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McNiven, Vanda
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1

P740: DMD or not DMD? Clinical genome sequencing in the int..:

Higginbotham, Edward ; Lau, Lynette ; Thiruvahindrapuram, Bhooma...
Genetics in Medicine Open.  2 (2024)  - p. 101644 , 2024
Link: https://doi.org/10.1016/..
 
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2

P290: Neonatal encephalopathy: Identification of underlying..:

Ambrose, Anastasia ; McNiven, Vanda ; Wilson, Diane...
Genetics in Medicine Open.  2 (2024)  - p. 101186 , 2024
Link: https://doi.org/10.1016/..
 
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3

P388: Noonan syndrome associated with a homozygous deep int..:

Dupuis, Lucie ; Szuto, Anna ; Marshall, Christian...
Genetics in Medicine Open.  2 (2024)  - p. 101282 , 2024
Link: https://doi.org/10.1016/..
 
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4

Expanding the phenotypic spectrum of NOTCH1 variants: clini..:

Stanley, Kaitlin J. ; Kalbfleisch, Kelsey J. ; Moran, Olivia M....
European Journal of Human Genetics.  32 (2024)  7 - p. 795-803 , 2024
Link: https://doi.org/10.1038/..
 
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5

Dystonia with myoclonus and vertical supranuclear gaze pals..:

Reyes, Nikolai Gil D. ; Di Luca, Daniel G. ; McNiven, Vanda.
Parkinsonism & Related Disorders.  106 (2023)  - p. 105239 , 2023
Link: https://doi.org/10.1016/..
 
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6

Isolated Dystonia as an Initial Presentation of GDAP2‐Relat..:

Di Luca, Daniel G. ; Wubuli, Dilinuer ; McNiven, Vanda.
Movement Disorders Clinical Practice.  10 (2023)  4 - p. 710-712 , 2023
Link: https://doi.org/10.1002/..
 
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7

Dystonia with myoclonus and vertical supranuclear gaze pals..:

Reyes, Nikolai Gil ; Di Luca, Daniel Garbin ; McNiven, Vanda.
Neurology.  100 (2023)  17_supplement_2 - p. , 2023
Link: https://doi.org/10.1212/..
 
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8

The Clinician-reported Genetic testing Utility InDEx (C-GUI..:

Hayeems, Robin Z. ; Luca, Stephanie ; Ungar, Wendy J....
Genetics in Medicine.  24 (2022)  2 - p. 430-438 , 2022
Link: https://doi.org/10.1016/..
 
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9

Bridging clinical care and research in Ontario, Canada: Max..:

Hartley, Taila ; Soubry, Élisabeth ; Acker, Meryl...
Clinical Genetics.  103 (2022)  3 - p. 288-300 , 2022
Link: https://doi.org/10.1111/..
 
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10

PURA syndrome: neuromuscular junction manifestations with p..:

Qashqari, Hebah ; McNiven, Vanda ; Gonorazky, Hernan...
Neuromuscular Disorders.  32 (2022)  10 - p. 842-844 , 2022
Link: https://doi.org/10.1016/..
 
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11

An HNRNPK-specific DNA methylation signature makes sense of..:

Choufani, Sanaa ; McNiven, Vanda ; Cytrynbaum, Cheryl...
The American Journal of Human Genetics.  109 (2022)  10 - p. 1867-1884 , 2022
Link: https://doi.org/10.1016/..
 
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12

SCYL1 disease and liver transplantation diagnosed by reanal..:

McNiven, Vanda ; Gattini, Daniela ; Siddiqui, Iram...
American Journal of Medical Genetics Part A.  185 (2021)  4 - p. 1091-1097 , 2021
Link: https://doi.org/10.1002/..
 
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13

The Nose Knows… or Does it? Olfactory Reference Syndrome in..:

McNiven, Vanda ; Mamane, Sarah ; Zai, Gwyneth.
Journal of Nervous & Mental Disease.  207 (2019)  3 - p. 145-151 , 2019
Link: https://doi.org/10.1097/..
 
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14

NID1 variant associated with occipital cephaloceles in a fa..:

McNiven, Vanda ; Ito, Yoko A. ; Hartley, Taila...
American Journal of Medical Genetics Part A.  179 (2019)  5 - p. 837-841 , 2019
Link: https://doi.org/10.1002/..
 
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15

Atypical Rett Syndrome and Intractable Epilepsy With Novel ..:

Kyriakopoulos, Paulina ; McNiven, Vanda ; Carter, Melissa T....
Child Neurology Open.  5 (2018)  - p. 2329048X1878794 , 2018
Link: https://doi.org/10.1177/..
 
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