Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Saadet Mercimek‐Mahmutoglu, Jaina Patel, Dawn Cordeiro, +11

Epilepsia

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

Anne Roscher, Jaina Patel, Stacy Hewson, +7

Molecular Genetics and Metabolism

Metabolic SyndromeMetabolic DisorderDiabetesNatural HistoryLong-term Outcome +4

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy

Amal Al Teneiji, Theodora U. J. Bruun, Dawn Cordeiro, +5

Metabolic Brain Disease

MedicineNeuropharmacologyNeuroscienceNeurologyPharmacology +2

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene

Caro-Lyne DesRoches, Jaina Patel, Peixiang Wang, +4

Gene

Creatine Transporter DeficiencyGenetic DisorderGeneticsPhysiologyInherited Metabolic Disease +8

Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study

Christel Tran, Jaina Patel, Stacy Hewson, +6

European Journal of Paediatric Neurology

X-linked AdrenoleukodystrophyRetrospective Cohort StudyUrologyAdrenal GlandLong-term Outcome +2

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study

Saadet Mercimek‐Mahmutoglu, Sarah Sidky, Keith Hyland, +10

Orphanet Journal of Rare Diseases

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene

Caro-Lyne DesRoches, Jaina Patel, Peixiang Wang, +4

Molecular Genetics and Genomics

Carrier FrequencyAllelic VariantGenetic DisorderGeneticsHuman Polymorphism +6

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Jaina Patel, Dawn Cordeiro, S. Hewson, +3

Journal of the Neurological Sciences

Genetic TestingNeurological DisorderGenetic DisorderClinical GeneticsPediatrics +4

Success rates and complications of autologous onlay bone grafts and sinus lifts in patients with congenital hypodontia and after trauma

John Breeze, Jaina Patel, M.S. Dover, +1

British Journal of Oral and Maxillofacial Surgery

MedicineSuccess RatesDistraction OsteogenesisOrthognathic SurgerySurgery +5