Whole genome sequencing of 91 multiplex schizophrenia families reveals increased burden of rare, exonic copy number variation in schizophrenia probands and genetic heterogeneity
Khan, Fayeza F., Melton, Phillip E., McCarthy, Nina S., Morar, Bharti, Blangero, John, Moses, Eric K., Jablensky, Assen
Published in Schizophrenia research (01.07.2018)
Published in Schizophrenia research (01.07.2018)
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Deleterious GRM1 mutations in schizophrenia
Ayoub, Mohammed Akli, Angelicheva, Dora, Vile, David, Chandler, David, Morar, Bharti, Cavanaugh, Juleen A, Visscher, Peter M, Jablensky, Assen, Pfleger, Kevin D G, Kalaydjieva, Luba
Published in PloS one (20.03.2012)
Published in PloS one (20.03.2012)
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LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population
AZMANOV, Dimitar N, DIMITROVA, Stanislava, SOODYALL, Himla, CHAKRABARTI, Subhabrata, PADH, Harish, LOPEZ-NEVOT, Miguel A, CHERNODRINSKA, Violeta, ANGUELOV, Botio, MAJUMDER, Partha, ANGELOVA, Lyudmila, KANEVA, Radka, MACKEY, David A, FLOREZ, Laura, TOURNEV, Ivailo, KALAYDJIEVA, Luba, CHERNINKOVA, Sylvia, DRAGANOV, Dragomir, MORAR, Bharti, SAAT, Rosmawati, JUAN, Manel, AROSTEGUI, Juan I, GANGULY, Sriparna
Published in European journal of human genetics : EJHG (01.03.2011)
Published in European journal of human genetics : EJHG (01.03.2011)
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Impact of the Reelin signaling cascade (Ligands-Receptors-Adaptor Complex) on cognition in schizophrenia
Verbrugghe, Phebe, Bouwer, Sonja, Wiltshire, Steven, Carter, Kim, Chandler, David, Cooper, Matthew, Morar, Bharti, Razif, Muhammad F.M., Henders, Anjali, Badcock, Johanna C., Dragovic, Milan, Carr, Vaughan, Almeida, Osvaldo P., Flicker, Leon, Montgomery, Grant, Jablensky, Assen, Kalaydjieva, Luba
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2012)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2012)
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Integrity of genome-wide genotype data from low passage lymphoblastoid cell lines
McCarthy, Nina S., Allan, Spencer M., Chandler, David, Jablensky, Assen, Morar, Bharti
Published in Genomics data (01.09.2016)
Published in Genomics data (01.09.2016)
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Psychosis susceptibility gene ZNF804A and cognitive performance in schizophrenia
Walters, James T R, Corvin, Aiden, Owen, Michael J, Williams, Hywel, Dragovic, Milan, Quinn, Emma M, Judge, Róisín, Smith, Daniel J, Norton, Nadine, Giegling, Ina, Hartmann, Annette M, Möller, Hans-Jürgen, Muglia, Pierandrea, Moskvina, Valentina, Dwyer, Sarah, O'Donoghue, Therese, Morar, Bharti, Cooper, Matthew, Chandler, David, Jablensky, Assen, Gill, Michael, Kaladjieva, Luba, Morris, Derek W, O'Donovan, Michael C, Rujescu, Dan, Donohoe, Gary
Published in Archives of general psychiatry (01.07.2010)
Published in Archives of general psychiatry (01.07.2010)
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Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement
Azmanov, Dimitar N, Siira, Stefan J, Chamova, Teodora, Kaprelyan, Ara, Guergueltcheva, Velina, Shearwood, Anne-Marie J, Liu, Ganqiang, Morar, Bharti, Rackham, Oliver, Bynevelt, Michael, Grudkova, Margarita, Kamenov, Zdravko, Svechtarov, Vassil, Tournev, Ivailo, Kalaydjieva, Luba, Filipovska, Aleksandra
Published in Human molecular genetics (01.10.2016)
Published in Human molecular genetics (01.10.2016)
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Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
Humbert, Camille, Silbermann, Flora, Morar, Bharti, Parisot, Mélanie, Zarhrate, Mohammed, Masson, Cécile, Tores, Frédéric, Blanchet, Patricia, Perez, Marie-José, Petrov, Yuliya, Khau Van Kien, Philippe, Roume, Joelle, Leroy, Brigitte, Gribouval, Olivier, Kalaydjieva, Luba, Heidet, Laurence, Salomon, Rémi, Antignac, Corinne, Benmerah, Alexandre, Saunier, Sophie, Jeanpierre, Cécile
Published in American journal of human genetics (06.02.2014)
Published in American journal of human genetics (06.02.2014)
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UFM1 founder mutation in the Roma population causes recessive variant of H-ABC
Hamilton, Eline M C, Bertini, Enrico, Kalaydjieva, Luba, Morar, Bharti, Dojčáková, Dana, Liu, Judy, Vanderver, Adeline, Curiel, Julian, Persoon, Claudia M, Diodato, Daria, Pinelli, Lorenzo, van der Meij, Nathalie L, Plecko, Barbara, Blaser, Susan, Wolf, Nicole I, Waisfisz, Quinten, Abbink, Truus E M, van der Knaap, Marjo S
Published in Neurology (24.10.2017)
Published in Neurology (24.10.2017)
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Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1
Guergueltcheva, Velina, Azmanov, Dimitar N., Angelicheva, Dora, Smith, Katherine R., Chamova, Teodora, Florez, Laura, Bynevelt, Michael, Nguyen, Thai, Cherninkova, Sylvia, Bojinova, Veneta, Kaprelyan, Ara, Angelova, Lyudmila, Morar, Bharti, Chandler, David, Kaneva, Radka, Bahlo, Melanie, Tournev, Ivailo, Kalaydjieva, Luba
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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Longevity Klotho gene polymorphism and the risk of dementia in older men
Almeida, Osvaldo P, Morar, Bharti, Hankey, Graeme J, Yeap, Bu B, Golledge, Jonathan, Jablensky, Assen, Flicker, Leon
Published in Maturitas (01.07.2017)
Published in Maturitas (01.07.2017)
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A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Cabrera-Serrano, Macarena, Mavillard, Fabiola, Biancalana, Valerie, Rivas, Eloy, Morar, Bharti, Hernández-Laín, Aurelio, Olive, Montse, Muelas, Nuria, Khan, Eduardo, Carvajal, Alejandra, Quiroga, Pablo, Diaz-Manera, Jordi, Davis, Mark, Ávila, Rainiero, Domínguez, Cristina, Romero, Norma Beatriz, Vílchez, Juan J, Comas, David, Laing, Nigel G, Laporte, Jocelyn, Kalaydjieva, Luba, Paradas, Carmen
Published in Neurology (24.07.2018)
Published in Neurology (24.07.2018)
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A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant
Lake, Nicole J., Formosa, Luke E., Stroud, David A., Ryan, Michael T., Calvo, Sarah E., Mootha, Vamsi K., Morar, Bharti, Procopis, Peter G, Christodoulou, John, Compton, Alison G., Thorburn, David R.
Published in Human mutation (01.07.2019)
Published in Human mutation (01.07.2019)
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Exome array analysis suggests an increased variant burden in families with schizophrenia
McCarthy, Nina S, Melton, Phillip E, Ward, Sarah V, Allan, Spencer M, Dragovic, Milan, Clark, Melanie L, Morar, Bharti, Rubio, Justin P, Blangero, John, Badcock, Johanna C, Morgan, Vera A, Moses, Eric K, Jablensky, Assen
Published in Schizophrenia research (01.07.2017)
Published in Schizophrenia research (01.07.2017)
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The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time
Zhivotovsky, Lev A., Underhill, Peter A., Cinnioğlu, Cengiz, Kayser, Manfred, Morar, Bharti, Kivisild, Toomas, Scozzari, Rosaria, Cruciani, Fulvio, Destro-Bisol, Giovanni, Spedini, Gabriella, Chambers, Geoffrey K., Herrera, Rene J., Yong, Kiau Kiun, Gresham, David, Tournev, Ivailo, Feldman, Marcus W., Kalaydjieva, Luba
Published in American journal of human genetics (01.01.2004)
Published in American journal of human genetics (01.01.2004)
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Mutation History of the Roma/Gypsies
Morar, Bharti, Gresham, David, Angelicheva, Dora, Tournev, Ivailo, Gooding, Rebecca, Guergueltcheva, Velina, Schmidt, Carolin, Abicht, Angela, Lochmüller, Hanns, Tordai, Attila, Kalmár, Lajos, Nagy, Melinda, Karcagi, Veronika, Jeanpierre, Marc, Herczegfalvi, Agnes, Beeson, David, Venkataraman, Viswanathan, Warwick Carter, Kim, Reeve, Jeff, de Pablo, Rosario, Kučinskas, Vaidutis, Kalaydjieva, Luba
Published in American journal of human genetics (01.10.2004)
Published in American journal of human genetics (01.10.2004)
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Founder p.Arg 446 mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children
Ivanov, Ivan S., Azmanov, Dimitar N., Ivanova, Mariya B., Chamova, Teodora, Pacheva, Ilyana H., Panova, Margarita V., Song, Sharon, Morar, Bharti, Yordanova, Ralitsa V., Galabova, Fani K., Sotkova, Iglika G., Linev, Alexandar J., Bitchev, Stoyan, Shearwood, Anne-Marie J., Kancheva, Dalia, Gabrikova, Dana, Karcagi, Veronika, Guergueltcheva, Velina, Geneva, Ina E., Bozhinova, Veneta, Stoyanova, Vili K., Kremensky, Ivo, Jordanova, Albena, Savov, Aleksey, Horvath, Rita, Brown, Matthew A., Tournev, Ivailo, Filipovska, Aleksandra, Kalaydjieva, Luba
Published in Molecular genetics and metabolism (01.09.2014)
Published in Molecular genetics and metabolism (01.09.2014)
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