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9 results on '"Krylova, Tatiana D"'

1. Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Author

Yépez, Vicente A., Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H., Alston, Charlotte L., Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J., Hempel, Maja, Itkis, Yulia S., Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D., Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F., Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L., Strom, Tim M., Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A., Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W., Wortmann, Saskia B., Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, and Prokisch, Holger

Published
2022
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2. Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Author

Yépez, Vicente A, Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H, Alston, Charlotte L, Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J, Hempel, Maja, Itkis, Yulia S, Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D, Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F, Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, et al, and University of Zurich

Subjects
2716 Genetics (clinical), 1311 Genetics, 10036 Medical Clinic, 1313 Molecular Medicine, 1312 Molecular Biology, 610 Medicine & health
Published
2022
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3. Additional file 2 of Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Author

Yépez, Vicente A., Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H., Alston, Charlotte L., Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J., Hempel, Maja, Itkis, Yulia S., Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D., Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F., Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L., Strom, Tim M., Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A., Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W., Wortmann, Saskia B., Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, and Prokisch, Holger

Subjects
parasitic diseases, population characteristics, geographic locations, health care economics and organizations
Abstract

Additional file 2: Fig. S1. Overview of the study. Fig. S2. Quality control. Fig. S3. DNA-RNA sample matching. Fig. S4. Aberrant events per sample. Fig. S5. Rare variants among expression outliers. Fig. S6. Power analysis of overexpression outliers. Fig. S7. Power analysis of underexpression outliers with respect to biological coefficient of variation. Fig. S8. Cases with many mtDNA expression outliers. Fig. S9. Rare variants among splicing outliers. Fig. S10. Splicing prediction algorithms evaluation. Fig. S11. Complex pattern of aberrant splicing. Fig. S12. Analysis of variants called by RNA-seq. Fig. S13. Rare variants leading to outliers. Fig. S14. Diagnostic rate across cohorts.

Published
2022
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4. Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Author

Yépez, Vicente A., primary, Gusic, Mirjana, additional, Kopajtich, Robert, additional, Mertes, Christian, additional, Smith, Nicholas H., additional, Alston, Charlotte L., additional, Ban, Rui, additional, Beblo, Skadi, additional, Berutti, Riccardo, additional, Blessing, Holger, additional, Ciara, Elżbieta, additional, Distelmaier, Felix, additional, Freisinger, Peter, additional, Häberle, Johannes, additional, Hayflick, Susan J., additional, Hempel, Maja, additional, Itkis, Yulia S., additional, Kishita, Yoshihito, additional, Klopstock, Thomas, additional, Krylova, Tatiana D., additional, Lamperti, Costanza, additional, Lenz, Dominic, additional, Makowski, Christine C., additional, Mosegaard, Signe, additional, Müller, Michaela F., additional, Muñoz-Pujol, Gerard, additional, Nadel, Agnieszka, additional, Ohtake, Akira, additional, Okazaki, Yasushi, additional, Procopio, Elena, additional, Schwarzmayr, Thomas, additional, Smet, Joél, additional, Staufner, Christian, additional, Stenton, Sarah L., additional, Strom, Tim M., additional, Terrile, Caterina, additional, Tort, Frederic, additional, Van Coster, Rudy, additional, Vanlander, Arnaud, additional, Wagner, Matias, additional, Xu, Manting, additional, Fang, Fang, additional, Ghezzi, Daniele, additional, Mayr, Johannes A., additional, Piekutowska-Abramczuk, Dorota, additional, Ribes, Antonia, additional, Rötig, Agnès, additional, Taylor, Robert W., additional, Wortmann, Saskia B., additional, Murayama, Kei, additional, Meitinger, Thomas, additional, Gagneur, Julien, additional, and Prokisch, Holger, additional

Published
2021
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5. Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Author

Stenton, Sarah L., primary, Sheremet, Natalia L., additional, Catarino, Claudia B., additional, Andreeva, Natalia A., additional, Assouline, Zahra, additional, Barboni, Piero, additional, Barel, Ortal, additional, Berutti, Riccardo, additional, Bychkov, Igor, additional, Caporali, Leonardo, additional, Capristo, Mariantonietta, additional, Carbonelli, Michele, additional, Cascavilla, Maria L., additional, Charbel Issa, Peter, additional, Freisinger, Peter, additional, Gerber, Sylvie, additional, Ghezzi, Daniele, additional, Graf, Elisabeth, additional, Heidler, Juliana, additional, Hempel, Maja, additional, Heon, Elise, additional, Itkis, Yulya S., additional, Javasky, Elisheva, additional, Kaplan, Josseline, additional, Kopajtich, Robert, additional, Kornblum, Cornelia, additional, Kovacs-Nagy, Reka, additional, Krylova, Tatiana D., additional, Kunz, Wolfram S., additional, La Morgia, Chiara, additional, Lamperti, Costanza, additional, Ludwig, Christina, additional, Malacarne, Pedro F., additional, Maresca, Alessandra, additional, Mayr, Johannes A., additional, Meisterknecht, Jana, additional, Nevinitsyna, Tatiana A., additional, Palombo, Flavia, additional, Pode-Shakked, Ben, additional, Shmelkova, Maria S., additional, Strom, Tim M., additional, Tagliavini, Francesca, additional, Tzadok, Michal, additional, van der Ven, Amelie T., additional, Vignal-Clermont, Catherine, additional, Wagner, Matias, additional, Zakharova, Ekaterina Y., additional, Zhorzholadze, Nino V., additional, Rozet, Jean-Michel, additional, Carelli, Valerio, additional, Tsygankova, Polina G., additional, Klopstock, Thomas, additional, Wittig, Ilka, additional, and Prokisch, Holger, additional

Published
2021
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6. Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy

Author

Krylova, Tatiana D., primary, Sheremet, Natalia L., additional, Tabakov, Vyacheslav Yu., additional, Lyamzaev, Konstantin G., additional, Itkis, Yulia S., additional, Tsygankova, Polina G., additional, Andreeva, Natalia A., additional, Shmelkova, Maria S., additional, Nevinitsyna, Tatiana A., additional, Kadyshev, Vitaly V., additional, and Zakharova, Ekaterina Yu., additional

Published
2020
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7. Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders

Author

Tsygankova, Polina G., primary, Itkis, Yulia S., additional, Krylova, Tatiana D., additional, Kurkina, Marina V., additional, Bychkov, Igor O., additional, Ilyushkina, Aleksandra A., additional, Zabnenkova, Viktoria V., additional, Mikhaylova, Svetlana V., additional, Pechatnikova, Natalia L., additional, Sheremet, Natalia L., additional, and Zakharova, Ekaterina Y., additional

Published
2019
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