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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 3, p. 342, doi. 10.1038/ejhg.2014.107
By:
- Gonzaga-Jauregui, Claudia;
- Gamble, Candace N;
- Yuan, Bo;
- Penney, Samantha;
- Jhangiani, Shalini;
- Muzny, Donna M;
- Gibbs, Richard A;
- Lupski, James R;
- Hecht, Jacqueline T
Publication type:
Article
Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly.
Published in:
JAMA Neurology, 2013, v. 70, n. 12, p. 1491, doi. 10.1001/jamaneurol.2013.4598
By:
- Gonzaga-Jauregui, Claudia;
- Lotze, Timothy;
- Jamal, Leila;
- Penney, Samantha;
- Campbell, Ian M.;
- Pehlivan, Davut;
- Hunter, Jill V.;
- Woodbury, Suzanne L.;
- Raymond, Gerald;
- Adesina, Adekunle M.;
- Jhangiani, Shalini N.;
- Reid, Jeffrey G.;
- Muzny, Donna M.;
- Boerwinkle, Eric;
- Lupski, James R.;
- Gibbs, Richard A.;
- Wiszniewski, Wojciech
Publication type:
Article
eFACT: Formative Assessment of Classroom Teaching For Online Classes.
Published in:
Turkish Online Journal of Distance Education (TOJDE), 2012, v. 13, n. 2, p. 119
By:
- Berridge, Gina G.;
- Penney, Samantha;
- Wells, Judy
Publication type:
Article
eFACT: Formative assessment of classroom teaching for online classes.
Published in:
Turkish Online Journal of Distance Education (TOJDE), 2012, v. 13, n. 1, p. 68
By:
- Berridge, Gina G.;
- Penney, Samantha;
- Wells, Judith A.
Publication type:
Article
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
Published in:
2014
By:
- Gonzaga-Jauregui, Claudia;
- Mir, Sabina;
- Penney, Samantha;
- Jhangiani, Shalini;
- Midgen, Craig;
- Finegold, Milton;
- Muzny, Donna M;
- Wang, Min;
- Bacino, Carlos A;
- Gibbs, Richard A;
- Lupski, James R;
- Kellermayer, Richard;
- Hanchard, Neil A
Publication type:
journal article
Heterozygous <i>De Novo</i> and Inherited Mutations in the Smooth Muscle Actin (<i>ACTG2</i>) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome.
Published in:
PLoS Genetics, 2014, v. 10, n. 3, p. 1, doi. 10.1371/journal.pgen.1004258
By:
- Wangler, Michael F.;
- Gonzaga-Jauregui, Claudia;
- Gambin, Tomasz;
- Penney, Samantha;
- Moss, Timothy;
- Chopra, Atul;
- Probst, Frank J.;
- Xia, Fan;
- Yang, Yaping;
- Werlin, Steven;
- Eglite, Ieva;
- Kornejeva, Liene;
- Bacino, Carlos A.;
- Baldridge, Dustin;
- Neul, Jeff;
- Lehman, Efrat Lev;
- Larson, Austin;
- Beuten, Joke;
- Muzny, Donna M.;
- Jhangiani, Shalini
Publication type:
Article
Secondary findings and carrier test frequencies in a large multiethnic sample.
Published in:
Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0171-1
By:
- Gambin, Tomasz;
- Jhangiani, Shalini N.;
- Below, Jennifer E.;
- Campbell, Ian M.;
- Wiszniewski, Wojciech;
- Muzny, Donna M.;
- Staples, Jeffrey;
- Morrison, Alanna C.;
- Bainbridge, Matthew N.;
- Penney, Samantha;
- McGuire, Amy L.;
- Gibbs, Richard A.;
- Lupski, James R.;
- Boerwinkle, Eric
Publication type:
Article
Lessons learned from additional research analyses of unsolved clinical exome cases.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0412-6
By:
- Eldomery, Mohammad K.;
- Coban-Akdemir, Zeynep;
- Harel, Tamar;
- Rosenfeld, JillA.;
- Gambin, Tomasz;
- Stray-Pedersen, Asbjørg;
- Küry, Sébastien;
- Mercier, Sandra;
- Lessel, Davor;
- Denecke, Jonas;
- Wiszniewski, Wojciech;
- Penney, Samantha;
- Pengfei Liu;
- Weimin Bi;
- Lalani, Seema R.;
- Schaaf, Christian P.;
- Wangler, Michael F.;
- Bacino, Carlos A.;
- Lewis, Richard Alan;
- Potocki, Lorraine
Publication type:
Article
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Published in:
Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0360-6
By:
- Eldomery, Mohammad K.;
- Akdemir, Zeynep C.;
- Vögtle, F.-Nora;
- Wu-Lin Charng;
- Mulica, Patrycja;
- Rosenfeld, Jill A.;
- Gambin, Tomasz;
- Shen Gu;
- Burrage, Lindsay C.;
- Al Shamsi, Aisha;
- Penney, Samantha;
- Jhangiani, Shalini N.;
- Zimmerman, Holly H.;
- Muzny, Donna M.;
- Xia Wang;
- Jia Tang;
- Medikonda, Ravi;
- Ramachandran, Prasanna V.;
- Lee-Jun Wong;
- Boerwinkle, Eric
Publication type:
Article

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