BisQC: an operational pipeline for multiplexed bisulfite sequencing

di Chen, Gary G, Diallo, Alpha B, Poujol, Raphaël, Nagy, Corina, Staffa, Alfredo, Vaillancourt, Kathryn, Lutz, Pierre-Eric, Ota, Vanessa K, Mash, Deborah C, Turecki, Gustavo, Ernst, Carl
Pubblicato in BMC Genomics (2014)

Molecular Convergence of Neurodevelopmental Disorders

di Chen, Elizabeth S., Gigek, Carolina O., Rosenfeld, Jill A., Diallo, Alpha B., Maussion, Gilles, Chen, Gary G., Vaillancourt, Kathryn, Lopez, Juan P., Crapper, Liam, Poujol, Raphaël, Shaffer, Lisa G., Bourque, Guillaume, Ernst, Carl
Pubblicato in Am J Hum Genet (2014)

Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pin...

di Lee, Julieann C., Mazor, Tali, Lao, Richard, Wan, Eunice, Diallo, Alpha B., Hill, Nicholas S., Thangaraj, Naina, Wendelsdorf, Katherine, Samuel, David, Kline, Cassie, Banerjee, Anuradha, Auguste, Kurtis, Raffel, Corey, Gupta, Nalin, Berger, Mitchel, Raleigh, David R., Shai, Anny, Phillips, Joanna J., Bollen, Andrew W., Tihan, Tarik, Perry, Arie, Costello, Joseph, Solomon, David A.
Pubblicato in Acta Neuropathol (2019)

Highly penetrant alterations of a critical region including BDNF contribute to human psychopathology

di Ernst, Carl, Marshall, Christian R., Shen, Yiping, Metcalfe, Kay, Rosenfeld, Jill, Hodge, Jennelle C., Torres, Alcy, Blumenthal, Ian, Chiang, Colby, Pillalamarri, Vamsee, Crapper, Liam, Diallo, Alpha B., Ruderfer, Douglas, Pereira, Shahrin, Sklar, Pamela, Purcell, Shaun, Wildin, Robert S., Spencer, Anne C., Quade, Bradley F., Harris, David J., Lemyre, Emanuelle, Wu, Bailin, Stavropoulos, Dimitri J., Geraghty, Michael T., Shaffer, Lisa G., Morton, Cynthia C, Scherer, Stephen W., Gusella, James F., Talkowski, Michael E.
Pubblicazione 2012

Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities

di Talkowski, Michael E., Maussion, Gilles, Crapper, Liam, Rosenfeld, Jill A., Blumenthal, Ian, Hanscom, Carrie, Chiang, Colby, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Diallo, Alpha B., Lopez, Juan Pablo, Turecki, Gustavo, Chen, Elizabeth S., Gigek, Carolina, Harris, David J., Lip, Va, An, Yu, Biagioli, Marta, MacDonald, Marcy E., Lin, Michael, Haggarty, Stephen J., Sklar, Pamela, Purcell, Shaun, Kellis, Manolis, Schwartz, Stuart, Shaffer, Lisa G., Natowicz, Marvin R., Shen, Yiping, Morton, Cynthia C., Gusella, James F., Ernst, Carl
Pubblicazione 2012