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

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

Heart Transplantation in Children with Mitochondrial Disease

od 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
Wydane w J Pediatr (2019)

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

od 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.
Wydane w J Pediatr (2013)

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

od 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
Wydane 2011

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

od 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.
Wydane w Am J Med Genet A (2018)

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

od 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
Wydane 2012

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

od 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
Wydane 2012

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

od 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.
Wydane w Am J Hum Genet (2017)

Response to Newman et al.

od 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.
Wydane w Genet Med (2017)

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

od 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.
Wydane w Genet Med (2017)

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

od 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
Wydane 2010

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

od 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
Wydane 2008