Faculty profile
Ryan Lamont
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Read how they describe their research on their University of Calgary profile.
Latest papers
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Nature Genetics · 2025
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Genetics in medicine : official journal of the American College of Medical Genetics · 2024
Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.
Brain : a journal of neurology · 2024 · first author
8 publications.
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A
Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.
Lamont R, King M, King A, Schellenberg K, Pfeffer G
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.
Eaton A, Hartley T, Kernohan K, Ito Y, Lamont R, Parboosingh J, Barrowman N, Care4Rare consortium, Innes AM, Boycott K
Advancing Concussion Assessment in Pediatrics (A-CAP): a prospective, concurrent cohort, longitudinal study of mild traumatic brain injury in children: study protocol
Yeates KO, Beauchamp M, Craig W, Doan Q, Zemek R, Bjornson BH, Gravel J, Mikrogianakis A, Goodyear B, Abdeen N
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Shamseldin H, Alazami AM, Manning M, Hashem A, Caluseiu O, Tabarki B, Esplin E, Schelley S, Innes AM, Parboosingh JS, Lamont R, Care4Rare Canada Consortium, Majewski J, Bernier FP, Alkuraya FS
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF, UK10K Consortium, University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.
Caluseriu O, Lowry BR, McLeod R, Lamont R, Parboosingh JS, Bernier FP, Innes AM
Frequent collaborators
- Roger Zemek and Jocelyn Gravel: 33 shared papers
- Roger Zemek and Quynh Doan: 30 shared papers
- Christian Beaulieu and Catherine Lebel: 17 shared papers
- Catherine Lebel and Lianne Tomfohr-Madsen: 15 shared papers
- Quynh Doan and Jocelyn Gravel: 14 shared papers
- Angelo Mikrogianakis and Roger Zemek: 11 shared papers
- Jacek Majewski and Taila Hartley: 11 shared papers
- Roger Zemek and Catherine Lebel: 10 shared papers
- Catherine Lebel and Quynh Doan: 9 shared papers
- Roger Zemek and Christian Beaulieu: 8 shared papers
- Christian Beaulieu and Quynh Doan: 8 shared papers
- Catherine Lebel and Mathieu Dehaes: 7 shared papers
- Angelo Mikrogianakis and Jocelyn Gravel: 6 shared papers
- Roger Zemek and Mathieu Dehaes: 6 shared papers
- Malcolm King and Alexandra King: 6 shared papers
- Mark Tarnopolsky and Taila Hartley: 5 shared papers
- Christian Beaulieu and Mathieu Dehaes: 5 shared papers
- Angelo Mikrogianakis and Quynh Doan: 4 shared papers
- Taila Hartley and Francois Bernier: 4 shared papers
- Mark Tarnopolsky and Jacek Majewski: 3 shared papers
- David Dyment and Taila Hartley: 3 shared papers
- Roger Zemek and Carolyn Emery: 3 shared papers
- Roger Zemek and Miriam Beauchamp: 3 shared papers
- Miriam Beauchamp and Quynh Doan: 3 shared papers
- Miriam Beauchamp and Jocelyn Gravel: 3 shared papers
- Taila Hartley and Jillian Parboosingh: 3 shared papers
- Mark Tarnopolsky and David Dyment: 2 shared papers
- Roger Zemek and Bradley Goodyear: 2 shared papers
- Christian Beaulieu and Bradley Goodyear: 2 shared papers
- Catherine Lebel and Bradley Goodyear: 2 shared papers
- Tyler Williamson and Lianne Tomfohr-Madsen: 2 shared papers
- Malcolm King and Gerald Pfeffer: 2 shared papers
- Alexandra King and Gerald Pfeffer: 2 shared papers
- Francois Bernier and Jillian Parboosingh: 2 shared papers
- Mark Tarnopolsky and Ryan Lamont: 1 shared paper
- Angelo Mikrogianakis and Carolyn Emery: 1 shared paper
- Angelo Mikrogianakis and Tyler Williamson: 1 shared paper
- Angelo Mikrogianakis and Ashley Harris: 1 shared paper
- Angelo Mikrogianakis and Lianne Tomfohr-Madsen: 1 shared paper
- Angelo Mikrogianakis and Francois Bernier: 1 shared paper
- Angelo Mikrogianakis and Ryan Lamont: 1 shared paper
- David Dyment and Jacek Majewski: 1 shared paper
- David Dyment and Gerald Pfeffer: 1 shared paper
- David Dyment and Ryan Lamont: 1 shared paper
- David Dyment and Jillian Parboosingh: 1 shared paper
- Roger Zemek and Tyler Williamson: 1 shared paper
- Roger Zemek and Ashley Harris: 1 shared paper
- Roger Zemek and Ryan Lamont: 1 shared paper
- Carolyn Emery and Christian Beaulieu: 1 shared paper
- Carolyn Emery and Ashley Harris: 1 shared paper
- Carolyn Emery and Ryan Lamont: 1 shared paper
- Christian Beaulieu and Ryan Lamont: 1 shared paper
- Catherine Lebel and Ryan Lamont: 1 shared paper
- Jacek Majewski and Ryan Lamont: 1 shared paper
- Tyler Williamson and Ryan Lamont: 1 shared paper
- Miriam Beauchamp and Ryan Lamont: 1 shared paper
- Mathieu Dehaes and Ryan Lamont: 1 shared paper
- Quynh Doan and Ryan Lamont: 1 shared paper
- Malcolm King and Ryan Lamont: 1 shared paper
- Ashley Harris and Ryan Lamont: 1 shared paper
- Alexandra King and Ryan Lamont: 1 shared paper
- Lianne Tomfohr-Madsen and Ryan Lamont: 1 shared paper
- Paul Gordon and Ryan Lamont: 1 shared paper
- Gerald Pfeffer and Ryan Lamont: 1 shared paper
- Taila Hartley and Ryan Lamont: 1 shared paper
- Francois Bernier and Ryan Lamont: 1 shared paper
- Jocelyn Gravel and Ryan Lamont: 1 shared paper
- Ryan Lamont and Jillian Parboosingh: 1 shared paper
- Ryan Lamont and Bradley Goodyear: 1 shared paper
- Department of Medical Genetics
- Pediatrics
- School of Public Health
- Department of Radiology | Image Science
- Radiology
- Sport Injury Prevention Research Centre
- Department of Radiology
- Other
Co-authors at University of Calgary, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
Jillian Parboosingh
Department of Medical Genetics
1 shared papers, latest 2020
Bradley Goodyear
Radiology
1 shared papers, latest 2017
Mark Tarnopolsky
Pediatrics
1 shared papers, latest 2025
Angelo Mikrogianakis
Pediatrics
1 shared papers, latest 2017
David Dyment
Faculty
1 shared papers, latest 2025
Roger Zemek
Faculty
1 shared papers, latest 2017
Carolyn Emery
Sport Injury Prevention Research Centre
1 shared papers, latest 2017
Christian Beaulieu
Biomedical Engineering
1 shared papers, latest 2017
Catherine Lebel
Department of Radiology
1 shared papers, latest 2017
Jacek Majewski
Human Genetics
1 shared papers, latest 2015
Tyler Williamson
Department of Community Health Sciences
1 shared papers, latest 2017
Miriam Beauchamp
Psychology
1 shared papers, latest 2017
Mathieu Dehaes
Radiologie, radio-oncologie et médecine nucléaire
1 shared papers, latest 2017
Quynh Doan
Pediatrics
1 shared papers, latest 2017
Malcolm King
Medicine
1 shared papers, latest 2024
Alexandra King
Faculty
1 shared papers, latest 2024
Ashley Harris
Department of Radiology | Image Science
1 shared papers, latest 2017
Alexandra King
School of Public Health
1 shared papers, latest 2024
Lianne Tomfohr-Madsen
Department of Pediatrics
1 shared papers, latest 2017
Paul Gordon
Laboratory Medicine and Pathology
1 shared papers, latest 2015
Kristin Kernohan
Pediatrics
1 shared papers, latest 2020
Gerald Pfeffer
Cumming School of Medicine
1 shared papers, latest 2024
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Profile data last refreshed on September 27, 2026 from the university directory, publication records and CIHR, NSERC and SSHRC funding.