Integrity of genome-wide genotype data from low passage lymphoblastoid cell lines

per McCarthy, Nina S., Allan, Spencer M., Chandler, David, Jablensky, Assen, Morar, Bharti
Publicat a Genom Data (2016)

The AQP1 del601G mutation in different European Romani (Gypsy) populations

per Flesch, Brigitte K., Morar, Bharti, Comas, David, Muñiz-Diaz, Eduardo, Nogués, Núria, Kalaydjieva, Luba
Publicat a Blood Transfus (2016)

Deleterious GRM1 Mutations in Schizophrenia

per 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
Publicat 2012

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: distinguishing a dual diagnosis from a hypomorphic protein-truncating variant

per 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.
Publicat a Hum Mutat (2019)

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

per 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
Publicat 2012

Origins and Divergence of the Roma (Gypsies)

per Gresham, David, Morar, Bharti, Underhill, Peter A., Passarino, Giuseppe, Lin, Alice A., Wise, Cheryl, Angelicheva, Dora, Calafell, Francesc, Oefner, Peter J., Shen, Peidong, Tournev, Ivailo, de Pablo, Rosario, Kuĉinskas, Vaidutis, Perez-Lezaun, Anna, Marushiakova, Elena, Popov, Vesselin, Kalaydjieva, Luba
Publicat 2001

The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time

per 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
Publicat 2004

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

per 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
Publicat 2014

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

per 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
Publicat 2014

Mutation History of the Roma/Gypsies

per 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
Publicat 2004

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

per 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.
Publicat a Neurology (2017)

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

per Azmanov, Dimitar N, Dimitrova, Stanislava, Florez, Laura, Cherninkova, Sylvia, Draganov, Dragomir, Morar, Bharti, Saat, Rosmawati, Juan, Manel, Arostegui, Juan I, Ganguly, Sriparna, Soodyall, Himla, Chakrabarti, Subhabrata, Padh, Harish, López-Nevot, Miguel A, Chernodrinska, Violeta, Anguelov, Botio, Majumder, Partha, Angelova, Lyudmila, Kaneva, Radka, Mackey, David A, Tournev, Ivailo, Kalaydjieva, Luba
Publicat 2011

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

per 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
Publicat a Neurology (2018)