1. Advancing the diagnosis of repeat expansion disorders. Issue 3 (March 2022) Authors: Lockhart, Paul J Journal: Lancet neurology Issue: Volume 21:Issue 3(2022) Page Start: 205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. Issue 14 (8th February 2022) Authors: Green, Timothy E; Motelow, Joshua E; Bennett, Mark F; Ye, Zimeng; Bennett, Caitlin A; Griffin, Nicole G; Damiano, John A; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Lockhart, Paul J; Sadleir, Lynette G; Boys, Amber; Scheffer, Ingrid E; Major, Heather; Darbro, Benjamin W; Bahlo, Mela... Journal: Human molecular genetics Issue: Volume 31:Issue 14(2022) Page Start: 2307 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations. (14th February 2020) Authors: Spencer‐Smith, Megan; Knight, Jacquelyn L; Lacaze, Emmanuelle; Depienne, Christel; Lockhart, Paul J; Richards, Linda J; Heron, Delphine; Leventer, Richard J; Robinson, Gail A Other Names: Ceslis Amelia investigator.; Gibson Emily investigator.; Giraudat Kim investigator.; McIlroy Alissandra investigator.; Paul Lynn K investigator.; Siffredi Vanessa investigator.; Bahlo Melanie investigator.; Barker Megan investigator.; Blondiaux Eleonore investigator.; Edwards Timothy J investigat... Journal: Developmental medicine & child neurology Issue: Volume 62:Number 6(2020) Page Start: 758 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia. Issue 1 (19th December 2022) Authors: Lee, Wei Shern; Macdonald‐Laurs, Emma; Stephenson, Sarah E M; D'Arcy, Colleen; MacGregor, Duncan; Leventer, Richard J; Maixner, Wirginia; Harvey, A Simon; Lockhart, Paul J Journal: Epilepsia open Issue: Volume 8:Issue 1(2023) Page Start: 205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗