Frances J Evesson

ORCID

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 10

Top Venues

European journal of human genetics : EJHG

Annals of clinical and translational neurology

Human molecular genetics

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

Publications

Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, Anita Cairns, Katherine R Chao, Alastair Corbett, Mark R Davis, Vijay S Ganesh, Roula Ghaoui, Kristi J Jones, Andrew J Kornberg, Monkol Lek, Christina Liang, Daniel G MacArthur, Emily C Oates, Anne O'Donnell-Luria, Gina L O'Grady, Ikeoluwa A Osei-Owusu, Haloom Rafehi, Stephen W Reddel, Richard H Roxburgh, Monique M Ryan, Sarah A Sandaradura, Liam W Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J Evesson, Leigh B Waddell, Sandra T Cooper
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Annals of clinical and translational neurology 11 (5) (2024)
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Michaela Yuen, Sandra T Cooper, Frances J Evesson
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint. European journal of human genetics : EJHG 32 (8) (2024)
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Michaela Yuen, Sandra T Cooper, Frances J Evesson
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint. European journal of human genetics : EJHG 32 (8) (2024)
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Michaela Yuen, Sandra T Cooper, Frances J Evesson
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint. European journal of human genetics : EJHG (2024)
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Michaela Yuen, Sandra T Cooper, Frances J Evesson
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint. European journal of human genetics : EJHG 32 (8) (2024)
Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, Anita Cairns, Katherine R Chao, Alastair Corbett, Mark R Davis, Vijay S Ganesh, Roula Ghaoui, Kristi J Jones, Andrew J Kornberg, Monkol Lek, Christina Liang, Daniel G MacArthur, Emily C Oates, Anne O'Donnell-Luria, Gina L O'Grady, Ikeoluwa A Osei-Owusu, Haloom Rafehi, Stephen W Reddel, Richard H Roxburgh, Monique M Ryan, Sarah A Sandaradura, Liam W Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J Evesson, Leigh B Waddell, Sandra T Cooper
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Annals of clinical and translational neurology 11 (5) (2024)
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Michaela Yuen, Sandra T Cooper, Frances J Evesson
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint. European journal of human genetics : EJHG 32 (8) (2024)
Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, Anita Cairns, Katherine R Chao, Alastair Corbett, Mark R Davis, Vijay S Ganesh, Roula Ghaoui, Kristi J Jones, Andrew J Kornberg, Monkol Lek, Christina Liang, Daniel G MacArthur, Emily C Oates, Anne O'Donnell-Luria, Gina L O'Grady, Ikeoluwa A Osei-Owusu, Haloom Rafehi, Stephen W Reddel, Richard H Roxburgh, Monique M Ryan, Sarah A Sandaradura, Liam W Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J Evesson, Leigh B Waddell, Sandra T Cooper
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Annals of clinical and translational neurology (2024)
Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, Anita Cairns, Katherine R Chao, Alastair Corbett, Mark R Davis, Vijay S Ganesh, Roula Ghaoui, Kristi J Jones, Andrew J Kornberg, Monkol Lek, Christina Liang, Daniel G MacArthur, Emily C Oates, Anne O'Donnell-Luria, Gina L O'Grady, Ikeoluwa A Osei-Owusu, Haloom Rafehi, Stephen W Reddel, Richard H Roxburgh, Monique M Ryan, Sarah A Sandaradura, Liam W Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J Evesson, Leigh B Waddell, Sandra T Cooper
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Annals of clinical and translational neurology 11 (5) (2024)
Frances J Evesson, Gregory Dziaduch, Samantha J Bryen, Francesca Moore, Sara Pittman, Beena Devanapalli, Leigh B Waddell, Monique M Ryan, Manoj Menezes, Conrad C Weihl, Adviye Ayper Tolun, Craig Zaidman, Helen Young, Lesley C Adès, Sandra T Cooper
PYROXD1 variants cause an overlapping myopathy and connective tissue disorder. Human molecular genetics (2023)

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Publication Activity (10 Years)

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Frances J Evesson