Mathew J Wallis (Mathew Wallis)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 24

Top Topics

Duchenne Muscular Dystrophy

Autism Spectrum Disorder

Top Venues

European journal of human genetics : EJHG

Clinical journal of the American Society of Nephrology : CJASN

Journal of the peripheral nervous system : JPNS

JCO precision oncology

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

Publications

Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS (2024)
Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, Giovanni Innella, Wendy K Kohlmann, Conxi Lazaro Garcia, Joan Brunet, Lidia Feliubadaló, Silvia Iglesias, Mireia Menéndez, Alex Teulé, Mandy L Ballinger, David M Thomas, Ainsley Campbell, Michael J Field, Marion Harris, Judy Kirk, Nicholas Pachter, Nicola K Poplawski, Rachel Susman, Katherine Tucker, Mathew J Wallis, Rachel Williams, Elisa Cops, David E Goldgar, null null, Paul A James, Amanda B Spurdle
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum. JCO precision oncology 8 (2024)
Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, Giovanni Innella, Wendy K Kohlmann, Conxi Lazaro Garcia, Joan Brunet, Lidia Feliubadaló, Silvia Iglesias, Mireia Menéndez, Alex Teulé, Mandy L Ballinger, David M Thomas, Ainsley Campbell, Michael J Field, Marion Harris, Judy Kirk, Nicholas Pachter, Nicola K Poplawski, Rachel Susman, Katherine Tucker, Mathew J Wallis, Rachel Williams, Elisa Cops, David E Goldgar, null null, Paul A James, Amanda B Spurdle
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum. JCO precision oncology 8 (2024)
Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O'Shea, Erik Biros, Trudie Harris, Stephen I Alexander, Simon D Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steve Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda, Vanessa Huntley, Sadia Jahan, Kushani Jayasinghe, Matthew D Jose, Anna Leaver, Mandi MacShane, Evanthia Olympia Madelli, Kathleen M Nicholls, Rhonda Pawlowski, Gopala K Rangan, Paul Snelling, Jacqueline Soraru, Madhivanan Sundaram, Michel C Tchan, Giulia M Valente, Mathew J Wallis, Laura Wedd, Matthew Welland, John B Whitlam, Ella J Wilkins, Hugh McCarthy, Cas Simons, Catherine Quinlan, Chirag Patel, Zornitza Stark, Andrew John Mallett
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clinical journal of the American Society of Nephrology : CJASN 19 (7) (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG 32 (8) (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG 32 (8) (2024)
Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O'Shea, Erik Biros, Trudie Harris, Stephen I Alexander, Simon D Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steve Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda, Vanessa Huntley, Sadia Jahan, Kushani Jayasinghe, Matthew D Jose, Anna Leaver, Mandi MacShane, Evanthia Olympia Madelli, Kathleen M Nicholls, Rhonda Pawlowski, Gopala K Rangan, Paul Snelling, Jacqueline Soraru, Madhivanan Sundaram, Michel C Tchan, Giulia M Valente, Mathew J Wallis, Laura Wedd, Matthew Welland, John B Whitlam, Ella J Wilkins, Hugh McCarthy, Cas Simons, Catherine Quinlan, Chirag Patel, Zornitza Stark, Andrew John Mallett
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: a National Australian Study. Clinical journal of the American Society of Nephrology : CJASN (2024)
Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O'Shea, Erik Biros, Trudie Harris, Stephen I Alexander, Simon D Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steve Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda, Vanessa Huntley, Sadia Jahan, Kushani Jayasinghe, Matthew D Jose, Anna Leaver, Mandi MacShane, Evanthia Olympia Madelli, Kathleen M Nicholls, Rhonda Pawlowski, Gopala K Rangan, Paul Snelling, Jacqueline Soraru, Madhivanan Sundaram, Michel C Tchan, Giulia M Valente, Mathew J Wallis, Laura Wedd, Matthew Welland, John B Whitlam, Ella J Wilkins, Hugh McCarthy, Cas Simons, Catherine Quinlan, Chirag Patel, Zornitza Stark, Andrew John Mallett
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clinical journal of the American Society of Nephrology : CJASN 19 (7) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG 32 (8) (2024)
Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, Giovanni Innella, Wendy K Kohlmann, Conxi Lazaro Garcia, Joan Brunet, Lidia Feliubadaló, Silvia Iglesias, Mireia Menéndez, Alex Teulé, Mandy L Ballinger, David M Thomas, Ainsley Campbell, Michael J Field, Marion Harris, Judy Kirk, Nicholas Pachter, Nicola K Poplawski, Rachel Susman, Katherine Tucker, Mathew J Wallis, Rachel Williams, Elisa Cops, David E Goldgar, null null, Paul A James, Amanda B Spurdle
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum. JCO precision oncology 8 (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG (2024)
Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O'Shea, Erik Biros, Trudie Harris, Stephen I Alexander, Simon D Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steve Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda, Vanessa Huntley, Sadia Jahan, Kushani Jayasinghe, Matthew D Jose, Anna Leaver, Mandi MacShane, Evanthia Olympia Madelli, Kathleen M Nicholls, Rhonda Pawlowski, Gopala K Rangan, Paul Snelling, Jacqueline Soraru, Madhivanan Sundaram, Michel C Tchan, Giulia M Valente, Mathew J Wallis, Laura Wedd, Matthew Welland, John B Whitlam, Ella J Wilkins, Hugh McCarthy, Cas Simons, Catherine Quinlan, Chirag Patel, Zornitza Stark, Andrew John Mallett
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clinical journal of the American Society of Nephrology : CJASN 19 (7) (2024)
Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O'Shea, Erik Biros, Trudie Harris, Stephen I Alexander, Simon D Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steve Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda, Vanessa Huntley, Sadia Jahan, Kushani Jayasinghe, Matthew D Jose, Anna Leaver, Mandi MacShane, Evanthia Olympia Madelli, Kathleen M Nicholls, Rhonda Pawlowski, Gopala K Rangan, Paul Snelling, Jacqueline Soraru, Madhivanan Sundaram, Michel C Tchan, Giulia M Valente, Mathew J Wallis, Laura Wedd, Matthew Welland, John B Whitlam, Ella J Wilkins, Hugh McCarthy, Cas Simons, Catherine Quinlan, Chirag Patel, Zornitza Stark, Andrew John Mallett
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clinical journal of the American Society of Nephrology : CJASN 19 (7) (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Annick Toutain, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG 32 (8) (2024)
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Maria Irene Valenzuela Palafoll, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I Dagli, M J M Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdenek Sedlacek, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, André Reis, Tuğçe B Balcı, Marleen Simon, Hester Y Kroes, Antje Wiesener, Georgia Vasileiou, Nikolaos M Marinakis, Danai Veltra, Christalena Sofocleous, Konstantina Kosma, Joanne Traeger Synodinos, Konstantinos A Voudris, Marie-Laure Vuillaume, Paul Gueguen, Nicolas Derive, Estelle Colin, Clarisse Battault, Billie Au, Martin Delatycki, Mathew J Wallis, Lyndon Gallacher, Fatma Majdoub, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, R Frank Kooy, Marije Meuwissen, Benjamin T Cocanougher, Kathryn Taylor, Carolyn E Pizoli, Marie T McDonald, Philip James, Elizabeth R Roeder, Rebecca Littlejohn, Nicholas A Borja, Willa Thorson, Kristine King, Radka Stoeva, Manon Suerink, Esther A R Nibbeling, Stephanie Baskin, Gwenaël L E Guyader, Julie Kaplan, Candace Muss, Deanna Alexis Carere, Elizabeth Joyce Bhoj, Laura M Bryant
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics : EJHG (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Chathri Ratnayake, Rocio Rius, Mathew J Wallis, Rajesh Raj, John Christodoulou
Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease. Nephrology (Carlton, Vic.) 27 (7) (2022)
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M Tankard, Claire Ewenczyk, Kayli C Davies, Patricia Lino-Coulon, Claire Colace, Haloom Rafehi, Nicolas Auger, Brendan Robert E Ansell, Ivo van der Stelt, Katherine B Howell, Marie Coutelier, David J Amor, Emeline Mundwiller, Lena Guillot-Noël, Elsdon Storey, R J McKinlay Gardner, Mathew J Wallis, Alfredo Brusco, Olga Corti, Agnes Rotig, Richard J Leventer, Alexis Brice, Martin B Delatycki, Giovanni Stevanin, Paul J Lockhart, Alexandra Dürr
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. Annals of neurology 92 (1) (2022)
Mathew J Wallis, Rachel Pope-Couston, Julia Mansour, David J Amor, Paisu Tang, Sharyn Stock-Myer
Lymphedema distichiasis syndrome may be caused by FOXC2 promoter-enhancer dissociation and disruption of a topological associated domain. American journal of medical genetics. Part A 185 (1) (2020)