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

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

Heart Transplantation in Children with Mitochondrial Disease

Tekijä 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
Julkaisussa J Pediatr (2019)

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

Tekijä 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.
Julkaisussa J Pediatr (2013)

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

Tekijä 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
Julkaistu 2011

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

Tekijä 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.
Julkaisussa Am J Med Genet A (2018)

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

Tekijä 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
Julkaistu 2012

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

Tekijä 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
Julkaistu 2012

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

Tekijä 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.
Julkaisussa Am J Hum Genet (2017)

Response to Newman et al.

Tekijä 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.
Julkaisussa Genet Med (2017)

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

Tekijä 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.
Julkaisussa Genet Med (2017)

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

Tekijä 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
Julkaistu 2010

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

Tekijä 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
Julkaistu 2008