Sohnee Ahmed

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Michael Brudno, Daniele Merico, Christian R Marshall, 2016, npj Genomic Medicine.

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

C. Marshall, L. Hazrati, P. Ray, 2018, Human molecular genetics.

Epilepsy and outcome in FOXG1‐related disorders

Laurie E. Seltzer, J. Wheless, W. Dobyns, 2014, Epilepsia.

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

J. Lupski, D. Muzny, S. Jhangiani, 2016, American journal of human genetics.

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy

M. Tarnopolsky, B. Brais, O. Suchowersky, 2020, Movement disorders clinical practice.

Risk for Patient Harm in Canadian Genetic Counseling Practice: It’s Time to Consider Regulation

Sohnee Ahmed, N. Quercia, A. Shugar, 2017, Journal of Genetic Counseling.

Clinical and genetic study of hereditary spastic paraplegia in Canada

O. Suchowersky, G. Rouleau, K. Boycott, 2016, Neurology: Genetics.

Epilepsy and outcome in FOXG1‐related disorders

Laurie E. Seltzer, J. Wheless, W. Dobyns, 2014, Epilepsia.