Browsing by Author Scheffer, Ingrid

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Issue DateTitleAuthor(s)Citation
2018Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 EpilepsyDale, Russell; Gecz, Jozef; Hughes, James; Kumar, Raman; Mandelstam, Simone; Mincheva-Tasheva, Stefka; Pederick, Daniel; Petrou, Steven; Piltz, Sandra; Richards, Kay; Scheffer, Ingrid; Thomas, Paul; Childrens Hospital Westmead: Paediatrics & Child HealthAbnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy, Neuron, vol.97, 1, 2018,pp 59-66
2010Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related DisordersBennetts, Bruce; Christodoulou, John; Cloosterman, Desiree; Ellaway, Carolyn; Ho, Gladys; White, Rose; Bienvenu, Thierry; Cox, Timothy; Darmanian, Artur; Fischer, Alexandra; Fullston, Tod; Gecz, Jozef; Kalra, Veena; Nectoux, Juliette; Scheffer, Ingrid; Schmidt, Swetlana; Tong, Xing Zhang; Yendle, Simone; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Biological Sciences; Central Clinical School: OfficeCyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders, Twin Research and Human Genetics, vol.13, 2,pp 168-178
2012Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsWilson, Meredith; Christie, Louise; Corbett, Mark; Field, Michael; Friend, Kathryn; Gardner, Alison; Gecz, Jozef; Gill, Deepak S; Glubb, Georgie; Hobson, Lynne; Scheffer, Ingrid; Shaw, Marie; Willis-Owen, Saffron; Children's Hospital Westmead: Paediatrics & Child HealthExpanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations, European Journal of Human Genetics, vol.20, 7, 2012,pp 806-809
2014Genetic analysis of PHOX2B in sudden unexpected death in epilepsy casesBagnall, Richard; Semsarian, Chris; Berkovic, Samuel F.; Crompton, Douglas; Cutmore, Carina; Regan, Bridgid; Scheffer, Ingrid; Central Clinical School: Centenary Institute; Central Clinical School: Centenary InstituteGenetic analysis of PHOX2B in sudden unexpected death in epilepsy cases, Neurology, vol.83, 11, 2014,pp 1018-1021
2012In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remissionBurke, David; Tomlinson, Susan; Berkovic, Samuel F.; Bostock, Hugh; Grinton, Bronwyn; Hanna, Michael; Kiernan, Matthew C; Kullmann, Dimitri; Scheffer, Ingrid; Central Clinical School: Medicine; Central Clinical School: MedicineIn vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission, Brain: a journal of neurology, vol.135, N/A, 2012,pp 3144-3152
2013Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Bleasel, Andrew; Afawi, Zaid; Andrade, Danielle M; Berkovic, Samuel F.; Bye, Ann M. E.; Calvert, Sophie; Carvill, Gemma L; Cook, Joseph; Dorschner, Michael O; Freeman, Jeremy L; Gill, D S; Heavin, Sinead; Howell, Katherine B; Khan, Adiba; Kivity, Sara; Korczyn, Amos; Lerman-Sagie, Tally; Lev, Dorit; Møller2, Rikke S; Mackay, Mark; Malone, Stephen; McMahon, Jacinta; Mefford, Heather; O’Roak, Brian J; Rodriguez-Casero, Victoria; Sadleir, Lynette; Scheffer, Ingrid; Shendure, Jay; Stanley, Thorsten; Wallace, Geoffrey; Weaver, Molly; Webster, Richard; Yendle, Simone; Zelnick, Nathanel; Deans Unit: (CIPHER)Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1, Nature Genetics, vol.45, 7, 2013,pp 825-830