Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia.

Authors: Sertori, Robert, Truong, Billy, Singh, Manoj K., Shinton, Susan, Price, Rachael, Sharo, Andrew, Shultes, Paulameena, Sunderam, Uma, Rana, Sadhna, Srinivasan, Rajgopal, Datta, Sutapa, Font-Burgada, Joan, Brenner, Steven E., Puck, Jennifer M., Wiest, David L.

Source: Frontiers in Immunology; 2025, p1-16, 16p

Subject Terms: GENE expression, HEMATOPOIETIC stem cells, DNA replication, T cells, MISSENSE mutation

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

Authors: Kasak, Laura, Hunter, Jesse M., Udani, Rupa, Bakolitsa, Constantina, Hu, Zhiqiang, Adhikari, Aashish N., Babbi, Giulia, Casadio, Rita, Gough, Julian, Guerrero, Rafael F., Jiang, Yuxiang, Joseph, Thomas, Katsonis, Panagiotis, Kotte, Sujatha, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier Luigi, Mooney, Sean D., Moult, John, Pal, Lipika R., Poitras, Jennifer, Radivojac, Predrag, Rao, Aditya, Sivadasan, Naveen, Sunderam, Uma, Saipradeep, V. G., Yin, Yizhou, Zaucha, Jan, Brenner, Steven E., Meyn, M. Stephen

Source: Human mutation. 40(9):1373-1391

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088915291.0x000001&indx=1&recIds=ETOCvdc_100088915291.0x000001

A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70

Authors: Chan, Alice Y., Punwani, Divya, Kadlecek, Theresa A., Cowan, Morton J., Olson, Jean L., Mathes, Erin F., Sunderam, Uma, Fu, Shu Man, Srinivasan, Rajgopal, Kuriyan, John

Source: Journal of experimental medicine. 213(2):155-166

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN605321135&indx=1&recIds=ETOCRN605321135

Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency.

Authors: Sertori, Robert, Jian-Xin Lin, Martinez, Esteban, Rana, Sadhna, Sharo, Andrew, Kazemian, Majid, Sunderam, Uma, Andrake, Mark, Shinton, Susan, Truong, Billy, Dunbrack, Roland M., Chengyu Liu, Srinivasan, Rajgopol, Brenner, Steven E., Seroogy, Christine M., Puck, Jennifer M., Leonard, Warren J., Wiest, David L.

Source: Frontiers in Immunology; 7/29/2022, Vol. 13, p1-15, 15p

Subject Terms: SEVERE combined immunodeficiency, RECESSIVE genes, T cell receptors, CELL adhesion molecules, BONE marrow transplantation, T cells, HEMATOPOIETIC stem cells

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Authors: Stenton, Sarah L., O’Leary, Melanie C., Lemire, Gabrielle, VanNoy, Grace E., DiTroia, Stephanie, Ganesh, Vijay S., Groopman, Emily, O’Heir, Emily, Mangilog, Brian, Osei-Owusu, Ikeoluwa, Pais, Lynn S., Serrano, Jillian, Singer-Berk, Moriel, Weisburd, Ben, Wilson, Michael W., Austin-Tse, Christina, Abdelhakim, Marwa, Althagafi, Azza, Babbi, Giulia, Bellazzi, Riccardo, Bovo, Samuele, Carta, Maria Giulia, Casadio, Rita, Coenen, Pieter-Jan, De Paoli, Federica, Floris, Matteo, Gajapathy, Manavalan, Hoehndorf, Robert, Jacobsen, Julius O. B., Joseph, Thomas, Kamandula, Akash, Katsonis, Panagiotis, Kint, Cyrielle, Lichtarge, Olivier, Limongelli, Ivan, Lu, Yulan, Magni, Paolo, Mamidi, Tarun Karthik Kumar, Martelli, Pier Luigi, Mulargia, Marta, Nicora, Giovanna, Nykamp, Keith, Pejaver, Vikas, Peng, Yisu, Pham, Thi Hong Cam, Podda, Maurizio S., Rao, Aditya, Rizzo, Ettore, Saipradeep, Vangala G., Savojardo, Castrense, Schols, Peter, Shen, Yang, Sivadasan, Naveen, Smedley, Damian, Soru, Dorian, Srinivasan, Rajgopal, Sun, Yuanfei, Sunderam, Uma, Tan, Wuwei, Tiwari, Naina, Wang, Xiao, Wang, Yaqiong, Williams, Amanda, Worthey, Elizabeth A., Yin, Rujie, You, Yuning, Zeiberg, Daniel, Zucca, Susanna, Bakolitsa, Constantina, Brenner, Steven E., Fullerton, Stephanie M., Radivojac, Predrag, Rehm, Heidi L., O’Donnell-Luria, Anne

Source: Human Genomics; December 2024, Vol. 18 Issue: 1

The role of exome sequencing in newborn screening for inborn errors of metabolism

Authors: Adhikari, Aashish N., Gallagher, Renata C., Wang, Yaqiong, Currier, Robert J., Amatuni, George, Bassaganyas, Laia, Chen, Flavia, Kundu, Kunal, Kvale, Mark, Mooney, Sean D., Nussbaum, Robert L., Randi, Savanna S., Sanford, Jeremy, Shieh, Joseph T., Srinivasan, Rajgopal, Sunderam, Uma, Tang, Hao, Vaka, Dedeepya, Zou, Yangyun, Koenig, Barbara A., Kwok, Pui-Yan, Risch, Neil, Puck, Jennifer M., Brenner, Steven E.

Source: Nature Medicine; September 2020, Vol. 26 Issue: 9 p1392-1397, 6p

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Nijmegen Breakage Syndrome Detected By Newborn Screening for T Cell Receptor Excision Circles (TRECs)

Authors: Patel, Jay, Puck, Jennifer M., Kundu, Kunal, Sunderam, Uma, Brown, Christina, Srinivasan, Rajgopal, Brenner, Steven E., Gatti, Richard A., Church, Joseph A.

Source: In The Journal of Allergy and Clinical Immunology February 2015 135(2) Supplement:AB14-AB14

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