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

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

Heart Transplantation in Children with Mitochondrial Disease

by 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
Published in J Pediatr (2019)

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

by 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.
Published in J Pediatr (2013)

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

by 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
Published 2011

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

by 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.
Published in Am J Med Genet A (2018)

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

by 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
Published 2012

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

by 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
Published 2012

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

by 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.
Published in Am J Hum Genet (2017)

Response to Newman et al.

by 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.
Published in Genet Med (2017)

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

by 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.
Published in Genet Med (2017)

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

by 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
Published 2010

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

by 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
Published 2008