Alicia B Byrne

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 14

Top Topics

Muscular Dystrophy

Transcatheter Aortic Valve Implantation

Intellectual Disability

Top Venues

Nature medicine

medRxiv : the preprint server for health sciences

Journal of medical genetics

NPJ genomic medicine

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

Publications

Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G Biesecker, Alicia B Byrne, Emily A W Nadeau, Marc S Greenblatt, Steven M Harrison, Sean V Tavtigian, Predrag Radivojac, Steven E Brenner, Anne H O'Donnell-Luria
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. medRxiv : the preprint server for health sciences (2024)
Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G Biesecker, Alicia B Byrne, Emily A W Nadeau, Marc S Greenblatt, Steven M Harrison, Sean V Tavtigian, Predrag Radivojac, Steven E Brenner, Anne H O'Donnell-Luria
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. medRxiv : the preprint server for health sciences (2024)
Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G Biesecker, Alicia B Byrne, Emily A W Nadeau, Marc S Greenblatt, Steven M Harrison, Sean V Tavtigian, Predrag Radivojac, Steven E Brenner, Anne H O'Donnell-Luria
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. medRxiv : the preprint server for health sciences (2024)
Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G Biesecker, Alicia B Byrne, Emily A W Nadeau, Marc S Greenblatt, Steven M Harrison, Sean V Tavtigian, Predrag Radivojac, Steven E Brenner, Anne H O'Donnell-Luria, null null
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. medRxiv : the preprint server for health sciences (2024)
Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Anne H O'Donnell-Luria, null null, Milena Babic, Mahalia S B Frank, Jinghua Feng, Paul Wang, David Michael Lawrence, Leila Eshraghi, Luis Alberto Arriola-Martinez, John Toubia, Hung Nguyen, null null, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, Teck Yee Khong, Lynette Moore, Jan E Liebelt, Andreas W Schreiber, Sarah L King-Smith, Tristan S E Hardy, Matilda R Jackson, Christopher P Barnett, Hamish S Scott
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature medicine 29 (1) (2023)
Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Anne H O'Donnell-Luria, null null, Milena Babic, Mahalia S B Frank, Jinghua Feng, Paul Wang, David Michael Lawrence, Leila Eshraghi, Luis Alberto Arriola-Martinez, John Toubia, Hung Nguyen, null null, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, Teck Yee Khong, Lynette Moore, Jan E Liebelt, Andreas W Schreiber, Sarah L King-Smith, Tristan S E Hardy, Matilda R Jackson, Christopher P Barnett, Hamish S Scott
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature medicine 29 (1) (2023)
Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Anne H O'Donnell-Luria, null null, Milena Babic, Mahalia S B Frank, Jinghua Feng, Paul Wang, David Michael Lawrence, Leila Eshraghi, Luis Alberto Arriola-Martinez, John Toubia, Hung Nguyen, null null, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, Teck Yee Khong, Lynette Moore, Jan E Liebelt, Andreas W Schreiber, Sarah L King-Smith, Tristan S E Hardy, Matilda R Jackson, Christopher P Barnett, Hamish S Scott
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature medicine (2023)
Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Anne H O'Donnell-Luria, null null, Milena Babic, Mahalia S B Frank, Jinghua Feng, Paul Wang, David Michael Lawrence, Leila Eshraghi, Luis Alberto Arriola-Martinez, John Toubia, Hung Nguyen, null null, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, Teck Yee Khong, Lynette Moore, Jan E Liebelt, Andreas W Schreiber, Sarah L King-Smith, Tristan S E Hardy, Matilda R Jackson, Christopher P Barnett, Hamish S Scott
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature medicine (2023)
Alicia B Byrne, Peer Arts, Thuong T Ha, Karin S Kassahn, Lynn S Pais, Anne H O'Donnell-Luria, null null, Milena Babic, Mahalia S B Frank, Jinghua Feng, Paul Wang, David Michael Lawrence, Leila Eshraghi, Luis Alberto Arriola-Martinez, John Toubia, Hung Nguyen, null null, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, Teck Yee Khong, Lynette Moore, Jan E Liebelt, Andreas W Schreiber, Sarah L King-Smith, Tristan S E Hardy, Matilda R Jackson, Christopher P Barnett, Hamish S Scott
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature medicine 29 (1) (2023)
Alicia B Byrne, Pascal Brouillard, Drew L Sutton, Jan Kazenwadel, Saba Montazaribarforoushi, Genevieve A Secker, Anna Oszmiana, Milena Babic, Kelly L Betterman, Peter J Brautigan, Melissa White, Sandra G Piltz, Paul Q Thomas, Christopher N Hahn, Matthias Rath, Ute Felbor, G Christoph Korenke, Christopher L Smith, Kathleen H Wood, Sarah E Sheppard, Denise M Adams, Ariana Kariminejad, Raphaël Helaers, Laurence M Boon, Nicole Revencu, Lynette Moore, Christopher P Barnett, Eric Haan, Peer Arts, Miikka Vikkula, Hamish S Scott, Natasha L Harvey
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Science translational medicine 14 (634) (2022)
Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian Hon-Yin Chung, Marcus Cy Chan, Jasmine Lf Fung, Edwin Cook, Stephen Guter, Felix Boschann, Andre Heinen, Jens Schallner, Cyril Mignot, Boris Keren, Sandra Whalen, Catherine Sarret, Dana Mittag, Laurie Demmer, Rachel Stapleton, Ken Saida, Naomichi Matsumoto, Noriko Miyake, Ruth Sheffer, Hagar Mor-Shaked, Christopher P Barnett, Alicia B Byrne, Hamish S Scott, Alison Kraus, Gerarda Cappuccio, Nicola Brunetti-Pierri, Raffaele Iorio, Fabiola Di Dato, Lynn S Pais, Alison Yeung, Tiong Yang Tan, Jenny C Taylor, John Christodoulou, Susan M White
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Journal of medical genetics (2021)
Peer Arts, Jessica Garland, Alicia B Byrne, Tristan S E Hardy, Milena Babic, Jinghua Feng, Paul Wang, Thuong T Ha, Sarah L King-Smith, Andreas W Schreiber, April Crawford, Nick Manton, Lynette Moore, Christopher P Barnett, Hamish S Scott
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome. American journal of medical genetics. Part A 182 (5) (2020)
Alicia B Byrne, Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng, Andreas W Schreiber, Milena Babic, Sarah L King-Smith, Christopher P Barnett, Lynette Moore, Kazuyuki Sugahara, Hatice Mutlu-Albayrak, Gen Nishimura, Jan E Liebelt, Shuhei Yamada, Ravi Savarirayan, Hamish S Scott
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. Journal of medical genetics 57 (7) (2020)
Alicia B Byrne, Peer Arts, Steven W Polyak, Jinghua Feng, Andreas W Schreiber, Karin S Kassahn, Christopher N Hahn, Dylan A Mordaunt, Janice M Fletcher, Jillian Lipsett, Drago Bratkovic, Grant W Booker, Nicholas J Smith, Hamish S Scott
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. NPJ genomic medicine 4 (2019)