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Author/Creator Mefford, Heather C.

3. A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies. (September 2016)

Authors:
Tsai, Meng-Han; Kuo, Pei-Wen; Myers, Candace T.; Li, Shih-Wen; Lin, Wei-Che; Fu, Ting-Ying; Chang, Hsin-Yun; Mefford, Heather C.; Chang, Yao-Chung; Tsai, Jin-Wu
Journal:
European journal of paediatric neurology
Issue:
Volume 20:Number 5(2016:Sep.)
Page Start:
788
Record Type:
Journal Article
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4. A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy. (11th May 2018)

Authors:
Howell, Katherine B.; Eggers, Stefanie; Dalziel, Kim; Riseley, Jessica; Mandelstam, Simone; Myers, Candace T.; McMahon, Jacinta M.; Schneider, Amy; Carvill, Gemma L.; Mefford, Heather C.; Scheffer, Ingrid E.; Harvey, A. Simon
Journal:
Epilepsia
Issue:
Volume 59:issue 6(2018)
Page Start:
1177
Record Type:
Journal Article
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5. A targeted resequencing gene panel for focal epilepsy. (26th April 2016)

Authors:
Hildebrand, Michael S.; Myers, Candace T.; Carvill, Gemma L.; Regan, Brigid M.; Damiano, John A.; Mullen, Saul A.; Newton, Mark R.; Nair, Umesh; Gazina, Elena V.; Milligan, Carol J.; Reid, Christopher A.; Petrou, Steven; Scheffer, Ingrid E.; Berkovic, Samuel F.; Mefford, Heather C.
Journal:
Neurology
Issue:
Volume 86:Number 17(2016)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. Autism and developmental disability caused by KCNQ3 gain‐of‐function variants. Issue 2 (26th June 2019)

Authors:
Sands, Tristan T.; Miceli, Francesco; Lesca, Gaetan; Beck, Anita E.; Sadleir, Lynette G.; Arrington, Daniel K.; Schönewolf‐Greulich, Bitten; Moutton, Sébastien; Lauritano, Anna; Nappi, Piera; Soldovieri, Maria Virginia; Scheffer, Ingrid E.; Mefford, Heather C.; Stong, Nicholas; Heinzen, Erin L.; ...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 2(2019)
Page Start:
181
Record Type:
Journal Article
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10. Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies. Issue 3 (25th February 2019)

Authors:
Pippucci, Tommaso; Licchetta, Laura; Baldassari, Sara; Marconi, Caterina; De Luise, Monica; Myers, Candace; Nardi, Elena; Provini, Federica; Cameli, Cinzia; Minardi, Raffaella; Bacchelli, Elena; Giordano, Lucio; Crichiutti, Giovanni; d'Orsi, Giuseppe; Seri, Marco; Gasparre, Giuseppe; Mefford, Hea...
Other Names:
Bianchi Amedeo investigator.; Striano Pasquale investigator.; Gambardella Antonio investigator.; Meletti Stefano investigator.; Dilena Roberto investigator.; Santucci Margherita investigator.; Marini Carla investigator.; Vignoli Aglaia investigator.; Gobbi Giuseppe investigator.; Briatore Eleonor...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 6:Issue 3(2019)
Page Start:
475
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗