Matthew Osmond

ORCID

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 4

Top Venues

Human mutation

Annals of neurology

Science translational medicine

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

Publications

Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M W Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C J Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan C Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon H Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frederic Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter M Krawitz, Linus Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, Francois V Bolduc, Elke Krüger, Stephane Bezieau
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Science translational medicine 15 (698) (2023)
Matthew Osmond, Taila Hartley, Brittney Johnstone, Sasha Andjic, Marta Girdea, Meredith Gillespie, Orion Buske, Sergiu Dumitriu, Veronika Koltunova, Arun Ramani, Kym M Boycott, Michael Brudno
PhenomeCentral: 7 years of rare disease matchmaking. Human mutation 43 (6) (2022)
Hannah G Driver, Taila Hartley, E Magda Price, Andrei L Turinsky, Orion J Buske, Matthew Osmond, Arun K Ramani, Emily Kirby, Kristin D Kernohan, Madeline Couse, Hillary Elrick, Kevin Lu, Pouria Mashouri, Aarthi Mohan, Delvin So, Conor Klamann, Hannah G B H Le, Andrea Herscovich, Christian R Marshall, Andrew Statia, Care Rare Canada Consortium, Bartha Maria Knoppers, Michael Brudno, Kym M Boycott
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery. Human mutation 43 (6) (2022)
Daniel G Calame, Isabella Herman, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Jawid M Fatih, Tadahiro Mitani, Haowei Du, Christopher M Grochowski, Sergio B Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko A Ito, Clarissa Rocca, Jill V Hunter, Vernon Reid Sutton, Lisa T Emrick, Kym M Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal W Saadi, Maha S Zaki, Arjan Bouman, Tahsin Stefan Barakat, David L Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh-Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Abbas Al-Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C Robson, Zeynep Coban-Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, Michael C Kruer, Kristin D Kernohan, Jonas A Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H Elsea, Davut Pehlivan, Dana Marafi, James R. Lupski
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Annals of neurology 92 (2) (2022)

Matthew Osmond.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Matthew Osmond