Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing

por Palma, Jose-Alberto, Yadav, Rachita, Gao, Dadi, Norcliffe-Kaufmann, Lucy, Slaugenhaupt, Susan, Kaufmann, Horacio
Publicado 2021

Global gene expression profiling of brown to white adipose tissue transformation in sheep reveals novel transcriptional components linked to adipose remodeling

por Basse, Astrid L, Dixen, Karen, Yadav, Rachita, Tygesen, Malin P, Qvortrup, Klaus, Kristiansen, Karsten, Quistorff, Bjørn, Gupta, Ramneek, Wang, Jun, Hansen, Jacob B
Publicado 2015

Physiological Characterization and Transcriptomic Properties of GnRH Neurons Derived From Human Stem Cells

por Keen, Kim L, Petersen, Andrew J, Figueroa, Alexander G, Fordyce, Benjamin I, Shin, Jaeweon, Yadav, Rachita, Erdin, Serkan, Pearce, Robert A, Talkowski, Michael E, Bhattacharyya, Anita, Terasawa, Ei
Publicado 2021

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin

por Domingo, Aloysius, Yadav, Rachita, Shah, Shivangi, Hendriks, William T., Erdin, Serkan, Gao, Dadi, O’Keefe, Kathryn, Currall, Benjamin, Gusella, James F., Sharma, Nutan, Ozelius, Laurie J., Ehrlich, Michelle E., Talkowski, Michael E., Bragg, D. Cristopher
Publicado 2021

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1

por Bragg, D. Cristopher, Mangkalaphiban, Kotchaphorn, Vaine, Christine A., Kulkarni, Nichita J., Shin, David, Yadav, Rachita, Dhakal, Jyotsna, Ton, Mai-Linh, Cheng, Anne, Russo, Christopher T., Ang, Mark, Acuña, Patrick, Go, Criscely, Franceour, Taylor N., Multhaupt-Buell, Trisha, Ito, Naoto, Müller, Ulrich, Hendriks, William T., Breakefield, Xandra O., Sharma, Nutan, Ozelius, Laurie J.
Publicado 2017

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

por Weiner, Daniel J., Ling, Emi, Erdin, Serkan, Tai, Derek J. C., Yadav, Rachita, Grove, Jakob, Fu, Jack M., Nadig, Ajay, Carey, Caitlin E., Baya, Nikolas, Bybjerg-Grauholm, Jonas, Berretta, Sabina, Macosko, Evan Z., Sebat, Jonathan, O’Connor, Luke J., Hougaard, David M., Børglum, Anders D., Talkowski, Michael E., McCarroll, Steven A., Robinson, Elise B.
Publicado 2022

Trypsin-encoding PRSS1-PRSS2 variations influence the risk of asparaginase-associated pancreatitis in children with acute lymphoblastic leukemia: a Ponte di Legno toxicity working...

por Wolthers, Benjamin O., Frandsen, Thomas L., Patel, Chirag J., Abaji, Rachid, Attarbaschi, Andishe, Barzilai, Shlomit, Colombini, Antonella, Escherich, Gabriele, Grosjean, Marie, Krajinovic, Maja, Larsen, Eric, Liang, Der-Cherng, Möricke, Anja, Rasmussen, Kirsten K., Samarasinghe, Sujith, Silverman, Lewis B., van der Sluis, Inge M., Stanulla, Martin, Tulstrup, Morten, Yadav, Rachita, Yang, Wenjian, Zapotocka, Ester, Gupta, Ramneek, Schmiegelow, Kjeld
Publicado 2019

Can Machine Learning Models Predict Asparaginase-associated Pancreatitis in Childhood Acute Lymphoblastic Leukemia

por Nielsen, Rikke L., Wolthers, Benjamin O., Helenius, Marianne, Albertsen, Birgitte K., Clemmensen, Line, Nielsen, Kasper, Kanerva, Jukka, Niinimäki, Riitta, Frandsen, Thomas L., Attarbaschi, Andishe, Barzilai, Shlomit, Colombini, Antonella, Escherich, Gabriele, Aytan-Aktug, Derya, Liu, Hsi-Che, Möricke, Anja, Samarasinghe, Sujith, van der Sluis, Inge M., Stanulla, Martin, Tulstrup, Morten, Yadav, Rachita, Zapotocka, Ester, Schmiegelow, Kjeld, Gupta, Ramneek
Publicado 2022

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

por Campion, Lindsey N., Meijia Maza, Alan, Yadav, Rachita, Penney, Ellen B., Murcar, Micaela G., Correia, Kevin, Gillis, Tammy, Fernandez-Cerado, Cara, Velasco-Andrada, M. Salvie, Legarda, G. Paul, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Acuña, Patrick J., Multhaupt-Buell, Trisha, Aldykiewicz, Gabrielle, Supnet, Melanie L., De Guzman, Jan K., Go, Criscely, Sharma, Nutan, Munoz, Edwin L., Ang, Mark C., Diesta, Cid Czarina E., Bragg, D. Cristopher, Ozelius, Laurie J., Wheeler, Vanessa C.
Publicado 2022

Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

por Campion, Lindsey N., Mejia Maza, Alan, Yadav, Rachita, Penney, Ellen B., Murcar, Micaela G., Correia, Kevin, Gillis, Tammy, Fernandez-Cerado, Cara, Velasco-Andrada, M. Salvie, Legarda, G. Paul, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Acuña, Patrick J., Multhaupt-Buell, Trisha, Aldykiewicz, Gabrielle, Supnet, Melanie L., De Guzman, Jan K., Go, Criscely, Sharma, Nutan, Munoz, Edwin L., Ang, Mark C., Diesta, Cid Czarina E., Bragg, D. Cristopher, Ozelius, Laurie J., Wheeler, Vanessa C.
Publicado 2022

Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children

por Xu, Heng, Zhang, Hui, Yang, Wenjian, Yadav, Rachita, Morrison, Alanna C., Qian, Maoxiang, Devidas, Meenakshi, Liu, Yu, Perez-Andreu, Virginia, Zhao, Xujie, Gastier-Foster, Julie M., Lupo, Philip J., Neale, Geoff, Raetz, Elizabeth, Larsen, Eric, Bowman, W. Paul, Carroll, William L., Winick, Naomi, Williams, Richard, Hansen, Torben, Holm, Jens-Christian, Mardis, Elaine, Fulton, Robert, Pui, Ching-Hon, Zhang, Jinghui, Mullighan, Charles G., Evans, William E., Hunger, Stephen P., Gupta, Ramneek, Schmiegelow, Kjeld, Loh, Mignon L., Relling, Mary V., Yang, Jun J.
Publicado 2015

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

por Besenbacher, Søren, Liu, Siyang, Izarzugaza, José M. G., Grove, Jakob, Belling, Kirstine, Bork-Jensen, Jette, Huang, Shujia, Als, Thomas D., Li, Shengting, Yadav, Rachita, Rubio-García, Arcadio, Lescai, Francesco, Demontis, Ditte, Rao, Junhua, Ye, Weijian, Mailund, Thomas, Friborg, Rune M., Pedersen, Christian N. S., Xu, Ruiqi, Sun, Jihua, Liu, Hao, Wang, Ou, Cheng, Xiaofang, Flores, David, Rydza, Emil, Rapacki, Kristoffer, Damm Sørensen, John, Chmura, Piotr, Westergaard, David, Dworzynski, Piotr, Sørensen, Thorkild I. A., Lund, Ole, Hansen, Torben, Xu, Xun, Li, Ning, Bolund, Lars, Pedersen, Oluf, Eiberg, Hans, Krogh, Anders, Børglum, Anders D., Brunak, Søren, Kristiansen, Karsten, Schierup, Mikkel H., Wang, Jun, Gupta, Ramneek, Villesen, Palle, Rasmussen, Simon
Publicado 2015