Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring von Prasoona, Kattekola R, Sunitha, Tella, Srinadh, Buragadda, Deepika, Madireddy L N, Kumari, Tiruvatturu M, Jyothy, Akka

Volltext

Genetic associations with brain cortical thickness in multiple sclerosis von Matsushita, T., Madireddy, L., Sprenger, T., Khankhanian, P., Magon, S., Naegelin, Y., Caverzasi, E., Lindberg, R. L. P., Kappos, L., Hauser, S. L., Oksenberg, J. R., Henry, R., Pelletier, D., Baranzini, S. E.

Volltext

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 von Slavotinek, Anne M, Baranzini, Sergio E, Schanze, Denny, Labelle-Dumais, Cassandre, Short, Kieran M, Chao, Ryan, Yahyavi, Mani, Bijlsma, Emilia K, Chu, Catherine, Musone, Stacey, Wheatley, Ashleigh, Kwok, Pui-Yan, Marles, Sandra, Fryns, Jean-Pierre, Maga, A Murat, Hassan, Mohamed G, Gould, Douglas B, Madireddy, Lohith, Li, Chumei, Cox, Timothy C, Smyth, Ian, Chudley, Albert E, Zenker, Martin

Volltext

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects von Slavotinek, A.M., Garcia, S.T., Chandratillake, G., Bardakjian, T., Ullah, E., Wu, D., Umeda, K., Lao, R., Tang, P.L.-F., Wan, E., Madireddy, L., Lyalina, S., Mendelsohn, B.A., Dugan, S., Tirch, J., Tischler, R., Harris, J., Clark, M.J., Chervitz, S., Patwardhan, A., West, J.M., Ursell, P., de Alba Campomanes, A., Schneider, A., Kwok, P.-y., Baranzini, S., Chen, R.O.

Volltext

Paternal transmission of MTHFD 1 G1958A variant predisposes to neural tube defects in the offspring von Prasoona, Kattekola R, Sunitha, Tella, Srinadh, Buragadda, Deepika, Madireddy L N, Kumari, Tiruvatturu M, Jyothy, Akka

Volltext

Meta-analysis of genome-wide association studies reveals genetic overlap between Hodgkin lymphoma and multiple sclerosis von Khankhanian, Pouya, Cozen, Wendy, Himmelstein, Daniel S, Madireddy, Lohith, Din, Lennox, van den Berg, Anke, Matsushita, Takuya, Glaser, Sally L, Moré, Jayaji M, Smedby, Karin E, Baranzini, Sergio E, Mack, Thomas M, Lizée, Antoine, de Sanjosé, Silvia, Gourraud, Pierre-Antoine, Nieters, Alexandra, Hauser, Stephen L, Cocco, Pierluigi, Maynadié, Marc, Foretová, Lenka, Staines, Anthony, Delahaye-Sourdeix, Manon, Li, Dalin, Bhatia, Smita, Melbye, Mads, Onel, Kenan, Jarrett, Ruth, McKay, James D, Oksenberg, Jorge R, Hjalgrim, Henrik

Volltext

A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis (vol 10, 2236, 2019) von Madireddy, L, Patsopoulos, NA, Cotsapas, C, Bos, SD, Beecham, A, McCauley, J, Kim, K, Jia, X, Santaniello, A, Caillier, SJ

Volltext

A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis von Madireddy, L, Patsopoulos, NA, Cotsapas, C, Bos, Steffan Daniel, Beecham, Ashley, McCauley, J, Kim, K, Jia, X, Santaniello, A, Caillier, SJ, Andlauer, TFM, Barcellos, Lisa, Berge, Tone, Bernardinelli, L, Martinelli-Boneschi, F, Booth, D, Briggs, Farren, Celius, Elisabeth Gulowsen, Comabella, M, Comi, G, Cree, BAC, D'Alfonso, S, Dedham, K, Duquette, P., Dardiotis, E, Esposito, F, Gasperi, Christiane, Goris, A, Dubois, B, Gourraud, PA, Hadjigeorgiou, GM, Haines, J, Hawkins, C, Hemmer, B, Hintzen, R, Horakova, D, Isobe, N, Kalra, S, Kira, Jun-ichi, Khalil, M, Kockum, I, Lill, CM, Lincoln, Michelle, Luessi, F, Martin, R, Oturai, A, Palotie, A, Pericak-Vance, MA, Henry, R, Saarela, J, Ivinson, Adrian, Olsson, Thomas, Taylor, Bruce, Stewart, GJ, Harbo, Hanne Flinstad, Compston, A, Hauser, SL, Hafler, DA, Zipp, F, De Jager, P, Sawcer, S, Oksenberg, JR, Baranzini, SE

Volltext

A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility von Damotte, V, Guillot-Noel, L, Patsopoulos, N A, Madireddy, L, El Behi, M, De Jager, P L, Baranzini, S E, Cournu-Rebeix, I, Fontaine, B, Martin, R

Volltext

Association of Targeted Blood Biomarkers with Interferon Beta-1a Treatment Administration, Magnetic Resonance Imaging Activity, and Treatment Response (P02.089) von Cree, B., Madireddy, L., De Stefano, N., Caillier, S., Stromillo, M. L., Battaglini, M., Monet, E., Cromer, A., D'Antonio, M., Farmer, P., Lehr, L., Beelke, M., Baranzini, S.

Volltext

A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis von Madireddy, L, Patsopoulos, NA, Cotsapas, C, Bos, Steffan Daniel, Beecham, Ashley, McCauley, J, Kim, K, Jia, X, Santaniello, A, Caillier, SJ, Andlauer, TFM, Barcellos, Lisa, Berge, Tone, Bernardinelli, L, Martinelli-Boneschi, F, Booth, D, Briggs, Farren, Celius, Elisabeth Gulowsen, Comabella, M, Comi, G, Cree, BAC, D'Alfonso, S, Dedham, K, Duquette, P, Dardiotis, E, Esposito, F, Gasperi, Christiane, Goris, A, Dubois, B, Gourraud, PA, Hadjigeorgiou, GM, Haines, J, Hawkins, C, Hemmer, B, Hintzen, R, Horakova, D, Isobe, N, Kalra, S, Kira, Jun-ichi, Khalil, M, Kockum, I, Lill, CM, Lincoln, Michelle, Luessi, F, Martin, R, Oturai, A, Palotie, A, Pericak-Vance, MA, Henry, R, Saarela, J, Ivinson, Adrian, Olsson, Thomas, Taylor, Bruce, Stewart, GJ, Harbo, Hanne Flinstad, Compston, A, Hauser, SL, Hafler, DA, Zipp, F, De Jager, P, Sawcer, S, Oksenberg, JR, Baranzini, SE

Volltext bestellen

Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia von E. Ullah, D. Wu, L. Madireddy, R. Lao, P. Ling-Fung Tang, E. Wan, T. Bardakjian, S. Kopinsky, P.-Y. Kwok, A. Schneider, S. Baranzini, M. Ansar, A. Slavotinek

Volltext bestellen

COVID-19-Associated Kidney Injury: A Case Series of Kidney Biopsy Findings von Sharma, Purva, Uppal, Nupur N., Wanchoo, Rimda, Shah, Hitesh H., Yang, Yihe, Parikh, Rushang, Khanin, Yuriy, Madireddy, Varun, Larsen, Christopher P., Jhaveri, Kenar D., Bijol, Vanesa

Volltext

BRCA2 associates with MCM10 to suppress PRIMPOL-mediated repriming and single-stranded gap formation after DNA damage von Kang, Zhihua, Fu, Pan, Alcivar, Allen L., Fu, Haiqing, Redon, Christophe, Foo, Tzeh Keong, Zuo, Yamei, Ye, Caiyong, Baxley, Ryan, Madireddy, Advaitha, Buisson, Remi, Bielinsky, Anja-Katrin, Zou, Lee, Shen, Zhiyuan, Aladjem, Mirit I., Xia, Bing

Volltext

FANCM, BRCA1, and BLM cooperatively resolve the replication stress at the ALT telomeres von Pan, Xiaolei, Drosopoulos, William C., Sethi, Louisa, Madireddy, Advaitha, Schildkraut, Carl L., Zhang, Dong

Volltext

Translesion polymerase eta both facilitates DNA replication and promotes increased human genetic variation at common fragile sites von Twayana, Shyam, Bacolla, Albino, Barreto-Galvez, Angelica, De-Paula, Ruth B., Drosopoulos, William C., Kosiyatrakul, Settapong T., Bouhassira, Eric E., Tainer, John A., Madiredd, Advaitha, Schildkraut, Carl L.

Volltext

Acute kidney injury in patients hospitalized with COVID-19 von Hirsch, Jamie S., Ng, Jia H., Ross, Daniel W., Sharma, Purva, Shah, Hitesh H., Barnett, Richard L., Hazzan, Azzour D., Fishbane, Steven, Jhaveri, Kenar D., Abate, Mersema, Andrade, Hugo Paz, Barnett, Richard L., Bellucci, Alessandro, Bhaskaran, Madhu C., Corona, Antonio G., Chang, Bessy Flores, Finger, Mark, Fishbane, Steven, Gitman, Michael, Halinski, Candice, Hasan, Shamir, Hazzan, Azzour D., Hirsch, Jamie S., Hong, Susana, Jhaveri, Kenar D., Khanin, Yuriy, Kuan, Aireen, Madireddy, Varun, Malieckal, Deepa, Muzib, Abdulrahman, Nair, Gayatri, Nair, Vinay V., Ng, Jia H., Parikh, Rushang, Ross, Daniel W., Sakhiya, Vipulbhai, Sachdeva, Mala, Schwarz, Richard, Shah, Hitesh H., Sharma, Purva, Singhal, Pravin C., Uppal, Nupur N., Wanchoo, Rimda, Bessy Suyin Flores Chang, Ng, Jia Hwei

Volltext

G-quadruplex-interacting compounds alter latent DNA replication and episomal persistence of KSHV von Madireddy, Advaitha, Purushothaman, Pravinkumar, Loosbroock, Christopher P, Robertson, Erle S, Schildkraut, Carl L, Verma, Subhash C

Volltext

Augmenting machine learning of Grad–Shafranov equilibrium reconstruction with Green's functions von McClenaghan, J., Akçay, C., Amara, T. B., Sun, X., Madireddy, S., Lao, L. L., Kruger, S. E., Meneghini, O. M.

Volltext

EFIT-Prime: Probabilistic and physics-constrained reduced-order neural network model for equilibrium reconstruction in DIII-D von Madireddy, S., Akçay, C., Kruger, S. E., Amara, T. Bechtel, Sun, X., McClenaghan, J., Koo, J., Samaddar, A., Liu, Y., Balaprakash, P., Lao, L. L.

Volltext