Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts von Cirulli, Elizabeth T., White, Simon, Read, Robert W., Elhanan, Gai, Metcalf, William J., Tanudjaja, Francisco, Fath, Donna M., Sandoval, Efren, Isaksson, Magnus, Schlauch, Karen A., Grzymski, Joseph J., Lu, James T., Washington, Nicole L.

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A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis von Cheung, Yee Him, Gayden, Tenzin, Campeau, Philippe M., LeDuc, Charles A., Russo, Donna, Nguyen, Van-Hung, Guo, Jiancheng, Qi, Ming, Guan, Yanfang, Albrecht, Steffen, Moroz, Brenda, Eldin, Karen W., Lu, James T., Schwartzentruber, Jeremy, Malkin, David, Berghuis, Albert M., Emil, Sherif, Gibbs, Richard A., Burk, David L., Vanstone, Megan, Lee, Brendan H., Orchard, David, Boycott, Kym M., Chung, Wendy K., Jabado, Nada

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Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase von Campeau, Philippe M., Lenk, Guy M., Lu, James T., Bae, Yangjin, Burrage, Lindsay, Turnpenny, Peter, Román Corona-Rivera, Jorge, Morandi, Lucia, Mora, Marina, Reutter, Heiko, Vulto-van Silfhout, Anneke T., Faivre, Laurence, Haan, Eric, Gibbs, Richard A., Meisler, Miriam H., Lee, Brendan H.

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SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads von Bolze, Alexandre, Luo, Shishi, White, Simon, Cirulli, Elizabeth T., Wyman, Dana, Dei Rossi, Andrew, Machado, Henrique, Cassens, Tyler, Jacobs, Sharoni, Schiabor Barrett, Kelly M., Tanudjaja, Francisco, Tsan, Kevin, Nguyen, Jason, Ramirez, Jimmy M., Sandoval, Efren, Wang, Xueqing, Wong, David, Becker, David, Laurent, Marc, Lu, James T., Isaksson, Magnus, Washington, Nicole L., Lee, William

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Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome von Campeau, Philippe M., Kim, Jaeseung C., Lu, James T., Schwartzentruber, Jeremy A., Abdul-Rahman, Omar A., Schlaubitz, Silke, Murdock, David M., Jiang, Ming-Ming, Lammer, Edward J., Enns, Gregory M., Rhead, William J., Rowland, Jon, Robertson, Stephen P., Cormier-Daire, Valérie, Bainbridge, Matthew N., Yang, Xiang-Jiao, Gingras, Marie-Claude, Gibbs, Richard A., Rosenblatt, David S., Majewski, Jacek, Lee, Brendan H.

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Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population von Read, Robert W., Schlauch, Karen A., Lombardi, Vincent C., Cirulli, Elizabeth T., Washington, Nicole L., Lu, James T., Grzymski, Joseph J.

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Genotype–Phenotype Correlation — Promiscuity in the Era of Next-Generation Sequencing von Lu, James T, Campeau, Philippe M, Lee, Brendan H

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A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia von Madan, Simran, Liu, Wei, Lu, James T., Sutton, V. Reid, Toth, Bryant, Joe, Priscilla, Waterson, John R., Gibbs, Richard A., Van den Veyver, Ignatia B., Lammer, Edward J., Campeau, Philippe M., Lee, Brendan H.

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The genetic basis of DOORS syndrome: an exome-sequencing study von Campeau, Philippe M, MD, Kasperaviciute, Dalia, PhD, Lu, James T, PhD, Burrage, Lindsay C, PhD, Kim, Choel, PhD, Hori, Mutsuki, MD, Powell, Berkley R, MD, Stewart, Fiona, MBBS, Félix, Têmis Maria, PhD, van den Ende, Jenneke, MD, Wisniewska, Marzena, PhD, Kayserili, Hülya, MD, Rump, Patrick, PhD, Nampoothiri, Sheela, MSc, Aftimos, Salim, MD, Mey, Antje, MD, Nair, Lal D V, MD, Begleiter, Michael L, MSc, De Bie, Isabelle, PhD, Meenakshi, Girish, MBBS, Murray, Mitzi L, MD, Repetto, Gabriela M, MD, Golabi, Mahin, MD, Blair, Edward, MD, Male, Alison, MD, Giuliano, Fabienne, MD, Kariminejad, Ariana, MD, Newman, William G, Bhaskar, Sanjeev S, Dickerson, Jonathan E, Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C, PhD, Wieczorek, Dagmar, MD, Tostevin, Anna, MSc, Wiszniewska, Joanna, MD, Cheung, Sau Wai, Prof, Hennekam, Raoul C, Prof, Gibbs, Richard A, Prof, Lee, Brendan H, Prof, Sisodiya, Sanjay M, Prof

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Pathogenic variants in actionable MODY genes are associated with type 2 diabetes von Bonnefond, Amélie, Boissel, Mathilde, Bolze, Alexandre, Durand, Emmanuelle, Toussaint, Bénédicte, Vaillant, Emmanuel, Gaget, Stefan, Graeve, Franck De, Dechaume, Aurélie, Allegaert, Frédéric, Guilcher, David Le, Yengo, Loïc, Dhennin, Véronique, Borys, Jean-Michel, Lu, James T., Cirulli, Elizabeth T., Elhanan, Gai, Roussel, Ronan, Balkau, Beverley, Marre, Michel, Franc, Sylvia, Charpentier, Guillaume, Vaxillaire, Martine, Canouil, Mickaël, Washington, Nicole L., Grzymski, Joseph J., Froguel, Philippe

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The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms von Campeau, Philippe M., Lu, James T., Dawson, Brian C., Fokkema, Ivo F. A. C., Robertson, Stephen P., Gibbs, Richard A., Lee, Brendan H.

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Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis von CAMPEAU, Philippe M, LU, James T, WHYTE, Michael P, LEE, Brendan H, SULE, Gautam, JIANG, Ming-Ming, BAE, Yangjin, MADAN, Simran, HÖGLER, Wolfgang, SHAW, Nicholas J, MUMM, Steven, GIBBS, Richard A

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Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene von Grover, Monica, Campeau, Philippe M, Lietman, Caressa Dee, Lu, James T, Gibbs, Richard A, Schlesinger, Alan E, Lee, Brendan H

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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies von Machol, Keren, Jain, Mahim, Almannai, Mohammed, Orand, Thibault, Lu, James T., Tran, Alyssa, Chen, Yuqing, Schlesinger, Alan, Gibbs, Richard, Bonafe, Luisa, Campos‐Xavier, Ana Belinda, Unger, Sheila, Superti‐Furga, Andrea, Lee, Brendan H., Campeau, Philippe M., Burrage, Lindsay C.

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An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation von Patel, Ronak M, Liu, David, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Lu, James T, Sutton, V Reid, Fernbach, Susan D, Azamian, Mahshid, White, Lisa, Edmond, Jane C, Paysse, Evelyn A, Belmont, John W, Muzny, Donna, Lupski, James R, Gibbs, Richard A, Lewis, Richard Alan, Lee, Brendan H, Lalani, Seema R, Campeau, Philippe M

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Emergence and rapid transmission of SARS-CoV-2 B.1.1.7 in the United States von Washington, Nicole L., Gangavarapu, Karthik, Zeller, Mark, Bolze, Alexandre, Cirulli, Elizabeth T., Schiabor Barrett, Kelly M., Larsen, Brendan B., Anderson, Catelyn, White, Simon, Cassens, Tyler, Jacobs, Sharoni, Levan, Geraint, Nguyen, Jason, Ramirez, Jimmy M., Rivera-Garcia, Charlotte, Sandoval, Efren, Wang, Xueqing, Wong, David, Spencer, Emily, Robles-Sikisaka, Refugio, Kurzban, Ezra, Hughes, Laura D., Deng, Xianding, Wang, Candace, Servellita, Venice, Valentine, Holly, De Hoff, Peter, Seaver, Phoebe, Sathe, Shashank, Gietzen, Kimberly, Sickler, Brad, Antico, Jay, Hoon, Kelly, Liu, Jingtao, Harding, Aaron, Bakhtar, Omid, Basler, Tracy, Austin, Brett, MacCannell, Duncan, Isaksson, Magnus, Febbo, Phillip G., Becker, David, Laurent, Marc, McDonald, Eric, Yeo, Gene W., Knight, Rob, Laurent, Louise C., de Feo, Eileen, Worobey, Michael, Chiu, Charles Y., Suchard, Marc A., Lu, James T., Lee, William, Andersen, Kristian G.

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Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing von Lu, James T., Ferber, Matthew, Hagenkord, Jill, Levin, Elissa, South, Sarah, Kang, Hyunseok P., Strong, Kimberly A., Bick, David P.

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Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility von van Blokland, Irene, Lanting, Pauline, Ori, Anil P. S., Vonk, Judith M., Warmerdam, Robert C. A., Herkert, Johanna C., Boulogne, Floranne, Claringbould, Annique, Lopera-Maya, Esteban A., Bartels, Meike, Hottenga, Jouke-Jan, Ganna, Andrea, Karjalainen, Juha, Hayward, Caroline, Fawns-Ritchie, Chloe, Campbell, Archie, Porteous, David, Cirulli, Elizabeth T., Barrett, Kelly M. Schiabor, Riffle, Stephen, Bolze, Alexandre, White, Simon, Tanudjaja, Francisco, Wang, Xueqing, Ramirez, Jimmy M., Lim, Yan Wei, Lu, James T., Washington, Nicole L., de Geus, Eco J. C., Deelen, Patrick, Boezen, H. Marike, Franke, Lude H.

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Heterozygous variants in ACTL6A , encoding a component of the BAF complex, are associated with intellectual disability: MAROM et al von Marom, Ronit, Jain, Mahim, Burrage, Lindsay C., Song, I-Wen, Graham, Brett H., Brown, Chester W., Stevens, Servi J.C., Stegmann, Alexander P.A., Gunter, Andrew T., Kaplan, Julie D., Gavrilova, Ralitza H., Shinawi, Marwan, Rosenfeld, Jill A., Bae, Yangjin, Tran, Alyssa A., Chen, Yuqing, Lu, James T., Gibbs, Richard A., Eng, Christine, Yang, Yaping, Rousseau, Justine, de Vries, Bert B.A., Campeau, Philippe M., Lee, Brendan

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Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM 5 gene von Grover, Monica, Campeau, Philippe M, Lietman, Caressa Dee, Lu, James T, Gibbs, Richard A, Schlesinger, Alan E, Lee, Brendan H

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