Genetic influences on epilepsy outcomes: A whole‐exome sequencing and health care records data linkage study
Fonferko‐Shadrach, Beata, Lacey, Arron S., Strafford, Huw, Jones, Carys, Baker, Mark, Powell, Robert, Akbari, Ashley, Lyons, Ronan A., Ford, David, Thompson, Simon, Jones, Kerina H., Chung, Seo‐Kyung, Pickrell, William O., Rees, Mark I.
Published in Epilepsia (Copenhagen) (01.11.2023)
Published in Epilepsia (Copenhagen) (01.11.2023)
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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
CUSHION, Thomas D, DOBYNS, William B, UYANIK, Gokhan, RANKIN, Julia, REES, Mark I, PILZ, Daniela T, MULLINS, Jonathan G. L, STOODLEY, Neil, CHUNG, Seo-Kyung, FRY, Andrew E, HEHR, Ute, GUNNY, Roxana, AYLSWORTH, Arthur S, PRABHAKAR, Prab
Published in Brain (London, England : 1878) (01.02.2013)
Published in Brain (London, England : 1878) (01.02.2013)
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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy
Cushion, Thomas D., Paciorkowski, Alex R., Pilz, Daniela T., Mullins, Jonathan G.L., Seltzer, Laurie E., Marion, Robert W., Tuttle, Emily, Ghoneim, Dalia, Christian, Susan L., Chung, Seo-Kyung, Rees, Mark I., Dobyns, William B.
Published in American journal of human genetics (03.04.2014)
Published in American journal of human genetics (03.04.2014)
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The role of copy number variants in the genetic architecture of common familial epilepsies
Almanza Fuerte, Edith P., Nguyen, John, Mehaffey, Michelle, Sulovari, Arvis, Wang, Tianyun, Galey, Miranda, Miller, Danny E., Eichler, Evan E., Mefford, Heather C., Abou‐Khalil, Bassel, Afawi, Zaid Afawi, Allen, Andrew S., Amrom, Dina, Andermann, Eva, Bautista, Jocelyn F., Bellows, Susannah T., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alexis, Burgess, Rosemary, Cascino, Gregory D., Chung, Seo‐Kyung, Consalvo, Damian, Cossette, Patrick, Crompton, Douglas E., Crumrine, Patricia, Curtis, Sarah W., Delanty, Norman, Devinsky, Orrin, Dlugos, Dennis, Ellis, Colin A., Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., Freyer, Catharine, Friedman, Dan, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gravel, Micheline, Haas, Kevin, Harris, Rebekah V., Haut, Sheryl, Heinzen, Erin L., Helmers, Sandra, Henry, Olivia J., Joshi, Sucheta, Kirsch, Heidi E., Kivity, Sara, Knowlton, Robert C., Kossoff, Eric, Kuzniecky, Ruben, Loeb, Rebecca, Lowenstein, Daniel H., Marson, Anthony G., McCormack, Mark, McGuire, Shannon M., McKenna, Kevin, Motika, Paul V., Mullen, Saul A., Novotny, Edward J., O’Brien, Terence J., Oliver, Karen L., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack M., Park, Kristen L., Paterson, Sarah J., Petrovski, Slave, Pickrell, William O., Poduri, Annapurna, Rees, Mark I., Sadleir, Lynette G., Scheffer, Ingrid E., Shellhaas, Renee A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Singh, Rani K., Sirven, Joseph, Smith, Michael C., Smith, Philip E. M., Sperling, Michael R., Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith, Widdess‐Walsh, Peter, Winawer, Melodie R.
Published in Epilepsia (Copenhagen) (01.03.2024)
Published in Epilepsia (Copenhagen) (01.03.2024)
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Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients
Masri, Amira, Chung, Seo-Kyung, Rees, Mark I
Published in Brain & development (Tokyo. 1979) (01.04.2017)
Published in Brain & development (Tokyo. 1979) (01.04.2017)
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Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells
Nash, Benjamin M., Loi, To Ha, Fernando, Milan, Sabri, Amin, Robinson, James, Cheng, Anson, Eamegdool, Steven S., Farnsworth, Elizabeth, Bennetts, Bruce, Grigg, John R., Chung, Seo-Kyung, Gonzalez-Cordero, Anai, Jamieson, Robyn V.
Published in Stem cells international (13.12.2021)
Published in Stem cells international (13.12.2021)
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Mutations in the gene encoding GlyT2 ( SLC6A5 ) define a presynaptic component of human startle disease
Harvey, Kirsten, Shiang, Rita, Rees, Mark I, Abbott, Kim J, Chung, Seo-Kyung, Graham, Gail E, Tijssen, Marina A J, Supplisson, Stéphane, Harvey, Robert J, Beatty, Sarah, Armstrong, Linlea, Duguid, Ian C, Smart, Trevor G, Pearce, Brian R, Owen, Michael J, Stephenson, John B P, Zuberi, Sameer M, van den Maagdenberg, Arn M J M, Thomas, Philip
Published in Nature genetics (01.07.2006)
Published in Nature genetics (01.07.2006)
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Novel missense mutations in the glycine receptor β subunit gene ( GLRB ) in startle disease
James, Victoria M, Bode, Anna, Chung, Seo-Kyung, Gill, Jennifer L, Nielsen, Maartje, Cowan, Frances M, Vujic, Mihailo, Thomas, Rhys H, Rees, Mark I, Harvey, Kirsten, Keramidas, Angelo, Topf, Maya, Ginjaar, Ieke, Lynch, Joseph W, Harvey, Robert J
Published in Neurobiology of disease (01.04.2013)
Published in Neurobiology of disease (01.04.2013)
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GLRB is the third major gene of effect in hyperekplexia
Chung, Seo-Kyung, Bode, Anna, Cushion, Thomas D, Thomas, Rhys H, Hunt, Charlotte, Wood, Sian-Elin, Pickrell, William O, Drew, Cheney J G, Yamashita, Sumimasa, Shiang, Rita, Leiz, Steffen, Longardt, Ann-Carolyn, Longhardt, Ann-Carolyn, Raile, Vera, Weschke, Bernhard, Puri, Ratna D, Verma, Ishwar C, Harvey, Robert J, Ratnasinghe, Didi D, Parker, Michael, Rittey, Chris, Masri, Amira, Lingappa, Lokesh, Howell, Owain W, Vanbellinghen, Jean-François, Mullins, Jonathan G, Lynch, Joseph W, Rees, Mark I
Published in Human molecular genetics (01.03.2013)
Published in Human molecular genetics (01.03.2013)
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Brugada syndrome masquerading as febrile seizures
Skinner, Jonathan Robert, Chung, Seo-Kyung, Nel, Carey-Anne, Shelling, Andrew Neil, Crawford, Jackie Robyn, McKenzie, Neil, Pinnock, Ralph, French, John Kerswell, Rees, Mark Ian
Published in Pediatrics (Evanston) (01.05.2007)
Published in Pediatrics (Evanston) (01.05.2007)
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Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene
Gill, Jennifer L, Capper, Deborah, Vanbellinghen, Jean-François, Chung, Seo-Kyung, Higgins, Robert J, Rees, Mark I, Shelton, G. Diane, Harvey, Robert J
Published in Neurobiology of disease (01.07.2011)
Published in Neurobiology of disease (01.07.2011)
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Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy
Leu, Costin, Balestrini, Simona, Maher, Bridget, Hernández-Hernández, Laura, Gormley, Padhraig, Hämäläinen, Eija, Heggeli, Kristin, Schoeler, Natasha, Novy, Jan, Willis, Joseph, Plagnol, Vincent, Ellis, Rachael, Reavey, Eleanor, O'Regan, Mary, Pickrell, William O., Thomas, Rhys H., Chung, Seo-Kyung, Delanty, Norman, McMahon, Jacinta M., Malone, Stephen, Sadleir, Lynette G., Berkovic, Samuel F., Nashef, Lina, Zuberi, Sameer M., Rees, Mark I., Cavalleri, Gianpiero L., Sander, Josemir W., Hughes, Elaine, Helen Cross, J., Scheffer, Ingrid E., Palotie, Aarno, Sisodiya, Sanjay M.
Published in EBioMedicine (01.09.2015)
Published in EBioMedicine (01.09.2015)
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Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome
Eddy, Carey-Anne, MacCormick, Judith M, Chung, Seo-Kyung, Crawford, Jackie R, Love, Donald R, Rees, Mark I, Skinner, Jonathan R, Shelling, Andrew N
Published in Heart rhythm (01.09.2008)
Published in Heart rhythm (01.09.2008)
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Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: A marker of severe KCNQ1 dysfunction?
Rice, Kathryn S., MBChB, Dickson, Graeme, FRACP, Lane, Mark, FRACP, Crawford, Jackie, NZCS, Chung, Seo-Kyung, PhD, Rees, Mark I., PhD, Shelling, Andrew N., PhD, Love, Donald R., PhD, Skinner, Jonathan R., MD
Published in Heart rhythm (01.04.2011)
Published in Heart rhythm (01.04.2011)
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Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1
Hmami, Fouzia, Wood, Sian-Elin, Chaouki, Sana, Oulmaati, Abdellah, Hida, Mustapha, Rees, Mark I., Chung, Seo-Kyung, Bouharrou, Abdelhak
Published in Epileptic disorders (01.09.2014)
Published in Epileptic disorders (01.09.2014)
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The glycinergic system in human startle disease: a genetic screening approach
Davies, Jeff S, Chung, Seo-Kyung, Thomas, Rhys H, Robinson, Angela, Hammond, Carrie L, Mullins, Jonathan G L, Carta, Eloisa, Pearce, Brian R, Harvey, Kirsten, Harvey, Robert J, Rees, Mark I
Published in Frontiers in molecular neuroscience (01.01.2010)
Published in Frontiers in molecular neuroscience (01.01.2010)
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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
Piard, Juliette, Umanah, George K Essien, Harms, Frederike L, Abalde-Atristain, Leire, Amram, Daniel, Chang, Melissa, Chen, Rong, Alawi, Malik, Salpietro, Vincenzo, Rees, Mark I, Chung, Seo-Kyung, Houlden, Henry, Verloes, Alain, Dawson, Ted M, Dawson, Valina L, Van Maldergem, Lionel, Kutsche, Kerstin
Published in Brain (London, England : 1878) (01.03.2018)
Published in Brain (London, England : 1878) (01.03.2018)
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Symptoms and Signs Associated with Syncope in Young People with Primary Cardiac Arrhythmias
MacCormick, Judith M., MBChB, Crawford, Jackie R., NZCS, Chung, Seo-Kyung, PhD, Shelling, Andrew N., PhD, Evans, Cary-Anne, MSc (Med), Rees, Mark I., PhD, Smith, Warren M., MBChB, Crozier, Ian G., MBChB, McAlister, Hugh, Skinner, Jon R., MD
Published in Heart, lung & circulation (01.09.2011)
Published in Heart, lung & circulation (01.09.2011)
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Journal Article
Long QT and Brugada syndrome gene mutations in New Zealand
Chung, Seo-Kyung, MacCormick, Judith M, McCulley, Caroline H, Crawford, Jackie, Eddy, Carey-Anne, Mitchell, Edwin A, Shelling, Andrew N, French, John K, Skinner, Jonathan R, Rees, Mark I
Published in Heart rhythm (01.10.2007)
Published in Heart rhythm (01.10.2007)
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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes
Oegema, Renske, Cushion, Thomas D, Phelps, Ian G, Chung, Seo-Kyung, Dempsey, Jennifer C, Collins, Sarah, Mullins, Jonathan G L, Dudding, Tracy, Gill, Harinder, Green, Andrew J, Dobyns, William B, Ishak, Gisele E, Rees, Mark I, Doherty, Dan
Published in Human molecular genetics (15.09.2015)
Published in Human molecular genetics (15.09.2015)
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