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Author/Creator Pope, Kate

11. Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy. Issue 6 (August 2014)

Authors:
Smith, Katherine R.; Leventer, Richard J.; Mackay, Mark T.; Pope, Kate; Gillies, Greta; Delatycki, Martin B.; Amor, David J.; Bahlo, Melanie; Lockhart, Paul J.
Journal:
International journal of stroke
Issue:
Volume 9:Issue 6(2014:Aug.)
Page Start:
E26
Record Type:
Journal Article
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12. One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of-Sulcus Dysplasia. (13th July 2021)

Authors:
Macdonald-Laurs, Emma; Maixner, Wirginia J.; Bailey, Catherine A.; Barton, Sarah M.; Mandelstam, Simone A.; Yuan-Mou Yang, Joseph; Warren, Aaron E.L.; Kean, Michael J.; Francis, Peter; MacGregor, Duncan; D'Arcy, Colleen; Wrennall, Jacquie A.; Davidson, Andrew; Pope, Kate; Leventer, Richard J.; Fr...
Journal:
Neurology
Issue:
Volume 97:Number 2(2021)
Page Start:
Record Type:
Journal Article
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13. Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans. Issue 3 (7th September 2021)

Authors:
Van Bergen, Nicole J; Bell, Katrina M; Carey, Kirsty; Gear, Russell; Massey, Sean; Murrell, Edward K; Gallacher, Lyndon; Pope, Kate; Lockhart, Paul J; Kornberg, Andrew; Pais, Lynn; Walkiewicz, Marzena; Simons, Cas; Wickramasinghe, Vihandha O; White, Susan M; Christodoulou, John
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 3(2022)
Page Start:
362
Record Type:
Journal Article
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14. Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data. Issue 9 (14th May 2020)

Authors:
Rafehi, Haloom; Szmulewicz, David J.; Pope, Kate; Wallis, Mathew; Christodoulou, John; White, Susan M.; Delatycki, Martin B.; Lockhart, Paul J.; Bahlo, Melanie
Journal:
Movement disorders
Issue:
Volume 35:Issue 9(2020)
Page Start:
1675
Record Type:
Journal Article
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15. Rasmussen encephalitis tissue transfer program. (11th June 2016)

Authors:
Kruse, Carol A.; Pardo, Carlos A.; Hartman, Adam L.; Jallo, George; Vining, Eileen P. G.; Voros, Joe; Gaillard, William D.; Liu, Judy; Oluigbo, Chima; Malone, Stephen; Bleasel, Andrew F.; Dexter, Mark; Micati, Alex; Velasco, Tonicarlo R.; Machado, Helio R.; Martino, Anthony M.; Huang, Adam; Wheat...
Journal:
Epilepsia
Issue:
Volume 57:issue 6(2016)
Page Start:
1005
Record Type:
Journal Article
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16. Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA. Issue 7 (17th June 2019)

Authors:
Lee, Wei Shern; Stephenson, Sarah E. M.; Howell, Katherine B.; Pope, Kate; Gillies, Greta; Wray, Alison; Maixner, Wirginia; Mandelstam, Simone A.; Berkovic, Samuel F.; Scheffer, Ingrid E.; MacGregor, Duncan; Harvey, Anthony Simon; Lockhart, Paul J.; Leventer, Richard J.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 6:Issue 7(2019)
Page Start:
1338
Record Type:
Journal Article
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17. Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome. (June 2018)

Authors:
Hildebrand, Michael S.; Harvey, A. Simon; Malone, Stephen; Damiano, John A.; Do, Hongdo; Ye, Zimeng; McQuillan, Lara; Maixner, Wirginia; Kalnins, Renate; Nolan, Bernadette; Wood, Martin; Ozturk, Ezgi; Jones, Nigel C.; Gillies, Greta; Pope, Kate; Lockhart, Paul J.; Dobrovic, Alexander; Leventer, R...
Journal:
Neurology
Issue:
Volume 4:Number 3(2018)
Page Start:
Record Type:
Journal Article
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18. Speech and language in a genotyped cohort of individuals with Kabuki syndrome. (8th March 2015)

Authors:
Morgan, Angela T.; Mei, Cristina; Da Costa, Annette; Fifer, Joanne; Lederer, Damien; Benoit, Valérie; McMillin, Margaret J.; Buckingham, Kati J.; Bamshad, Michael J.; Pope, Kate; White, Susan M.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 7(2015:Jul.)
Page Start:
1483
Record Type:
Journal Article
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