Samantha J Bryen (Samantha Bryen)

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 17

Top Venues

Nature genetics

Journal of the peripheral nervous system : JPNS

medRxiv : the preprint server for health sciences

Human mutation

Children's Hospital at Westmead

National Measurement Institute/Western Sydney University (BSC)

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

Affiliation History

Children's Hospital at Westmead

Australia

PhD Student :: Kids Neuroscience Centre, Kids Research

Education History

National Measurement Institute/Western Sydney University

Australia

BSC

Western Sydney University

Australia

BSC

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)
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)
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)
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)
Monica Hsiung Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sue White, Ben Weisburd, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal Morel, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathy, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Chrisodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten Bonnemann, Alan H Beggs, Samantha M Baxter, Pankaj B Agrawal, Michael Talkowski, Chrissy Austin-Tse, Heidi L Rehm, Anne O'Donnell-Luria
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv : the preprint server for health sciences (2023)
Monica Hsiung Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sue White, Ben Weisburd, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal Morel, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathy, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Chrisodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten Bonnemann, Alan H Beggs, Samantha M Baxter, Pankaj B Agrawal, Michael Talkowski, Chrissy Austin-Tse, Heidi L Rehm, Anne O'Donnell-Luria
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv : the preprint server for health sciences (2023)
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper
SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature genetics 55 (2) (2023)
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper
SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature genetics 55 (2) (2023)
Monica Hsiung Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sue White, Ben Weisburd, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal Morel, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathy, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Chrisodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten Bonnemann, Alan H Beggs, Samantha M Baxter, Pankaj B Agrawal, Michael Talkowski, Chrissy Austin-Tse, Heidi L Rehm, Anne O'Donnell-Luria
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv : the preprint server for health sciences (2023)
Monica Hsiung Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sue White, Ben Weisburd, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal Morel, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathy, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Chrisodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten Bonnemann, Alan H Beggs, Samantha M Baxter, Pankaj B Agrawal, Michael Talkowski, Chrissy Austin-Tse, Heidi L Rehm, Anne O'Donnell-Luria
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv : the preprint server for health sciences (2023)
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper
SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature genetics (2023)
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper
SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature genetics 55 (2) (2023)
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper
SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature genetics 55 (2) (2023)
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper
SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature genetics 55 (2) (2023)
Leigh B Waddell, Samantha J Bryen, Beryl B Cummings, Adam M Bournazos, Frances J Evesson, Himanshu Joshi, Jamie L Marshall, Taru Tukiainen, Elise Valkanas, Ben Weisburd, Simon Sadedin, Mark R Davis, Fathimath Faiz, Rebecca Gooding, Sarah A Sandaradura, Gina L O'Grady, Michel C Tchan, David R Mowat, Emily C Oates, Michelle A Farrar, Hugo Sampaio, Alan Sl Ma, Katherine Neas, Min-Xia Wang, Amanda Charlton, Charles Chan, Diane N Kenwright, Nicole Graf, Susan Arbuckle, Nigel F Clarke, Daniel G MacArthur, Kristi J Jones, Monkol Lek, Sandra T Cooper
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase. Neurology. Genetics 7 (1) (2021)
Samantha J Bryen, Emily C Oates, Frances J Evesson, Jessica K Lu, Leigh B Waddell, Himanshu Joshi, Monique M Ryan, Beryl B Cummings, Catriona A McLean, Daniel G MacArthur, Andrew J Kornberg, Sandra T Cooper
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy. European journal of human genetics : EJHG 29 (1) (2020)
Samantha J Bryen, Lisa J Ewans, Jason Pinner, Suzanna C MacLennan, Sandra Donkervoort, Diana Castro, Ana Töpf, Gina O'Grady, Beryl Cummings, Katherine R Chao, Ben Weisburd, Laurent Francioli, Fathimath Faiz, Adam M Bournazos, Ying Hu, Carla Grosmann, Denise M Malicki, Helen Doyle, Nanna Witting, John Vissing, Kristl G Claeys, Kathryn Urankar, Ana Beleza-Meireles, Julia Baptista, Sian Ellard, Marco Savarese, Mridul Johari, Anna Vihola, Bjarne Udd, Anirban Majumdar, Volker Straub, Carsten G Bönnemann, Daniel G MacArthur, Mark R Davis, Sandra T Cooper
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Human mutation 41 (2) (2019)

Samantha J Bryen.css-eqlu8i{font-size:small;padding-left:4px;} (Samantha Bryen)

Publication Activity (10 Years)

Top Topics

Top Venues

Samantha J Bryen (Samantha Bryen)