Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene von Kernohan, Kristin D., Dyment, David A., Pupavac, Mihaela, Cramer, Zvi, McBride, Arran, Bernard, Genevieve, Straub, Isabella, Tetreault, Martine, Hartley, Taila, Huang, Lijia, Sell, Erick, Majewski, Jacek, Rosenblatt, David S., Shoubridge, Eric, Mhanni, Aziz, Myers, Tara, Proud, Virginia, Vergano, Samanta, Spangler, Brooke, Farrow, Emily, Kussman, Jennifer, Safina, Nicole, Saunders, Carol, Boycott, Kym M., Thiffault, Isabelle

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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency von Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G., Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A., Rawlins, Lettie E., Wenger, Olivia K., Gunning, Adam C., Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M., Zackai, Elaine H., Keena, Beth, Capasso, Jenina, Levin, Alex V., Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M., Jackson, Adam, Chandler, Kate E., Coban-Akdemir, Zeynep H., Posey, Jennifer E., Banka, Siddharth, Lupski, James R., Sheppard, Sarah E., Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H., Baple, Emma L.

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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1 ) gene: KERNOHAN et al von Kernohan, Kristin D., Dyment, David A., Pupavac, Mihaela, Cramer, Zvi, McBride, Arran, Bernard, Genevieve, Straub, Isabella, Tetreault, Martine, Hartley, Taila, Huang, Lijia, Sell, Erick, Majewski, Jacek, Rosenblatt, David S., Shoubridge, Eric, Mhanni, Aziz, Myers, Tara, Proud, Virginia, Vergano, Samanta, Spangler, Brooke, Farrow, Emily, Kussman, Jennifer, Safina, Nicole, Saunders, Carol, Boycott, Kym M., Thiffault, Isabelle

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A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay von Girirajan, Santhosh, Rosenfeld, Jill A., Cooper, Gregory M., Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E., Baker, Carl, Mefford, Heather C., Kidd, Jeffrey M., Browning, Sharon R., Browning, Brian L., Dickel, Diane E., Levy, Deborah L., Ballif, Blake C., Platky, Kathryn, Farber, Darren M., Gowans, Gordon C., Wetherbee, Jessica J., Asamoah, Alexander, Weaver, David D., Mark, Paul R., Dickerson, Jennifer, Garg, Bhuwan P., Ellingwood, Sara A., Smith, Rosemarie, Banks, Valerie C., Smith, Wendy, McDonald, Marie T., Hoo, Joe J., French, Beatrice N., Hudson, Cindy, Johnson, John P., Ozmore, Jillian R., Moeschler, John B., Surti, Urvashi, Escobar, Luis F., El-Kechen, Dima, Gorski, Jerome L., Kussman, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M., Zackai, Elaine H., Deardorff, Matthew A., Shaikh, Tamim H., Haan, Eric, Friend, Kathryn L., Fichera, Marco, Romano, Corrado, Gécz, Jozef, deLisi, Lynn E., Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G., Eichler, Evan E.

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Secondary recurrent multiple EGIST of the mesentary: A case report and review of the literature von Goukassian, Ilona D, Kussman, S.R, Toribio, Y, Rosen, Jennifer E

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Highlights of B/D-HPP and HPP Resource Pillar Workshops at 12th Annual HUPO World Congress of Proteomics von Aebersold, Ruedi, Bader, Gary D., Edwards, Aled M., van Eyk, Jennifer, Kussman, Martin, Qin, Jun, Omenn, Gilbert S.

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Highlights of B/D-HPP and HPP Resource Pillar Workshops at 12th Annual HUPO World Congress of Proteomics: September 14-18, 2013, Yokohama, Japan von Aebersold, Ruedi, Bader, Gary D, Edwards, Aled M, van Eyk, Jennifer, Kussman, Martin, Qin, Jun, Omenn, Gilbert S

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The utility of CT for predicting bile leaks in hepatic trauma von LeBedis, Christina A., Anderson, Stephan W., Mercier, Gustavo, Kussman, Steven, Coleman, Stephanie L., Golden, Louis, Penn, David R., Uyeda, Jennifer W., Soto, Jorge A.

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