Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss

nork Maslova, Ekaterina A., Orishchenko, Konstantin E., Posukh, Olga L.
Argitaratua izan da Biomolecules (2021)

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

nork Сhurbanov, Alexander Y., Karafet, Tatiana M., Morozov, Igor V., Mikhalskaia, Valeriia Yu., Zytsar, Marina V., Bondar, Alexander A., Posukh, Olga L.
Argitaratua izan da PLoS One (2016)

High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

nork Zytsar, Marina V., Bady-Khoo, Marita S., Danilchenko, Valeriia Yu., Maslova, Ekaterina A., Barashkov, Nikolay A., Morozov, Igor V., Bondar, Alexander A., Posukh, Olga L.
Argitaratua izan da Genes (Basel) (2020)

Unique Mutational Spectrum of the GJB2 Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp17...

nork Posukh, Olga L., Zytsar, Marina V., Bady-Khoo, Marita S., Danilchenko, Valeria Yu., Maslova, Ekaterina A., Barashkov, Nikolay A., Bondar, Alexander A., Morozov, Igor V., Maximov, Vladimir N., Voevoda, Michael I.
Argitaratua izan da Genes (Basel) (2019)

Association Analysis of Genetic Variants with Type 2 Diabetes in a Mongolian Population in China

nork Bai, Haihua, Liu, Haiping, Suyalatu, Suyalatu, Guo, Xiaosen, Chu, Shandan, Chen, Ying, Lan, Tianming, Borjigin, Burenbatu, Orlov, Yuriy L., Posukh, Olga L., Yang, Xiuqin, Guilan, Guilan, Osipova, Ludmila P., Wu, Qizhu, Narisu, Narisu
Argitaratua izan da J Diabetes Res (2015)

Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

nork Zytsar, Marina V., Barashkov, Nikolay A., Bady-Khoo, Marita S., Shubina-Olejnik, Olga A., Danilenko, Nina G., Bondar, Alexander A., Morozov, Igor V., Solovyev, Aisen V., Danilchenko, Valeriia Yu., Maximov, Vladimir N., Posukh, Olga L.
Argitaratua izan da BMC Med Genet (2018)

A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia

nork Romanov, Georgii P., Pshennikova, Vera G., Lashin, Sergey A., Solovyev, Aisen V., Teryutin, Fedor M., Cherdonova, Aleksandra M., Borisova, Tuyara V., Sazonov, Nikolay N., Khusnutdinova, Elza K., Posukh, Olga L., Fedorova, Sardana A., Barashkov, Nikolay A.
Argitaratua izan da PLoS One (2020)

A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha R...

nork Barashkov, Nikolay A., Romanov, Georgii P., Borisova, Uigulaana P., Solovyev, Aisen V., Pshennikova, Vera G., Teryutin, Fedor M., Bondar, Alexander A., Morozov, Igor V., Khusnutdinova, Elza K., Posukh, Olga L., Burtseva, Tatiana E., Odland, Jon Øyvind, Fedorova, Sardana A.
Argitaratua izan da Int J Circumpolar Health (2019)

Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations

nork Solovyev, Aisen V., Dzhemileva, Lilya U., Posukh, Olga L., Barashkov, Nikolay A., Bady-Khoo, Marita S., Lobov, Semen L., Popova, Natalya Yu., Romanov, Georgii P., Sazonov, Nikolay N., Bondar, Alexander A., Morozov, Igor V., Tomsky, Mikhail I., Fedorova, Sardana A., Khusnutdinova, Elza K.
Argitaratua izan da J Community Genet (2017)

Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

nork Pshennikova, Vera G., Barashkov, Nikolay A., Romanov, Georgii P., Teryutin, Fedor M., Solov'ev, Aisen V., Gotovtsev, Nyurgun N., Nikanorova, Alena A., Nakhodkin, Sergey S., Sazonov, Nikolay N., Morozov, Igor V., Bondar, Alexander A., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Posukh, Olga L., Fedorova, Sardana A.
Argitaratua izan da ScientificWorldJournal (2019)

Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene

nork Barashkov, Nikolay A., Konovalov, Fedor A., Borisova, Tuyara V., Teryutin, Fedor M., Solovyev, Aisen V., Pshennikova, Vera G., Sapojnikova, Nadejda V., Vychuzhina, Lyubov S., Romanov, Georgii P., Gotovtsev, Nyurgun N., Morozov, Igor V., Bondar, Alexander A., Platonov, Fedor A., Burtseva, Tatiana E., Khusnutdinova, Elza K., Posukh, Olga L., Fedorova, Sardana A.
Argitaratua izan da Eur J Hum Genet (2021)

Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia

nork Barashkov, Nikolay A., Teryutin, Fedor M., Pshennikova, Vera G., Solovyev, Aisen V., Klarov, Leonid A., Solovyeva, Natalya A., Kozhevnikov, Andrei A., Vasilyeva, Lena M., Fedotova, Elvira E., Pak, Maria V., Lekhanova, Sargylana N., Zakharova, Elena V., Savvinova, Kyunney E., Gotovtsev, Nyurgun N., Rafailo, Adyum M., Luginov, Nikolay V., Alexeev, Anatoliy N., Posukh, Olga L., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Fedorova, Sardana A.
Argitaratua 2014

Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)

nork Barashkov, Nikolay A., Pshennikova, Vera G., Posukh, Olga L., Teryutin, Fedor M., Solovyev, Aisen V., Klarov, Leonid A., Romanov, Georgii P., Gotovtsev, Nyurgun N., Kozhevnikov, Andrey A., Kirillina, Elena V., Sidorova, Oksana G., Vasilyevа, Lena M., Fedotova, Elvira E., Morozov, Igor V., Bondar, Alexander A., Solovyevа, Natalya A., Kononova, Sardana K., Rafailov, Adyum M., Sazonov, Nikolay N., Alekseev, Anatoliy N., Tomsky, Mikhail I., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Fedorova, Sardana A.
Argitaratua izan da PLoS One (2016)

Global diversity, population stratification, and selection of human copy number variation

nork Sudmant, Peter H., Mallick, Swapan, Nelson, Bradley J., Hormozdiari, Fereydoun, Krumm, Niklas, Huddleston, John, Coe, Bradley P., Baker, Carl, Nordenfelt, Susanne, Bamshad, Michael, Jorde, Lynn B., Posukh, Olga L., Sahakyan, Hovhannes, Watkins, W. Scott, Yepiskoposyan, Levon, Abdullah, M. Syafiq, Bravi, Claudio M., Capelli, Cristian, Hervig, Tor, Wee, Joseph T. S., Tyler-Smith, Chris, van Driem, George, Romero, Irene Gallego, Jha, Aashish R., Karachanak-Yankova, Sena, Toncheva, Draga, Comas, David, Henn, Brenna, Kivisild, Toomas, Ruiz-Linares, Andres, Sajantila, Antti, Metspalu, Ene, Parik, Jüri, Villems, Richard, Starikovskaya, Elena B., Ayodo, George, Beall, Cynthia M., Di Rienzo, Anna, Hammer, Michael, Khusainova, Rita, Khusnutdinova, Elza, Klitz, William, Winkler, Cheryl, Labuda, Damian, Metspalu, Mait, Tishkoff, Sarah A., Dryomov, Stanislav, Sukernik, Rem, Patterson, Nick, Reich, David, Eichler, Evan E.
Argitaratua izan da Science (2015)

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

nork Mallick, Swapan, Li, Heng, Lipson, Mark, Mathieson, Iain, Gymrek, Melissa, Racimo, Fernando, Zhao, Mengyao, Chennagiri, Niru, Nordenfelt, Susanne, Tandon, Arti, Skoglund, Pontus, Lazaridis, Iosif, Sankararaman, Sriram, Fu, Qiaomei, Rohland, Nadin, Renaud, Gabriel, Erlich, Yaniv, Willems, Thomas, Gallo, Carla, Spence, Jeffrey P., Song, Yun S., Poletti, Giovanni, Balloux, Francois, van Driem, George, de Knijff, Peter, Romero, Irene Gallego, Jha, Aashish R., Behar, Doron M., Bravi, Claudio M., Capelli, Cristian, Hervig, Tor, Moreno-Estrada, Andres, Posukh, Olga L., Balanovska, Elena, Balanovsky, Oleg, Karachanak-Yankova, Sena, Sahakyan, Hovhannes, Toncheva, Draga, Yepiskoposyan, Levon, Tyler-Smith, Chris, Xue, Yali, Abdullah, M. Syafiq, Ruiz-Linares, Andres, Beall, Cynthia M., Di Rienzo, Anna, Jeong, Choongwon, Starikovskaya, Elena B., Metspalu, Ene, Parik, Jüri, Villems, Richard, Henn, Brenna M., Hodoglugil, Ugur, Mahley, Robert, Sajantila, Antti, Stamatoyannopoulos, George, Wee, Joseph T. S., Khusainova, Rita, Khusnutdinova, Elza, Litvinov, Sergey, Ayodo, George, Comas, David, Hammer, Michael, Kivisild, Toomas, Klitz, William, Winkler, Cheryl, Labuda, Damian, Bamshad, Michael, Jorde, Lynn B., Tishkoff, Sarah A., Watkins, W. Scott, Metspalu, Mait, Dryomov, Stanislav, Sukernik, Rem, Singh, Lalji, Thangaraj, Kumarasamy, Pääbo, Svante, Kelso, Janet, Patterson, Nick, Reich, David
Argitaratua izan da Nature (2016)

Genomic evidence for the Pleistocene and recent population history of Native Americans

nork Raghavan, Maanasa, Steinrücken, Matthias, Harris, Kelley, Schiffels, Stephan, Rasmussen, Simon, DeGiorgio, Michael, Albrechtsen, Anders, Valdiosera, Cristina, Ávila-Arcos, María C., Malaspinas, Anna-Sapfo, Eriksson, Anders, Moltke, Ida, Metspalu, Mait, Homburger, Julian R., Wall, Jeff, Cornejo, Omar E., Moreno-Mayar, J. Víctor, Korneliussen, Thorfinn S., Pierre, Tracey, Rasmussen, Morten, Campos, Paula F., de Barros Damgaard, Peter, Allentoft, Morten E., Lindo, John, Metspalu, Ene, Rodríguez-Varela, Ricardo, Mansilla, Josefina, Henrickson, Celeste, Seguin-Orlando, Andaine, Malmström, Helena, Stafford, Thomas, Shringarpure, Suyash S., Moreno-Estrada, Andrés, Karmin, Monika, Tambets, Kristiina, Bergström, Anders, Xue, Yali, Warmuth, Vera, Friend, Andrew D., Singarayer, Joy, Valdes, Paul, Balloux, Francois, Leboreiro, Ilán, Vera, Jose Luis, Rangel-Villalobos, Hector, Pettener, Davide, Luiselli, Donata, Davis, Loren G., Heyer, Evelyne, Zollikofer, Christoph P. E., Ponce de León, Marcia S., Smith, Colin I., Grimes, Vaughan, Pike, Kelly-Anne, Deal, Michael, Fuller, Benjamin T., Arriaza, Bernardo, Standen, Vivien, Luz, Maria F., Ricaut, Francois, Guidon, Niede, Osipova, Ludmila, Voevoda, Mikhail I., Posukh, Olga L., Balanovsky, Oleg, Lavryashina, Maria, Bogunov, Yuri, Khusnutdinova, Elza, Gubina, Marina, Balanovska, Elena, Fedorova, Sardana, Litvinov, Sergey, Malyarchuk, Boris, Derenko, Miroslava, Mosher, M. J., Archer, David, Cybulski, Jerome, Petzelt, Barbara, Mitchell, Joycelynn, Worl, Rosita, Norman, Paul J., Parham, Peter, Kemp, Brian M., Kivisild, Toomas, Tyler-Smith, Chris, Sandhu, Manjinder S., Crawford, Michael, Villems, Richard, Smith, David Glenn, Waters, Michael R., Goebel, Ted, Johnson, John R., Malhi, Ripan S., Jakobsson, Mattias, Meltzer, David J., Manica, Andrea, Durbin, Richard, Bustamante, Carlos D., Song, Yun S., Nielsen, Rasmus, Willerslev, Eske
Argitaratua izan da Science (2015)