Resham Ejaz
0000-0001-5846-4439
Publication & Citation Trends
Most Cited Works
Publications
29 total
Educating the Next-Generation Expert in Nephrology Genetics.
Cited by 0
Semantic Scholar
DEGS1-Related Hypomyelinating Leukodystrophy
Cited by 0
Semantic Scholar
Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related
Cited by 0
Semantic Scholar
The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions PDF
Cited by 36
OpenAlex
Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members
Cited by 3
OpenAlex
Diagnosis of TET3‐Related Beck–Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature
Cited by 1
Semantic Scholar
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. OA
Cited by 5
Semantic Scholar
Diagnosis and clinical presentation of two individuals with a rare <i>TCF20</i> pathogenic variant PDF
Cited by 4
OpenAlex
Research Topics
Genomics and Rare Diseases
(5)
Fetal and Pediatric Neurological Disorders
(4)
Chromatin Remodeling and Cancer
(4)
Cellular transport and secretion
(3)
Genomic variations and chromosomal abnormalities
(3)
Frequent Co-Authors
Affiliations
University of Toronto
Hospital for Sick Children
McMaster Children's Hospital
SickKids Foundation
McMaster University