Faculty profile
Melissa MacPherson
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Read how they describe their research on their University of Alberta profile.
Latest papers
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Nature communications · 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder
European Journal of Human Genetics · 2026
Physiology and Clinical Manifestations of Pathologic Cranial Suture Widening.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2024
Latest funding
- $6,000
Improving Care for Individuals with Disorders of Lateralized Overgrowth
CIHR · 2025 · Supervisor
- $929,476
Understanding the Mechanistic Basis for Disease-Causing Variants in CELF2-Related Neurodevelopmental Disorders
CIHR · 2024 · Co-investigator
- $100,000
Understanding the Mechanistic Basis for Disease-Causing Variants in CELF2-Related Neurodevelopmental Disorders
CIHR · 2023 · Co-investigator
4 publications.
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Uguen K, Bergot T, Scott-Boyer MP, Chapalain S, Desdouets C, Commet S, Zhu C, Xu Y, Wang Y, Roscioli T, Tran-Mau-Them F, Faivre L, Maraval J, Delanne J, Denommé-Pichon AS, Vitobello A, Jost C, Planes M, Hiatt S, Wheeler P, Gonzaga-Jauregui C, Wang H, Xin B, Sency V, Kruer MC, Bakhtiari S, Sulem P, Curry C, Prescott T, Strobl-Wildemann G, Brunet T, Doco Fenzy M, Courtin T, Poirsier C, Bjørg Hammer T, Fenger CD, MacPherson M, Izumi K, Leonard J, Li D, Zackai EH, Glass IA, Ward S, Campeau PM, Borroto MCH, Le Moigno L, Van Esch H, De Waele L, Calame DG, Lupski JR, Barcia G, Peduto C, Planté-Bordeneuve P, Dupuis L, Mendoza-Londono R, Stavropoulos DJ, Gillibert-Duplantier J, Besnard T, Do Souto Ferreira L, Cogné B, Bézieau S, Droit A, Corcos L, Lippert E, Férec C, Küry S, Bernard DG
Further characterization of the BRSK2-associated neurodevelopmental disorder
Palak Singhal, Tzung‐Chien Hsieh, Nadja Ehmke, Elena Bacchelli, Marta Viggiano, Elena Maestrini, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Alessandro Vaisfeld, Carey Ronspies, Sarah Burke, Joana Rosmaninho Salgado, Joaquim Sá, Sara Ribeiro, Amelle Shillington, Anjali Aggarwal, Christina Dailey, Carol Saunders, Florencia Del Viso, Chaya Nautiyal Murali, Melissa J MacPherson, Oana Caluseriu, Alain Verloès, Jonathan Lévy, Yline Capri, Hannah S. Kemmer, Manuel Holtgrewe, Philip M. Boone, Lance Rodan, et al. (90 authors)
Physiology and Clinical Manifestations of Pathologic Cranial Suture Widening.
Roth DM, Piña JO, MacPherson M, Budden C, Graf D
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics
Apurba Mainali, Taryn B. T. Athey, Shalini Bahl, Clara Hiu-Ling Hung, Oana Caluseriu, Alicia Chan, Alison J. Eaton, Shailly Jain Ghai, Pekka Kannus, Melissa J MacPherson, Karen Y. Niederhoffer, Komudi Siriwardena, Saadet Mercimek‐Andrews
Improving Care for Individuals with Disorders of Lateralized Overgrowth
Principal investigators: Ibrahim, Aishat
Keywords: Clinical Care Pathways; Genes; Lateralized Overgrowth; Lymphatic Malformations; Mutations; Patients; Pediatric Cancers; Testing; Vascular Anomalies; Vascular Birthmarks
Understanding the Mechanistic Basis for Disease-Causing Variants in CELF2-Related Neurodevelopmental Disorders
Principal investigators: Yang, Guang
Keywords: Brain Development; Celf2; Disease Mechanisms; Gene Expression; Genetic Disease Modeling; Genotype-Phenotype Relationships; Neurodevelopmental Disorders; Rna Regulation; Rna-Binding Protein
Understanding the Mechanistic Basis for Disease-Causing Variants in CELF2-Related Neurodevelopmental Disorders
Principal investigators: Yang, Guang
Keywords: Brain Development; Disease Mechanisms; Gene Expression; Genetic Disease Modeling; Genotype-Phenotype Relationships; Neurodevelopmental Disorders; Rna Regulation; Rna-Binding Protein
From public funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998 with their latest competition results, the Canada Foundation for Innovation, Genome Canada, the Canadian Space Agency, Canada Research Chairs, the Fonds de recherche du Québec, Ontario research funding, Michael Smith Health Research BC, the Canadian Cancer Society, Heart & Stroke and Brain Canada.
Frequent collaborators
- Peter Kannu and Roberto Mendoza-Londono: 10 shared papers
- Philippe Campeau and Peter Kannu: 7 shared papers
- Philippe Campeau and Alicia Chan: 4 shared papers
- Philippe Campeau and Roberto Mendoza-Londono: 4 shared papers
- Alicia Chan and Komudi Siriwardena: 3 shared papers
- Oana Caluseriu and Peter Kannu: 3 shared papers
- Oana Caluseriu and Roberto Mendoza-Londono: 3 shared papers
- Komudi Siriwardena and Roberto Mendoza-Londono: 2 shared papers
- Melissa MacPherson and Oana Caluseriu: 2 shared papers
- Arnaud Droit and Philippe Campeau: 1 shared paper
- Arnaud Droit and Melissa MacPherson: 1 shared paper
- Arnaud Droit and Roberto Mendoza-Londono: 1 shared paper
- Philippe Campeau and Melissa MacPherson: 1 shared paper
- Daniel Graf and Melissa MacPherson: 1 shared paper
- Alicia Chan and Melissa MacPherson: 1 shared paper
- Komudi Siriwardena and Melissa MacPherson: 1 shared paper
- Melissa MacPherson and Peter Kannu: 1 shared paper
- Melissa MacPherson and Roberto Mendoza-Londono: 1 shared paper
- Medical Genetics Dept
- Médecine
- Pediatrics
- Department of Paediatrics
- Other
Co-authors at University of Alberta, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
Oana Caluseriu
Medical Genetics Dept
2 shared papers, latest 2026
Peter Kannu
Medical Genetics Dept
1 shared papers, latest 2022
Roberto Mendoza-Londono
Department of Paediatrics
1 shared papers, latest 2026
Arnaud Droit
Médecine
1 shared papers, latest 2026
Philippe Campeau
Pediatrics
1 shared papers, latest 2026
Daniel Graf
Faculty
1 shared papers, latest 2024
Alicia Chan
Medical Genetics Dept
1 shared papers, latest 2022
Komudi Siriwardena
Medical Genetics Dept
1 shared papers, latest 2022
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Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.