A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria

von Lindegren, Mary Lou, Krishnaswami, Shanthi, Reimschisel, Tyler, Fonnesbeck, Christopher, Sathe, Nila A., McPheeters, Melissa L.
Veröffentlicht 2012

Heart Transplantation in Children with Mitochondrial Disease

von Weiner, Jeffrey G., Lambert, Andrea N., Thurm, Cary, Hall, Matt, Soslow, Jonathan H., Reimschisel, Tyler E., Bearl, David W., Dodd, Debra A., Feingold, Brian, Godown, Justin
Veröffentlicht in J Pediatr (2019)

Comprehensive Assessment of Serious Adverse Events Following Immunization by Health Care Providers

von Williams, S. Elizabeth, Edwards, Kathryn M., Baxter, Roger P., LaRussa, Philip S., Halsey, Neal A., Dekker, Cornelia L., Vellozzi, Claudia, Marchant, Colin D., Donofrio, Peter D., Reimschisel, Tyler E., Berger, Melvin, Gidudu, Jane F., Klein, Nicola P.
Veröffentlicht in J Pediatr (2013)

Phenotypic manifestations of copy number variation in chromosome 16p13.11

von Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bader, Patricia, Lalani, Seema R, Scott, Daryl A, Scaglia, Fernando, Plon, Sharon E, Tsai, Chun-Hui, Reimschisel, Tyler, Roeder, Elizabeth, Malphrus, Amy D, Eng, Patricia A, Hixson, Patricia M, Kang, Sung-Hae L, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau Wai
Veröffentlicht 2011

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant

von Pomerantz, Daniel J., Ferdinandusse, Sacha, Cogan, Joy, Cooper, David N., Reimschisel, Tyler, Robertson, Amy, Bican, Anna, McGregor, Tracy, Gauthier, Jackie, Millington, David S., Andrae, Jaime L. W., Tschannen, Michael R., Helbling, Daniel C., Demos, Wendy M., Denis, Simone, Wanders, Ronald J. A., Newman, John N., Hamid, Rizwan, Phillips, John A.
Veröffentlicht in Am J Med Genet A (2018)

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

von Dharmadhikari, Avinash V., Kang, Sung-Hae L., Szafranski, Przemyslaw, Person, Richard E., Sampath, Srirangan, Prakash, Siddharth K., Bader, Patricia I., Phillips, John A., Hannig, Vickie, Williams, Misti, Vinson, Sherry S., Wilfong, Angus A., Reimschisel, Tyler E., Craigen, William J., Patel, Ankita, Bi, Weimin, Lupski, James R., Belmont, John, Cheung, Sau Wai, Stankiewicz, Pawel
Veröffentlicht 2012

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

von Campbell, Ian M., Yatsenko, Svetlana A., Hixson, Patricia, Reimschisel, Tyler, Thomas, Matthew, Wilson, William, Dayal, Usha, Wheless, James W., Crunk, Amy, Curry, Cynthia, Parkinson, Nicole, Fishman, Leona, Riviello, James J., Nowaczyk, Malgorzata J.M., Zeesman, Susan, Rosenfeld, Jill A., Bejjani, Bassem A., Shaffer, Lisa G., Cheung, Sau Wai, Lupski, James R., Stankiewicz, Pawel, Scaglia, Fernando
Veröffentlicht 2012

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

von Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Sheridan, Eamonn, Ehresmann, Sophie, Rousseau, Justine, St-Denis, Anik, Chai, Guoliang, Ajeawung, Norbert F., Fairbrother, Laura, Reimschisel, Tyler, Bateman, Alexandra, Berry-Kravis, Elizabeth, Xia, Fan, Tardif, Jessica, Parry, David A., Logan, Clare V., Diggle, Christine, Bennett, Christopher P., Hattingh, Louise, Rosenfeld, Jill A., Perry, Michael Scott, Parker, Michael J., Le Deist, Françoise, Zaki, Maha S., Ignatius, Erika, Isohanni, Pirjo, Lönnqvist, Tuula, Carroll, Christopher J., Johnson, Colin A., Gleeson, Joseph G., Kinoshita, Taroh, Campeau, Philippe M.
Veröffentlicht in Am J Hum Genet (2017)

Response to Newman et al.

von Parikh, Sumit, Goldstein, Amy, Karaa, Amel, Koenig, Mary Kay, Anselm, Irina, Brunel-Guitton, Catherine, Christodoulou, John, Cohen, Bruce H., Dimmock, David, Enns, Gregory M., Falk, Marni J., Feigenbaum, Annette, Frye, Richard E., Ganesh, Jaya, Griesemer, David, Haas, Richard, Horvath, Rita, Korson, Mark, Kruer, Michael C., Mancuso, Michelangelo, McCormack, Shana, Raboisson, Marie Josee, Reimschisel, Tyler, Salvarinova, Ramona, Saneto, Russell P., Scaglia, Fernando, Shoffner, John, Stacpoole, Peter W., Sue, Carolyn M., Tarnopolsky, Mark, Van Karnebeek, Clara, Wolfe, Lynne A., Cunningham, Zarazuela Zolkipli, Rahman, Shamima, Chinnery, Patrick F.
Veröffentlicht in Genet Med (2017)

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

von Parikh, Sumit, Goldstein, Amy, Karaa, Amel, Koenig, Mary Kay, Anselm, Irina, Brunel-Guitton, Catherine, Christodoulou, John, Cohen, Bruce H., Dimmock, David, Enns, Gregory M., Falk, Marni J., Feigenbaum, Annette, Frye, Richard E., Ganesh, Jaya, Griesemer, David, Haas, Richard, Horvath, Rita, Korson, Mark, Kruer, Michael C., Mancuso, Michelangelo, McCormack, Shana, Raboisson, Marie Josee, Reimschisel, Tyler, Salvarinova, Ramona, Saneto, Russell P., Scaglia, Fernando, Shoffner, John, Stacpoole, Peter W., Sue, Carolyn M., Tarnopolsky, Mark, Van Karnebeek, Clara, Wolfe, Lynne A., Cunningham, Zarazuela Zolkipli, Rahman, Shamima, Chinnery, Patrick F.
Veröffentlicht in Genet Med (2017)

Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH

von Boone, Philip M., Bacino, Carlos A., Shaw, Chad A., Eng, Patricia A., Hixson, Patricia M., Pursley, Amber N., Kang, Sung-Hae L., Yang, Yaping, Wiszniewska, Joanna, Nowakowska, Beata A., Gaudio, Daniela del, Xia, Zhilian, Simpson-Patel, Gayle, Immken, LaDonna L., Gibson, James B., Tsai, Anne C.-H., Bowers, Jennifer A., Reimschisel, Tyler E., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Gambin, Tomasz, Sykulski, Maciej, Bartnik, Magdalena, Derwinska, Katarzyna, Wisniowiecka-Kowalnik, Barbara, Lalani, Seema R., Probst, Frank J., Bi, Weimin, Beaudet, Arthur L., Patel, Ankita, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel
Veröffentlicht 2010

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

von Brunetti-Pierri, Nicola, Berg, Jonathan S, Scaglia, Fernando, Belmont, John, Bacino, Carlos A, Sahoo, Trilochan, Lalani, Seema R, Graham, Brett, Lee, Brendan, Shinawi, Marwan, Shen, Joseph, Kang, Sung-Hae L, Pursley, Amber, Lotze, Timothy, Kennedy, Gail, Lansky-Shafer, Susan, Weaver, Christine, Roeder, Elizabeth R, Grebe, Theresa A, Arnold, Georgianne L, Hutchison, Terry, Reimschisel, Tyler, Amato, Stephen, Geragthy, Michael T, Innis, Jeffrey W, Obersztyn, Ewa, Nowakowska, Beata, Rosengren, Sally S, Bader, Patricia I, Grange, Dorothy K, Naqvi, Sayed, Garnica, Adolfo D, Bernes, Saunder M, Fong, Chin-To, Summers, Anne, Walters, W David, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai, Patel, Ankita
Veröffentlicht 2008