Xpert Ultra in diagnosing extrapulmonary TB: accuracy and trace calls von Ninan, M. M., Rupali, P., Varghese, G. M., Shalini, E. B., Venkatesh, K., Jesudason, M. R., Rebekah, G., Michael, J. S.

Volltext

Immune profiling of human tumors identifies CD73 as a combinatorial target in glioblastoma von Goswami, Sangeeta, Walle, Thomas, Cornish, Andrew E., Basu, Sreyashi, Anandhan, Swetha, Fernandez, Irina, Vence, Luis, Blando, Jorge, Zhao, Hao, Yadav, Shalini Singh, Ott, Martina, Kong, Ling Y., Heimberger, Amy B., de Groot, John, Sepesi, Boris, Overman, Michael, Kopetz, Scott, Allison, James P., Pe’er, Dana, Sharma, Padmanee

Volltext

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population von Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut

Volltext

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease von Cook, Sarah A, Comrie, William A, Poli, M Cecilia, Similuk, Morgan, Oler, Andrew J, Faruqi, Aiman J, Kuhns, Douglas B, Yang, Sheng, Vargas-Hernández, Alexander, Carisey, Alexandre F, Fournier, Benjamin, Anderson, D Eric, Price, Susan, Smelkinson, Margery, Abou Chahla, Wadih, Forbes, Lisa R, Mace, Emily M, Cao, Tram N, Coban-Akdemir, Zeynep H, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Orange, Jordan S, Cuvelier, Geoffrey D E, Al Hassani, Moza, Al Kaabi, Nawal, Al Yafei, Zain, Jyonouchi, Soma, Raje, Nikita, Caldwell, Jason W, Huang, Yanping, Burkhardt, Janis K, Latour, Sylvain, Chen, Baoyu, ElGhazali, Gehad, Rao, V Koneti, Chinn, Ivan K, Lenardo, Michael J

Volltext

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data von Du, Haowei, Dardas, Zain, Jolly, Angad, Grochowski, Christopher M, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Yesil, Gozde, Elçioglu, Nursel H, Gezdirici, Alper, Marafi, Dana, Pehlivan, Davut, Calame, Daniel G, Carvalho, Claudia M B, Posey, Jennifer E, Gambin, Tomasz, Coban-Akdemir, Zeynep, Lupski, James R

Volltext

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations von Lalani, Seema R., Liu, Pengfei, Rosenfeld, Jill A., Watkin, Levi B., Chiang, Theodore, Leduc, Magalie S., Zhu, Wenmiao, Ding, Yan, Pan, Shujuan, Vetrini, Francesco, Miyake, Christina Y., Shinawi, Marwan, Gambin, Tomasz, Eldomery, Mohammad K., Akdemir, Zeynep Hande Coban, Emrick, Lisa, Wilnai, Yael, Schelley, Susan, Koenig, Mary Kay, Memon, Nada, Farach, Laura S., Coe, Bradley P., Azamian, Mahshid, Hernandez, Patricia, Zapata, Gladys, Jhangiani, Shalini N., Muzny, Donna M., Lotze, Timothy, Clark, Gary, Wilfong, Angus, Northrup, Hope, Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bonnen, Penelope E., Crosson, Jane, Duis, Jessica, Maegawa, Gustavo H.B., Coman, David, Inwood, Anita, McGill, Jim, Boerwinkle, Eric, Graham, Brett, Beaudet, Art, Eng, Christine M., Hanchard, Neil A., Xia, Fan, Orange, Jordan S., Gibbs, Richard A., Lupski, James R., Yang, Yaping

Volltext

Window-of-opportunity clinical trial of pembrolizumab in patients with recurrent glioblastoma reveals predominance of immune-suppressive macrophages von de Groot, John, Penas-Prado, Marta, Alfaro-Munoz, Kristin, Hunter, Kathy, Pei, Be Lian, O’Brien, Barbara, Weathers, Shiao-Pei, Loghin, Monica, Kamiya Matsouka, Carlos, Yung, W K Alfred, Mandel, Jacob, Wu, Jimin, Yuan, Ying, Zhou, Shouhao, Fuller, Gregory N, Huse, Jason, Rao, Ganesh, Weinberg, Jeffrey S, Prabhu, Sujit S, McCutcheon, Ian E, Lang, Frederick F, Ferguson, Sherise D, Sawaya, Raymond, Colen, Rivka, Yadav, Shalini S, Blando, Jorge, Vence, Luis, Allison, James, Sharma, Padmanee, Heimberger, Amy B

Volltext

The sheep genome illuminates biology of the rumen and lipid metabolism von Jiang, Yu, Xie, Min, Chen, Wenbin, Talbot, Richard, Maddox, Jillian F., Faraut, Thomas, Wu, Chunhua, Muzny, Donna M., Li, Yuxiang, Zhang, Wenguang, Stanton, Jo-Ann, Brauning, Rudiger, Barris, Wesley C., Hourlier, Thibaut, Aken, Bronwen L., Searle, Stephen M. J., Adelson, David L., Bian, Chao, Cam, Graham R., Chen, Yulin, Cheng, Shifeng, DeSilva, Udaya, Dixen, Karen, Dong, Yang, Fan, Guangyi, Franklin, Ian R., Fu, Shaoyin, Fuentes-Utrilla, Pablo, Guan, Rui, Highland, Margaret A., Holder, Michael E., Huang, Guodong, Ingham, Aaron B., Jhangiani, Shalini N., Kalra, Divya, Kovar, Christie L., Lee, Sandra L., Liu, Weiqing, Liu, Xin, Lu, Changxin, Lv, Tian, Mathew, Tittu, McWilliam, Sean, Menzies, Moira, Pan, Shengkai, Robelin, David, Servin, Bertrand, Townley, David, Wang, Wenliang, Wei, Bin, White, Stephen N., Yang, Xinhua, Ye, Chen, Yue, Yaojing, Zeng, Peng, Zhou, Qing, Hansen, Jacob B., Kristiansen, Karsten, Gibbs, Richard A., Flicek, Paul, Warkup, Christopher C., Jones, Huw E., Oddy, V. Hutton, Nicholas, Frank W., McEwan, John C., Kijas, James W., Wang, Jun, Worley, Kim C., Archibald, Alan L., Cockett, Noelle, Xu, Xun, Wang, Wen, Dalrymple, Brian P.

Volltext

Efficacy of Oral Mixed Tocotrienols in Diabetic Peripheral Neuropathy: A Randomized Clinical Trial von Hor, Chee Peng, Fung, Wai Yee, Ang, Hock Aun, Lim, Sheau Chin, Kam, Li Ying, Sim, Su-Way, Lim, Luen Hui, Choon, Wai Yee, Wong, Jia Woei, Ch’ng, Alan Swee Hock, Beh, Kelvin Khai Meng, Wee, Hong Chin, Ong, Loke Meng, Khan, Nurzalina Abdul Karim, Sulaiman, Syed Azhar Syed, Shuaib, Ibrahim Lutfi, Bakar, Adlina, Yusof, Yusnita, Yusof, Yusmawati Mohd, Abu Bakar, Fatimah, Tang, Wei Shuong, Teh, Hoon Lang, Wahid, Normala Abdul, Saaidin, Suriani, Idris, Najihah, Yoon, Chee Kin, Ong, Hoon Ngoh, Ganapathy, Jayasumithra T, Loo, Ching Ee, Samy, Michelle M, Zainal, Hadzlinda, Dharan, Shalini C. Sree, Ooi, Bee Yen, Teoh, Pei Yeing, Tye, Yi Loon, Yeoh, Chin Aun, Low, Dy Win, Looi, Irene, Yuen, Kah Hay

Volltext

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders von Ngo, Kathie J., Rexach, Jessica E., Lee, Hane, Petty, Lauren E., Perlman, Susan, Valera, Juliana M., Deignan, Joshua L., Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E., Jhangiani, Shalini N., Coban‐Akdemir, Zeynep H., Boerwinkle, Eric, Muzny, Donna, Nelson, Alexandra B., Hassin‐Baer, Sharon, Poke, Gemma, Neas, Katherine, Geschwind, Michael D., Grody, Wayne W., Gibbs, Richard, Geschwind, Daniel H., Lupski, James R., Below, Jennifer E., Nelson, Stanley F., Fogel, Brent L.

Volltext

Paralog Studies Augment Gene Discovery: DDX and DHX Genes von Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Marmorale, Taylor, Yoon, Margaret, Wang, Kai, Robison, Reid, Cappuccio, Gerarda, Pinelli, Michele, Magli, Adriano, Coban Akdemir, Zeynep, Hui, Joannie, Yeung, Wai Lan, Wong, Bibiana K.Y., Ortega, Lucia, Bekheirnia, Mir Reza, Bierhals, Tatjana, Hempel, Maja, Johannsen, Jessika, Santer, René, Aktas, Dilek, Alikasifoglu, Mehmet, Bozdogan, Sevcan, Aydin, Hatip, Karaca, Ender, Bayram, Yavuz, Ityel, Hadas, Dorschner, Michael, White, Janson J., Wilichowski, Ekkehard, Wortmann, Saskia B., Casella, Erasmo B., Kitajima, Joao Paulo, Kok, Fernando, Monteiro, Fabiola, Muzny, Donna M., Bamshad, Michael, Gibbs, Richard A., Sutton, V. Reid, Van Esch, Hilde, Brunetti-Pierri, Nicola, Hildebrandt, Friedhelm, Brautbar, Ariel, Van den Veyver, Ignatia B., Glass, Ian, Lessel, Davor, Lyon, Gholson J., Lupski, James R.

Volltext

Insights into genetics, human biology and disease gleaned from family based genomic studies von Posey, Jennifer E., O’Donnell-Luria, Anne H., Chong, Jessica X., Harel, Tamar, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M. B., Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A., Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V. Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G., Gibbs, Richard A., Hamosh, Ada, Lifton, Richard P., Matise, Tara C., Rehm, Heidi L., Gerstein, Mark, Bamshad, Michael J., Valle, David, Lupski, James R.

Volltext

International perspectives on the development, application, and evaluation of a multicancer early detection strategy von Johnson, Sonali E., Jayasekar Zurn, Shalini, Anderson, Benjamin O., Vetter, Beatrice N., Katz, Zachary B., Milner, Danny A.

Volltext

Targeting of NAT10 enhances healthspan in a mouse model of human accelerated aging syndrome von Balmus, Gabriel, Larrieu, Delphine, Barros, Ana C., Collins, Casey, Abrudan, Monica, Demir, Mukerrem, Geisler, Nicola J., Lelliott, Christopher J., White, Jacqueline K., Karp, Natasha A., Atkinson, James, Kirton, Andrea, Jacobsen, Matt, Clift, Dean, Rodriguez, Raphael, Adams, David J., Jackson, Stephen P.

Volltext

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation von Du, Haowei, Jolly, Angad, Grochowski, Christopher M, Yuan, Bo, Dawood, Moez, Jhangiani, Shalini N, Li, He, Muzny, Donna, Fatih, Jawid M, Coban-Akdemir, Zeynep, Carlin, Mary Esther, Scheuerle, Angela E, Witzl, Karin, Posey, Jennifer E, Pendleton, Matthew, Harrington, Eoghan, Juul, Sissel, Hastings, P J, Bi, Weimin, Gibbs, Richard A, Sedlazeck, Fritz J, Lupski, James R, Carvalho, Claudia M B, Liu, Pengfei

Volltext

The common marmoset genome provides insight into primate biology and evolution von Worley, Kim C, Warren, Wesley C, Rogers, Jeffrey, Locke, Devin, Muzny, Donna M, Mardis, Elaine R, Weinstock, George M, Tardif, Suzette D, Aagaard, Kjersti M, Archidiacono, Nicoletta, Wang, Qing, Warner, Crystal M, Wildman, Derek E, Witherspoon, David J, Wright, Rita A, Wu, Yuanqing, Xiao, Weimin, Xing, Jinchuan, Zhu, Baoli, Rayan, Nirmala Arul, Gibbs, Richard A, Wilson, Richard K, Batzer, Mark A, Beal, Kathryn, Brejova, Brona, Capozzi, Oronzo, Capuano, Saverio B, Casola, Claudio, Chandrabose, Mimi M, Dao, Marvin Diep, de Jong, Pieter J, del Rosario, Ricardo Cruz-Herrera, Delehaunty, Kkim D, Dinh, Huyen H, Eichler, Evan E, Fitzgerald, Stephen, Flicek, Paul, Fowler, R Gerald, Fronick, Catrina, Fulton, Lucinda A, Fulton, Robert S, Gabisi, Ramatu Ayiesha, Gerlach, Daniel, Graves, Tina A, Gunaratne, Preethi H, Hahn, Matthew W, Haig, David, Han, Yi, Harris, R Alan, Herrero, Javier, Hillier, LaDdeana W, Hubley, Robert, Jhangiani, Shalini N, Jorde, Lynn B, Joshi, Vandita, Karakor, Emre, Konkel, Miriam K, Kovar, Christie L, Kriventseva, Evgenia V, Lee, Sandra L, Liu, Yih-shin, Lopez, John, Lopez-Otin, Carlos, Mansfield, Keith G, Marques-Bonet, Tomas, Minx, Patrick, Misceo, Doriana, Moncrieff, J Scott, Morgan, Margaret B, Nazareth, Lynne V, Newsham, Irene, Nguyen, Ngoc Bich, Okwuonu, Geoffrey O, Prabhakar, Shyam, Pu, Ling-Ling, Quesada, Victor, Ranck, Megan C, Raney, Brian J, Deiros, David Rio, Rocchi, Mariano, Rodriguez, David, Ross, Corinna, Ruffier, Magali, Ruiz, San Juana, Sajjadian, Saba, Santibanez, Jireh, Schrider, Daniel R, Searle, Steve, Skaletsky, Helen, Soibam, Benjamin, Smit, Arian F A, Tennakoon, Jayantha B, Tomaska, Lubomir, Ullmer, Brygg, Vejnar, Charles E, Ventura, Mario, Vilella, Albert J, Vinar, Tomas, Vogel, Jan-Hinnerk, Walker, Jerilyn A

Volltext

Germline mutations in shelterin complex genes are associated with familial glioma von Bainbridge, Matthew N, Armstrong, Georgina N, Gramatges, M Monica, Bertuch, Alison A, Jhangiani, Shalini N, Doddapaneni, Harsha, Lewis, Lora, Tombrello, Joseph, Tsavachidis, Spyros, Liu, Yanhong, Jalali, Ali, Plon, Sharon E, Lau, Ching C, Parsons, Donald W, Claus, Elizabeth B, Barnholtz-Sloan, Jill, Il'yasova, Dora, Schildkraut, Joellen, Ali-Osman, Francis, Sadetzki, Siegal, Johansen, Christoffer, Houlston, Richard S, Jenkins, Robert B, Lachance, Daniel, Olson, Sara H, Bernstein, Jonine L, Merrell, Ryan T, Wrensch, Margaret R, Walsh, Kyle M, Davis, Faith G, Lai, Rose, Shete, Sanjay, Aldape, Kenneth, Amos, Christopher I, Thompson, Patricia A, Muzny, Donna M, Gibbs, Richard A, Melin, Beatrice S, Bondy, Melissa L

Volltext

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome von Dyment, David A., O'Donnell‐Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping‐Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, Boer, Elke, Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, López‐Giráldez, Francesc, Matise, Tara C., McEvoy‐Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Õunap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil

Volltext

Clinician and Patient Acceptability of Self-Collected Human Papillomavirus Testing for Cervical Cancer Screening von Mao, Constance, Kulasingam, Shalini L, Whitham, Hilary K, Hawes, Stephen E, Lin, John, Kiviat, Nancy B

Volltext

Serial Quantitative PCR Assay for Detection, Species Discrimination, and Quantification of Leishmania spp. in Human Samples von Weirather, Jason L, Jeronimo, Selma M B, Gautam, Shalini, Sundar, Shyam, Kang, Mitchell, Kurtz, Melissa A, Haque, Rashidul, Schriefer, Albert, Talhari, Sinésio, Carvalho, Edgar M, Donelson, John E, Wilson, Mary E

Volltext