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Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy
by
Costain, Gregory
,
Cordeiro, Dawn
,
Matviychuk, Diana
,
Mercimek-Andrews, Saadet
Published in
Neuroscience
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Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic
by
Al Balushi, Aaisha
,
Matviychuk, Diana
,
Jobling, Rebekah
,
Salomons, Gajja S.
,
Blaser, Susan
,
Mercimek‐Andrews, Saadet
Published in
JIMD reports
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P540: Genome-wide Sequencing Ontario (GSO): Canada’s first provincial clinical genome-wide sequencing service
by
Gillespie, Meredith
,
Hayeems, Robin
,
Marshall, Christian
,
Szuto, Anna
,
Chisholm, Caitlin
,
Stavropoulos, James
,
Huang, Lijia
,
Lau, Lynette
,
Sung, Wilson
,
Bergeron, Melanie Beaulieu
,
Higginbotham, Ted
,
Curtis, Meredith
,
Sriretnakumar, Venuja
,
Zaidi, Hassan
,
Hitchcock, Emma
,
Schaffer, Audrey
,
Hartley, Taila
,
Sawyer, Sarah
,
Ungar, Wendy
,
Costain, Gregory
,
Mendoza-Londono, Roberto
,
Pan, Anna
,
Keating, Jennifer
,
Matviychuk, Diana
,
Braid, Tamara
,
Carroll, Niri
,
Somerville, Martin
,
Boycott, Kym
Published in
Genetics in Medicine Open
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High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses
by
Jilani, Abdulhakim
,
Matviychuk, Diana
,
Blaser, Susan
,
Dyack, Sarah
,
Mathieu, Jean
,
Prasad, Asuri N.
,
Prasad, Chitra
,
Kyriakopoulou, Lianna
,
Mercimek‐Andrews, Saadet
Published in
JIMD reports
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Value of a café‐au‐lait macules screening clinic: Experience from The Hospital for Sick Children in Toronto
by
Albaghdadi, Mohammed
,
Berseneva, Maria
,
Pennal, Alexandra
,
Wan, Stephanie
,
Matviychuk, Diana
,
Shugar, Andrea
,
Kannu, Peter
,
Lara‐Corrales, Irene
Published in
Pediatric dermatology
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Student-Athletes’ Views on APOE Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury
by
Hercher, Laura S.
,
Caudle, Michelle
,
Griffin, Julie
,
Herzog, Matthew
,
Matviychuk, Diana
,
Tidwell, Jenna
Published in
Journal of genetic counseling
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Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic
by
Al Balushi, Aaisha
,
Matviychuk, Diana
,
Jobling, Rebekah
,
Salomons, Gajja S
,
Blaser, Susan
,
Mercimek-Andrews, Saadet
Published in
JIMD reports
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