Research
Read how they describe their research on their University of Ottawa profile.
Latest papers
Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.
Clinical genetics · 2019
Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.
Journal of child neurology · 2018
Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation.
Child neurology open · 2018
20 publications.
Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.
Carter MT, Venkateswaran S, Shapira-Zaltsberg G, Davila J, Humphreys P, Care4Rare Canada Consortium, Kernohan KD, Boycott KM
Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.
Gillespie MK, Humphreys P, McMillan HJ, Boycott KM
Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation.
Kyriakopoulos P, McNiven V, Carter MT, Humphreys P, Dyment D, Fantaneanu TA
Epidemiology and Outcomes of Arterial Ischemic Stroke in Children: The Canadian Pediatric Ischemic Stroke Registry
deVeber GA, Kirton A, Booth FA, Yager JY, Wirrell EC, Wood E, Shevell M, Surmava A-M, McCusker P, Massicotte MP
The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study.
Humphreys P, Barrowman N
What are the reasons for improved survival following spine fusion for severe scoliosis in Rett syndrome?
Humphreys P
Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.
Jefferson A, Leonard H, Siafarikas A, Woodhead H, Fyfe S, Ward LM, Munns C, Motil K, Tarquinio D, Shapiro JR, Brismar T, Ben-Zeev B, Bisgaard AM, Coppola G, Ellaway C, Freilinger M, Geerts S, Humphreys P, Jones M, Lane J, Larsson G, Lotan M, Percy A, Pineda M, Skinner S, Syhler B, Thompson S, Weiss B, Witt Engerström I, Downs J
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.
Dyment DA, Smith AC, Humphreys P, Schwartzentruber J, Beaulieu CL, FORGE Canada Consortium, Bulman DE, Majewski J, Woulfe J, Michaud J, Boycott KM
Measuring gross motor activities in Rett syndrome.
Humphreys P
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.
McMillan HJ, Humphreys P, Smith A, Schwartzentruber J, Chakraborty P, Bulman DE, Beaulieu CL, FORGE Canada Consortium, Majewski J, Boycott KM, Geraghty MT
Frequent collaborators
- Pediatrics
- Human Genetics
- Pathology and Laboratory Medicine
- Medical Imaging
- Interdisciplinary Health Sciences
- Other
Co-authors at University of Ottawa, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
Sharon Whiting
Faculty
2 shared papers, latest 2007
Jean Michaud
Pathology and Laboratory Medicine
2 shared papers, latest 2015
Jacek Majewski
Human Genetics
2 shared papers, latest 2015
Raywat Deonandan
Interdisciplinary Health Sciences
1 shared papers, latest 2007
David Dyment
Faculty
1 shared papers, latest 2018
Ian Manion
Faculty
1 shared papers, latest 2005
Adam Kirton
Pediatrics
1 shared papers, latest 2017
John Woulfe
Faculty
1 shared papers, latest 2015
Pranesh Chakraborty
Pediatrics
1 shared papers, latest 2015
Anthony Chan
Pediatrics
1 shared papers, latest 2017
Michael Geraghty
Pediatrics
1 shared papers, latest 2012
Brandon Meaney
Pediatrics
1 shared papers, latest 2017
Eda Wallace
Medical Imaging
1 shared papers, latest 2007
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Profile data last refreshed on September 25, 2026 from the university directory, publication records and CIHR, NSERC and SSHRC funding.