Presentation and Diagnostic Evaluation of Mitochondrial Disease

Por Dimmock, David P., Lawlor, Michael W.
Publicado no Pediatr Clin North Am (2017)

SIGIRR Genetic Variants in Premature Infants With Necrotizing Enterocolitis

Por Sampath, Venkatesh, Menden, Heather, Helbling, Daniel, Li, Keguo, Gastonguay, Adam, Ramchandran, Ramani, Dimmock, David P.
Publicado no Pediatrics (2015)

Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a...

Por Bennett, Brian, Helbling, Daniel, Meng, Hui, Jarzembowski, Jason, Geurts, Aron M., Friederich, Marisa W., Van Hove, Johan L. K., Lawlor, Michael W., Dimmock, David P.
Publicado no Free Radic Biol Med (2016)

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech

Por Worthey, Elizabeth A, Raca, Gordana, Laffin, Jennifer J, Wilk, Brandon M, Harris, Jeremy M, Jakielski, Kathy J, Dimmock, David P, Strand, Edythe A, Shriberg, Lawrence D
Publicado em 2013

The Role of Molecular Testing and Enzyme Analysis in the Management of Hypomorphic Citrullinemia

Por Dimmock, David P., Trapane, Pamela, Feigenbaum, Annette, Keegan, Catherine E., Cederbaum, Stephen, Gibson, James, Gambello, Michael J., Vaux, Keith, Ward, Patricia, Rice, Gregory M., Wolff, Jon A, O’Brien, William E., Fang, Ping
Publicado em 2008

Efficient Precision Genome Editing in iPSCs via Genetic Co-targeting with Selection

Por Mitzelfelt, Katie A., McDermott-Roe, Chris, Grzybowski, Michael N., Marquez, Maribel, Kuo, Chieh-Ti, Riedel, Michael, Lai, Shuping, Choi, Melinda J., Kolander, Kurt D., Helbling, Daniel, Dimmock, David P., Battle, Michele A., Jou, Chuanchau J., Tristani-Firouzi, Martin, Verbsky, James W., Benjamin, Ivor J., Geurts, Aron M.
Publicado no Stem Cell Reports (2017)

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic

Por Bick, David, Fraser, Pamela C., Gutzeit, Michael F., Harris, Jeremy M., Hambuch, Tina M., Helbling, Daniel C., Jacob, Howard J., Kersten, Juliet N., Leuthner, Steven R., May, Thomas, North, Paula E., Prisco, Sasha Z., Schuler, Bryce A., Shimoyama, Mary, Strong, Kimberly A., Van Why, Scott K., Veith, Regan, Verbsky, James, Weborg, Arthur M., Wilk, Brandon M., Willoughby, Rodney E., Worthey, Elizabeth A., Dimmock, David P.
Publicado no J Pediatr Genet (2016)

Assuring the quality of next-generation sequencing in clinical laboratory practice

Por Gargis, Amy S, Kalman, Lisa, Berry, Meredith W, Bick, David P, Dimmock, David P, Hambuch, Tina, Lu, Fei, Lyon, Elaine, Voelkerding, Karl V, Zehnbauer, Barbara A, Agarwala, Richa, Bennett, Sarah F, Chen, Bin, Chin, Ephrem L H, Compton, John G, Das, Soma, Farkas, Daniel H, Ferber, Matthew J, Funke, Birgit H, Furtado, Manohar R, Ganova-Raeva, Lilia M, Geigenmüller, Ute, Gunselman, Sandra J, Hegde, Madhuri R, Johnson, Philip L F, Kasarskis, Andrew, Kulkarni, Shashikant, Lenk, Thomas, Liu, C S Jonathan, Manion, Megan, Manolio, Teri A, Mardis, Elaine R, Merker, Jason D, Rajeevan, Mangalathu S, Reese, Martin G, Rehm, Heidi L, Simen, Birgitte B, Yeakley, Joanne M, Zook, Justin M, Lubin, Ira M
Publicado em 2012