Benefits and Challenges of Rare Genetic Variation in Alzheimer’s Disease

gan Grozeva, Detelina, Saad, Salha, Menzies, Georgina E., Sims, Rebecca
Cyhoeddwyd yn Curr Genet Med Rep (2019)

Bipolar Disorder is associated with the rs6971 polymorphism in the gene encoding 18 kDa Translocator Protein (TSPO)()

gan Colasanti, Alessandro, Owen, David R., Grozeva, Detelina, Rabiner, Eugenii A., Matthews, Paul M., Craddock, Nick, Young, Allan H.
Cyhoeddwyd 2013

Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia

gan Grozeva, Detelina, Conrad, Donald F., Barnes, Chris P., Hurles, Matthew, Owen, Michael J., O'Donovan, Michael C., Craddock, Nick, Kirov, George
Cyhoeddwyd 2012

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

gan Kirov, George, Grozeva, Detelina, Norton, Nadine, Ivanov, Dobril, Mantripragada, Kiran K., Holmans, Peter, Craddock, Nick, Owen, Michael J., O'Donovan, Michael C.
Cyhoeddwyd 2009

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syn...

gan Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A., Grozeva, Detelina, Raymond, F. L., Botella, María P., Tejada, María-Isabel
Cyhoeddwyd yn Front Genet (2018)

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

gan Sanchis-Juan, Alba, Bitsara, Christina, Low, Kay Yi, Carss, Keren J., French, Courtney E., Spasic-Boskovic, Olivera, Jarvis, Joanna, Field, Michael, Raymond, F. Lucy, Grozeva, Detelina
Cyhoeddwyd yn Front Genet (2019)

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

gan Bianciardi, Laura, Fichera, Marco, Failla, Pinella, Di Marco, Chiara, Grozeva, Detelina, Mencarelli, Maria Antonietta, Spiga, Ottavia, Mari, Francesca, Meloni, Ilaria, Raymond, Lucy, Renieri, Alessandra, Romano, Corrado, Ariani, Francesca
Cyhoeddwyd yn J Hum Genet (2015)

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries

gan Williams, Hywel J., Craddock, Nicholas, Russo, Giancarlo, Hamshere, Marian L., Moskvina, Valentina, Dwyer, Sarah, Smith, Rhodri L., Green, Elaine, Grozeva, Detelina, Holmans, Peter, Owen, Michael J., O'Donovan, Michael C.
Cyhoeddwyd 2011

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

gan Baker, Kate, Gordon, Sarah L., Grozeva, Detelina, van Kogelenberg, Margriet, Roberts, Nicola Y., Pike, Michael, Blair, Edward, Hurles, Matthew E., Chong, W. Kling, Baldeweg, Torsten, Kurian, Manju A., Boyd, Stewart G., Cousin, Michael A., Raymond, F. Lucy
Cyhoeddwyd yn J Clin Invest (2015)

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

gan Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Parker, Michael J., Archer, Hayley, Firth, Helen V., Park, Soo-Mi, Canham, Natalie, Holder, Susan E., Wilson, Meredith, Hackett, Anna, Field, Michael, Floyd, James A.B., Hurles, Matthew, Raymond, F. Lucy
Cyhoeddwyd 2014

Replication of bipolar disorder susceptibility alleles and identification of 2 novel genome-wide significant associations in a new bipolar disorder case-control sample

gan Green, Elaine K, Hamshere, Marian, Forty, Liz, Gordon-Smith, Katherine, Fraser, Christine, Russell, Elen, Grozeva, Detelina, Kirov, George, Holmans, Peter, Moran, Jennifer L, Purcell, Shaun, Sklar, Pamela, Owen, Michael J, O’Donovan, Michael C, Jones, Lisa, Jones, Ian R, Craddock, Nick
Cyhoeddwyd 2012

Rare Copy Number Variants: A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia

gan Grozeva, Detelina, Kirov, George, Ivanov, Dobril, Jones, Ian R., Jones, Lisa, Green, Elaine K., St Clair, David M., Young, Allan H., Ferrier, Nicol, Farmer, Anne E., McGuffin, Peter, Holmans, Peter A., Owen, Michael J., O’Donovan, Michael C., Craddock, Nick
Cyhoeddwyd yn Arch Gen Psychiatry (2010)

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

gan Grozeva, Detelina, Carss, Keren, Spasic‐Boskovic, Olivera, Tejada, Maria‐Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy
Cyhoeddwyd yn Hum Mutat (2015)

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

gan Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E., Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R., Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H., Raymond, F. Lucy, Carss, Keren J.
Cyhoeddwyd yn Genome Med (2018)

Genome wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC

gan Hamshere, Marian L, Walters, James T R, Smith, Rhodri, Richards, Alexander L, Green, Elaine, Grozeva, Detelina, Jones, Ian, Forty, Liz, Jones, Lisa, Gordon-Smith, Katherine, Riley, Brien, O’Neill, Tony, Kendler, Kenneth S, Sklar, Pamela, Purcell, Shaun, Kranz, Janice, Morris, Derek, Gill, Michael, Holmans, Peter, Craddock, Nick, Corvin, Aiden, Owen, Michael J, O’Donovan, Michael C
Cyhoeddwyd yn Mol Psychiatry (2012)

Strong genetic evidence for a selective influence of GABA(A) receptors on a component of the bipolar disorder phenotype

gan Craddock, Nick, Jones, Lisa, Jones, Ian R, Kirov, George, Green, Elaine K, Grozeva, Detelina, Moskvina, Valentina, Nikolov, Ivan, Hamshere, Marian L, Vukcevic, Damjan, Caesar, Sian, Gordon-Smith, Katharine, Fraser, Christine, Russell, Ellie, Norton, Nadine, Breen, Gerome, Clair, David St, Collier, David A, Young, Allan H, Ferrier, I Nicol, Farmer, Anne, McGuffin, Peter, Holmans, Peter A, Donnelly, Peter, Owen, Michael J, O’Donovan, Michael C
Cyhoeddwyd 2008

Phenotypic insights into ADCY5‐associated disease

gan Chang, Florence C.F., Westenberger, Ana, Dale, Russell C., Smith, Martin, Pall, Hardev S., Perez‐Dueñas, Belen, Grattan‐Smith, Padraic, Ouvrier, Robert A., Mahant, Neil, Hanna, Bernadette C., Hunter, Matthew, Lawson, John A., Max, Christoph, Sachdev, Rani, Meyer, Esther, Crimmins, Dennis, Pryor, Donald, Morris, John G.L., Münchau, Alex, Grozeva, Detelina, Carss, Keren J., Raymond, Lucy, Kurian, Manju A., Klein, Christine, Fung, Victor S.C.
Cyhoeddwyd yn Mov Disord (2016)

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

gan Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, DDD study, FitzPatrick, David R.
Cyhoeddwyd yn Genet Med (2017)

Genome Wide Linkage Analysis of 972 Bipolar Pedigrees Using Single Nucleotide Polymorphisms

gan Badner, Judith A, Koller, Daniel, Foroud, Tatiana, Edenberg, Howard, Nurnberger, John I, Zandi, Peter P, Willour, Virginia L., McMahon, Francis J, Potash, James B, Hamshere, Marian, Grozeva, Detelina, Green, Elaine, Kirov, George, Jones, Ian, Jones, Lisa, Craddock, Nicholas, Morris, Derek, Segurado, Ricardo, Gill, Mike, Sadovnick, Dessa, Remick, Ronald, Keck, Paul, Kelsoe, John, Ayub, Muhammad, MacLean, Alan, Blackwood, Douglas, Liu, Chun-Yu, Gershon, Elliot S, McMahon, William, Lyon, Gholson, Robinson, Reid, Ross, Jessica, Byerley, William
Cyhoeddwyd 2011

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia

gan Mulle, Jennifer Gladys, Pulver, Ann E., McGrath, John M., Wolyniec, Paula, Dodd, Anne F., Cutler, David J., Sebat, Jonathan, Malhotra, Dheeraj, Nestadt, Gerald, Conrad, Donald F., Hurles, Matthew, Barnes, Chris P., Ikeda, Masashi, Iwata, Nakao, Levinson, Douglas F., Gejman, Pablo V., Sanders, Alan R., Duan, Jubao, Mitchell, Adele A., Peter, Inga, Sklar, Pamela, O’Dushlaine, Colm T., Grozeva, Detelina, O’Donovan, Michael C., Owen, Michael J., Hultman, Christina M., Kähler, Anna K., Sullivan, Patrick F., Kirov, George, Warren, Stephen T.
Cyhoeddwyd 2013