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

Por Grozeva, Detelina, Saad, Salha, Menzies, Georgina E., Sims, Rebecca
Publicado no Curr Genet Med Rep (2019)

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

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

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

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

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

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

Por Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A., Grozeva, Detelina, Raymond, F. L., Botella, María P., Tejada, María-Isabel
Publicado no Front Genet (2018)

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

Por 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
Publicado no Front Genet (2019)

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

Por 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
Publicado no J Hum Genet (2015)

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

Por 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.
Publicado em 2011

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

Por 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
Publicado no 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

Por 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
Publicado em 2014

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

Por 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
Publicado em 2012

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

Por 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
Publicado no Arch Gen Psychiatry (2010)

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

Por 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
Publicado no Hum Mutat (2015)

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

Por 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.
Publicado no 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

Por 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
Publicado no Mol Psychiatry (2012)

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

Por 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
Publicado em 2008

Phenotypic insights into ADCY5‐associated disease

Por 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.
Publicado no Mov Disord (2016)

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

Por 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.
Publicado no Genet Med (2017)

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

Por 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
Publicado em 2011

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

Por 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.
Publicado em 2013