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Author/Creator Pope, Kate

1. A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. Issue 3 (7th February 2017)

Authors:
Marsh, Ashley P. L.; Yap, Patrick; Tan, Tiong; Pope, Kate; White, Susan M.; Chong, Belinda; Mcgillivray, George; Boys, Amber; Stephenson, Sarah E. M.; Leventer, Richard J.; Stark, Zornitza; Lockhart, Paul J.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 3(2017)
Page Start:
820
Record Type:
Journal Article
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2. Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. Issue 1 (28th January 2021)

Authors:
Ye, Zimeng; Chatterton, Zac; Pflueger, Jahnvi; Damiano, John A; McQuillan, Lara; Harvey, A Simon; Malone, Stephen; Do, Hongdo; Maixner, Wirginia; Schneider, Amy; Nolan, Bernadette; Wood, Martin; Lee, Wei Shern; Gillies, Greta; Pope, Kate; Wilson, Michael; Lockhart, Paul J; Dobrovic, Alexander; Sc...
Journal:
Brain communications
Issue:
Volume 3:Issue 1(2021)
Page Start:
Record Type:
Journal Article
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3. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. (August 2015)

Authors:
Marsh, Ashley P.L.; Lukic, Vesna; Pope, Kate; Bromhead, Catherine; Tankard, Rick; Ryan, Monique M.; Yiu, Eppie M.; Sim, Joe C.H.; Delatycki, Martin B.; Amor, David J.; McGillivray, George; Sherr, Elliott H.; Bahlo, Melanie; Leventer, Richard J.; Lockhart, Paul J.
Journal:
Neurology
Issue:
Volume 1:Number 2(2015)
Page Start:
Record Type:
Journal Article
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4. Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. Issue 5 (26th April 2017)

Authors:
Walsh, Maie; Bell, Katrina M.; Chong, Belinda; Creed, Emma; Brett, Gemma R.; Pope, Kate; Thorne, Natalie P.; Sadedin, Simon; Georgeson, Peter; Phelan, Dean G.; Day, Timothy; Taylor, Jessica A.; Sexton, Adrienne; Lockhart, Paul J.; Kiers, Lynette; Fahey, Michael; Macciocca, Ivan; Gaff, Clara L.; O...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 4:Issue 5(2017)
Page Start:
318
Record Type:
Journal Article
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5. Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. Issue 1 (12th December 2015)

Authors:
Sim, Joe C.; Scerri, Thomas; Fanjul‐Fernández, Miriam; Riseley, Jessica R.; Gillies, Greta; Pope, Kate; van Roozendaal, Hanna; Heng, Julian I.; Mandelstam, Simone A.; McGillivray, George; MacGregor, Duncan; Kannan, Lakshminarayanan; Maixner, Wirginia; Harvey, A. Simon; Amor, David J.; Delatycki, ...
Journal:
Annals of neurology
Issue:
Volume 79:Issue 1(2016:Jan.)
Page Start:
132
Record Type:
Journal Article
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6. Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. (12th March 2015)

Authors:
Scerri, Thomas; Riseley, Jessica R.; Gillies, Greta; Pope, Kate; Burgess, Rosemary; Mandelstam, Simone A.; Dibbens, Leanne; Chow, Chung W.; Maixner, Wirginia; Harvey, Anthony Simon; Jackson, Graeme D.; Amor, David J.; Delatycki, Martin B.; Crino, Peter B.; Berkovic, Samuel F.; Scheffer, Ingrid E....
Journal:
Annals of clinical and translational neurology
Issue:
Volume 2:Number 5(2015:May)
Page Start:
575
Record Type:
Journal Article
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7. Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy. (3rd November 2020)

Authors:
Lee, Wei Shern; Stephenson, Sarah E.M.; Pope, Kate; Gillies, Greta; Maixner, Wirginia; Macdonald-Laurs, Emma; MacGregor, Duncan; D'Arcy, Colleen; Jackson, Graeme; Harvey, A. Simon; Leventer, Richard J.; Lockhart, Paul J.
Journal:
Neurology
Issue:
Volume 95:Number 18(2020)
Page Start:
Record Type:
Journal Article
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8. Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing. Issue 1 (26th December 2020)

Authors:
Stutterd, Chloe A; Brock, Stefanie; Stouffs, Katrien; Fanjul-Fernandez, Miriam; Lockhart, Paul J; McGillivray, George; Mandelstam, Simone; Pope, Kate; Delatycki, Martin B; Jansen, Anna; Leventer, Richard J
Journal:
Brain communications
Issue:
Volume 3:Issue 1(2021)
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Record Type:
Journal Article
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10. 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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