Matthieu M Vermeren, Joseph A Marsh, Alfred Wittinghofer, Toby W Hurd
Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling. Journal of cell science 131 (4) (2018)
Chloe M Stanton, Shyamanga Borooah, Camilla Drake, Joseph A Marsh, Susan Campbell, Alan Lennon, Dinesh C Soares, Neeru A Vallabh, Jayashree Sahni, Artur V Cideciyan, Baljean Dhillon, Veronique Vitart, Samuel G Jacobson, Alan F Wright, Caroline Hayward
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration. Scientific reports 7 (1) (2017)
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I Jones, Serkan Erdin, Kathleen A Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B Currall, Donncha S Dunican, Ryan L Collins, Jason R Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K Rainger, Shelagh Joss, Jill Clayton Smith, Margaret F Lippincott, Sylvia S Singh, Nirav Patel, Jenny W Jing, Jennifer R Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Tryggestad, Steven Chernausek, Lisa A Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Jose E García-Ortiz, Tatiana Pineda Buitrago, Orlando Perez Silva, Jodi D Hoffman, Wolfgang Mühlbauer, Klaus W Ruprecht, Bart L Loeys, Masato Shino, Angela M Kaindl, Chie-Hee Cho, Cynthia C Morton, Richard R Meehan, Veronica van Heyningen, Eric C Liao, Ravikumar Balasubramanian, Janet E Hall, Stephanie B Seminara, Daniel Macarthur, Steven A Moore, Koh-Ichiro Yoshiura, James F Gusella, Joseph A Marsh, John M Graham, Angela E Lin, Nicholas Katsanis, Peter L Jones, William F Crowley, Erica E Davis, David R FitzPatrick, Michael E Talkowski
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature genetics 49 (2) (2017)
L Therese Bergendahl, Joseph A Marsh
Functional determinants of protein assembly into homomeric complexes. Scientific reports 7 (1) (2017)
Alexander Esin, L Therese Bergendahl, Vincent Savolainen, Joseph A Marsh, Tobias Warnecke
The genetic basis and evolution of red blood cell sickling in deer. Nature ecology & evolution 2 (2) (2017)
György Abrusán, Joseph A Marsh
Alpha Helices Are More Robust to Mutations than Beta Strands. PLoS computational biology 12 (12) (2016)