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Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.
Published in:
2021
By:
- DeJesus-Hernandez, Mariely;
- Aleff, Ross A;
- Jackson, Jazmyne L;
- Finch, NiCole A;
- Baker, Matthew C;
- Gendron, Tania F;
- Murray, Melissa E;
- McLaughlin, Ian J;
- Harting, John R;
- Graff-Radford, Neill R;
- Oskarsson, Björn;
- Knopman, David S;
- Josephs, Keith A;
- Boeve, Bradley F;
- Petersen, Ronald C;
- Fryer, John D;
- Petrucelli, Leonard;
- Dickson, Dennis W;
- Rademakers, Rosa;
- Ebbert, Mark T W
Publication type:
journal article
A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy.
Published in:
PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049083
By:
- Wieben, Eric D.;
- Aleff, Ross A.;
- Tosakulwong, Nirubol;
- Butz, Malinda L.;
- Highsmith, W. Edward;
- Edwards, Albert O.;
- Baratz, Keith H.
Publication type:
Article
Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy.
Published in:
PLoS ONE, 2021, v. 16, n. 12, p. 1, doi. 10.1371/journal.pone.0260837
By:
- Wieben, Eric D.;
- Aleff, Ross A.;
- Rinkoski, Tommy A.;
- Baratz, Keith H.;
- Basu, Shubham;
- Patel, Sanjay V.;
- Maguire, Leo J.;
- Fautsch, Michael P.
Publication type:
Article
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
Published in:
Journal of Clinical Immunology, 2018, v. 38, n. 3, p. 307, doi. 10.1007/s10875-018-0499-6
By:
- Cousin, Margot A.;
- Smith, Matthew J.;
- Sigafoos, Ashley N.;
- Jin, Jay J.;
- Murphree, Marine I.;
- Boczek, Nicole J.;
- Blackburn, Patrick R.;
- Oliver, Gavin R.;
- Aleff, Ross A.;
- Clark, Karl J.;
- Wieben, Eric D.;
- Joshi, Avni Y.;
- Pichurin, Pavel N.;
- Abraham, Roshini S.;
- Klee, Eric W.
Publication type:
Article
Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy.
Published in:
PLoS ONE, 2019, v. 14, n. 7, p. 1, doi. 10.1371/journal.pone.0219446
By:
- Wieben, Eric D.;
- Aleff, Ross A.;
- Basu, Shubham;
- Sarangi, Vivekananda;
- Bowman, Brett;
- McLaughlin, Ian J.;
- Mills, John R.;
- Butz, Malinda L.;
- Highsmith, Edward W.;
- Ida, Cristiane M.;
- Ekholm, Jenny M.;
- Baratz, Keith H.;
- Fautsch, Michael P.
Publication type:
Article
Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4.
Published in:
PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0200005
By:
- Wieben, Eric D.;
- Aleff, Ross A.;
- Tang, Xiaojia;
- Kalari, Krishna R.;
- Maguire, Leo J.;
- Patel, Sanjay V.;
- Baratz, Keith H.;
- Fautsch, Michael P.
Publication type:
Article
Myopathy With SQSTM1 and TIA1 Variants: clinical and Pathological Features.
Published in:
Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00147
By:
- Niu, Zhiyv;
- Pontifex, Carly Sabine;
- Berini, Sarah;
- Hamilton, Leslie E.;
- Naddaf, Elie;
- Wieben, Eric;
- Aleff, Ross A.;
- Martens, Kristina;
- Gruber, Angela;
- Engel, Andrew G.;
- Pfeffer, Gerald;
- Milone, Margherita
Publication type:
Article
Repopulation of vascularized bone allotransplants with recipient-derived cells: Detection by laser capture microdissection and real-time PCR.
Published in:
Journal of Orthopaedic Research, 2009, v. 27, n. 11, p. 1514, doi. 10.1002/jor.20915
By:
- Pelzer, Michael;
- Larsen, Mikko;
- Friedrich, Patricia F.;
- Aleff, Ross A.;
- Bishop, Allen T.
Publication type:
Article

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