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Harper B. Fauni

Human Molecular Genetics, Nature Neuroscience, Human Mutation, Brain : a journal of neurology, ACM International Conference on Bioinformatics, Computational Biology and Biomedicine
8
Role
Title
Level Year L/R
🐜 A computational tool (H-MAGMA) for improved prediction of brain disorder risk genes by incorporating brain chromatin interaction profiles
9 auth. N. Sey, Benxia Hu, Won Mah, Harper B. Fauni, J. McAfee, P. Rajarajan, ... K. Brennand, S. Akbarian, H. Won 		7 2020
7
🐜
🐜 Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2
13 auth. Ellen F. Macnamara, Alanna E. Koehler, Precilla D’Souza, Tyra Estwick, Paul R. Lee, G. Vezina, Harper B. Fauni, S. Braddock, E. Torti, J. Holt, ... Prashant Sharma, M. Malicdan, C. Tifft 		5 2019
5
🐜
🐜 A recurrent de novo missense mutation in UBTF causes developmental neuroregression
19 auth. C. Toro, Roderick T. Hori, M. Malicdan, C. Tifft, A. Goldstein, W. Gahl, D. Adams, Harper B. Fauni, L. Wolfe, Jianfeng Xiao, ... M. Khan, Jun Tian, Kevin A. Hope, L. Reiter, Michel G. Tremblay, T. Moss, Alexis L. Franks, Chris Balak, M. LeDoux 		4 2018
4
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🐜 A recurrent de novo missense mutation in UBTF causes developmental neuroregression
19 auth. C. Toro, Roderick T. Hori, M. Malicdan, C. Tifft, A. Goldstein, W. Gahl, D. Adams, Harper B. Fauni, L. Wolfe, Jianfeng Xiao, ... M. Khan, Jun Tian, Kevin A. Hope, L. Reiter, Michel G. Tremblay, T. Moss, Alexis L. Franks, Chris Balak, M. LeDoux 		3 2018
3
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🐬 Connecting gene regulatory relationships to neurobiological mechanisms of brain disorders
N. Sey, Harper B. Fauni, Won Ma, H. Won 		2 2019
2
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🐜 Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.
33 auth. A. Soldatos, T. Nutman, T. Johnson, S. Dowell, J. Sejvar, M. Wilson, J. Derisi, S. Inati, C. Groden, C. Evans, Elise M O’Connell, Bernard Opar Toliva, J. Aceng, Josephine Aryek-Kwe, C. Toro, ... C. Stratakis, A. Buckler, C. Cantilena, T. Palmore, A. Thurm, E. Baker, R. Chang, Harper B. Fauni, David H. Adams, Ellen F. Macnamara, C. Lau, M. Malicdan, Barbara Pusey-Swerdzewski, R. Downing, Sudhir Bunga, Jerry D. Thomas, W. Gahl, A. Nath 		1 2022
1
🐜
🐬 ELITE: Efficiently Locating Insertions of Transposable Elements
Anwica Kashfeen, Harper B. Fauni, T. A. Bell, F. P. Villena, L. McMillan 		0 2019
0
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