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

द्वारा Grozeva, Detelina, Saad, Salha, Menzies, Georgina E., Sims, Rebecca
में प्रकाशित Curr Genet Med Rep (2019)

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

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

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

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

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

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

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

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

द्वारा 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
में प्रकाशित Front Genet (2019)

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

द्वारा 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
में प्रकाशित J Hum Genet (2015)

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

द्वारा 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.
प्रकाशित 2011

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

द्वारा 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
में प्रकाशित 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

द्वारा 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
प्रकाशित 2014

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

द्वारा 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
प्रकाशित 2012

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

द्वारा 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
में प्रकाशित Arch Gen Psychiatry (2010)

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

द्वारा 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
में प्रकाशित Hum Mutat (2015)

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

द्वारा 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.
में प्रकाशित 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

द्वारा 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
में प्रकाशित Mol Psychiatry (2012)

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

द्वारा 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
प्रकाशित 2008

Phenotypic insights into ADCY5‐associated disease

द्वारा 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.
में प्रकाशित Mov Disord (2016)

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

द्वारा 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.
में प्रकाशित Genet Med (2017)

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

द्वारा 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
प्रकाशित 2011

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

द्वारा 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.
प्रकाशित 2013