Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan

Bằng Sen, Kuntal, Felice, Michael D., Bannick, Allison, Colombo, Roberto, Conway, Robert L.
Xuất bản năm J Pediatr Genet (2019)

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia

Bằng Liu, Ying, Sidhu, Alpa, Bean, Lora H., Conway, Robert L., Fridovich-Keil, Judith
Xuất bản năm Clin Chim Acta (2015)

Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening

Bằng Ahrens-Nicklas, Rebecca C., Ganetzky, Rebecca D., Rush, Peggy W., Conway, Robert L., Ficicioglu, Can
Xuất bản năm J Inherit Metab Dis (2019)

Methylmalonic Acidemia (MMA) in pregnancy: A case series and literature review

Bằng Raval, Donna B, Merideth, Melissa, Sloan, Jennifer, Braverman, Nancy E., Conway, Robert L., Manoli, Irini, Venditti, Charles P.
Xuất bản năm J Inherit Metab Dis (2015)

Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease

Bằng Banugaria, Suhrad G., Prater, Sean N., McGann, Judeth K., Feldman, Jonathan D., Tannenbaum, Jesse A., Bailey, Carrie, Gera, Renuka, Conway, Robert L., Viskochil, David, Kobori, Joyce A., Rosenberg, Amy S., Kishnani, Priya S.
Được phát hành 2012

Neuroimaging Findings in Macrocephaly–Capillary Malformation: A Longitudinal Study of 17 Patients

Bằng Conway, Robert L., Pressman, Barry D., Dobyns, William B., Danielpour, Moise, Lee, John, Sanchez-Lara, Pedro A., Butler, Merlin G., Zackai, Elaine, Campbell, Lindsey, Saitta, Sulagna C., Clericuzio, Carol L., Milunsky, Jeff M., Hoyme, H. Eugene, Shieh, Joseph, Moeschler, John B., Crandall, Barbara, Lauzon, Julie L., Viskochil, David H., Harding, Brian, Graham, John M.
Xuất bản năm Am J Med Genet A (2007)

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Bằng Rivière, Jean-Baptiste, Mirzaa, Ghayda M., O’Roak, Brian J., Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L., St-Onge, Judith, Schwartzentruber, Jeremy A., Gripp, Karen W., Nikkel, Sarah M., Worthylake, Thea, Sullivan, Christopher T., Ward, Thomas R., Butler, Hailly E., Kramer, Nancy A., Albrecht, Beate, Armour, Christine M., Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A., Innes, A. Micheil, Lauzon, Julie L., Lin, Angela E., Mancini, Grazia M. S., Meschino, Wendy S., Reggin, James D., Saggar, Anand K., Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Shendure, Jay, Graham, John M., Boycott, Kym M., Dobyns, William B.
Được phát hành 2012

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Bằng Mirzaa, Ghayda, Timms, Andrew E., Conti, Valerio, Boyle, Evan August, Girisha, Katta M., Martin, Beth, Kircher, Martin, Olds, Carissa, Juusola, Jane, Collins, Sarah, Park, Kaylee, Carter, Melissa, Glass, Ian, Krägeloh-Mann, Inge, Chitayat, David, Parikh, Aditi Shah, Bradshaw, Rachael, Torti, Erin, Braddock, Stephen, Burke, Leah, Ghedia, Sondhya, Stephan, Mark, Stewart, Fiona, Prasad, Chitra, Napier, Melanie, Saitta, Sulagna, Straussberg, Rachel, Gabbett, Michael, O’Connor, Bridget C., Keegan, Catherine E., Yin, Lim Jiin, Lai, Angeline Hwei Meeng, Martin, Nicole, McKinnon, Margaret, Addor, Marie-Claude, Boccuto, Luigi, Schwartz, Charles E., Lanoel, Agustina, Conway, Robert L., Devriendt, Koenraad, Tatton-Brown, Katrina, Pierpont, Mary Ella, Painter, Michael, Worgan, Lisa, Reggin, James, Hennekam, Raoul, Tsuchiya, Karen, Pritchard, Colin C., Aracena, Mariana, Gripp, Karen W., Cordisco, Maria, Van Esch, Hilde, Garavelli, Livia, Curry, Cynthia, Goriely, Anne, Kayserilli, Hulya, Shendure, Jay, Graham, John, Guerrini, Renzo, Dobyns, William B.
Xuất bản năm JCI Insight (2016)