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Items: 1 to 20 of 1697

1.
Leah R. Fleming, Daniel A. Doherty, Melissa A. Parisi, Ian A. Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay-Aygun
Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1962–1973. Published online 2017 Nov 16. doi: 10.2215/CJN.05660517
PMCID:
PMC5718273
2.
Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen J. Duran, Jonathan Adkins, Sairam A. Kumar, Dana M. Knutzen, Nine V. Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria D. Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A. Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty
J Med Genet.
Published in final edited form as: J Med Genet. 2016 Jan; 53(1): 62–72. Published online 2015 Oct 21. doi: 10.1136/jmedgenet-2015-103250
PMCID:
PMC5060087
3.
Ian G. Phelps, Jennifer C. Dempsey, Megan E. Grout, Christine R. Isabella, Hannah M. Tully, Dan Doherty, Ruxandra Bachmann-Gagescu
Genet Med. 2018 Feb; 20(2): 223–233. Published online 2017 Aug 3. doi: 10.1038/gim.2017.94
PMCID:
PMC5797514
4.
Julie C. Van De Weghe, Tamara D.S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han H. Cheng, Ian G. Phelps, Matthias Gesemann, Himanshu Goel, Ohad S. Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O. Khan, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Stephan C.F. Neuhauss, William B. Dobyns, Fowzan S. Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Am J Hum Genet. 2017 Jul 6; 101(1): 23–36. Published online 2017 Jun 15. doi: 10.1016/j.ajhg.2017.05.010
PMCID:
PMC5501774
5.
Lesley C. Keeler, Sarah E. Marsh, Esther P. Leeflang, Christopher G. Woods, László Sztriha, Lihadh Al-Gazali, Aithala Gururaj, Joseph G. Gleeson
Am J Hum Genet. 2003 Sep; 73(3): 656–662. Published online 2003 Aug 13. doi: 10.1086/378206
PMCID:
PMC1180691
6.
Melissa A. Parisi
Am J Med Genet C Semin Med Genet.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2009 Nov 15; 151C(4): 326–340. doi: 10.1002/ajmg.c.30229
PMCID:
PMC2797758
7.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O’Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O’Day D, Alswaid A, Devi AR, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M, University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass I, Shendure J, Doherty D
J Med Genet.
Published in final edited form as: J Med Genet. 2015 Aug; 52(8): 514–522. Published online 2015 Jun 19. doi: 10.1136/jmedgenet-2015-103087
PMCID:
PMC5082428
8.
Marta Romani, Alessia Micalizzi, Enza Maria Valente
Lancet Neurol.
Published in final edited form as: Lancet Neurol. 2013 Sep; 12(9): 10.1016/S1474-4422(13)70136-4. Published online 2013 Jul 17. doi: 10.1016/S1474-4422(13)70136-4
PMCID:
PMC3809058
9.
Angela C. Summers, Joseph Snow, Edythe Wiggs, Alexander G. Liu, Camilo Toro, Andrea Poretti, Wadih M. Zein, Brian P. Brooks, Melissa A. Parisi, Sara Inati, Dan Doherty, Meghana Vemulapalli, Jim C. Mullikin, NISC Comparative Sequencing Program, Thierry Vilboux, William A. Gahl, Meral Gunay-Aygun
Am J Med Genet A.
Published before final editing as: Am J Med Genet A. 2017 May 12 : 10.1002/ajmg.a.38272. doi: 10.1002/ajmg.a.38272 [Epub ahead of print]
PMCID:
PMC5682233
10.
Rama Rao Damerla, Cheng Cui, George C. Gabriel, Xiaoqin Liu, Branch Craige, Brian C. Gibbs, Richard Francis, You Li, Bishwanath Chatterjee, Jovenal T. San Agustin, Thibaut Eguether, Ramiah Subramanian, George B. Witman, Jacques L. Michaud, Gregory J. Pazour, Cecilia W. Lo
Hum Mol Genet. 2015 Jul 15; 24(14): 3994–4005. Published online 2015 Apr 15. doi: 10.1093/hmg/ddv137
PMCID:
PMC4476446
11.
Joshi Stephen, Thierry Vilboux, Luhe Mian, Chulaluck Kuptanon, Courtney M. Sinclair, Deniz Yildirimli, Dawn M. Maynard, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C. Mullikin, NISC Comparative Sequencing Program, Marjan Huizing, William A. Gahl, May Christine V. Malicdan, Meral Gunay-Aygun
Hum Genet.
Published in final edited form as: Hum Genet. 2017 Apr; 136(4): 399–408. Published online 2017 Feb 20. doi: 10.1007/s00439-017-1765-z
PMCID:
PMC5395200
12.
SHIFTEH SATTAR, JOSEPH G GLEESON
Dev Med Child Neurol.
Published in final edited form as: Dev Med Child Neurol. 2011 Sep; 53(9): 793–798. Published online 2011 Jun 17. doi: 10.1111/j.1469-8749.2011.04021.x
PMCID:
PMC3984879
13.
Madeline A. Lancaster, Dipika J. Gopal, Joon Kim, Sahar N. Saleem, Jennifer L. Silhavy, Carrie M. Louie, Bryan E. Thacker, Yuko Williams, Maha S. Zaki, Joseph G. Gleeson
Nat Med. 2011 Jun; 17(6): 726–731. Published online 2011 May 29. doi: 10.1038/nm.2380
PMCID:
PMC3110639
14.
Xiaoyu Shi, Galo Garcia, III, Julie C. Van De Weghe, Ryan McGorty, Gregory J. Pazour, Dan Doherty, Bo Huang, Jeremy F. Reiter
Nat Cell Biol.
Published in final edited form as: Nat Cell Biol. 2017 Oct; 19(10): 1178–1188. Published online 2017 Aug 28. doi: 10.1038/ncb3599
PMCID:
PMC5695680
15.
Junya Hasegawa, Ryo Iwamoto, Takanobu Otomo, Akiko Nezu, Maho Hamasaki, Tamotsu Yoshimori
EMBO J. 2016 Sep 1; 35(17): 1853–1867. Published online 2016 Jun 23. doi: 10.15252/embj.201593148
PMCID:
PMC5007553
16.
Salma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson, Bassam R Ali, Lihadh Al-Gazali
Hum Genome Var. 2014; 1: 14020. Published online 2014 Nov 6. doi: 10.1038/hgv.2014.20
PMCID:
PMC4785524
17.
Lingling Zhu, Limei Xie
Medicine (Baltimore) 2017 Dec; 96(51): e8626. Published online 2017 Dec 22. doi: 10.1097/MD.0000000000008626
PMCID:
PMC5758116
18.
Harjinder Gill, Brinda Muthusamy, Denize Atan, Cathy Williams, Matthew Ellis
Case Rep Pediatr. 2011; 2011: 262641. Published online 2012 Jan 26. doi: 10.1155/2011/262641
PMCID:
PMC3350021
19.
D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen, W A Gahl, M Gentile, N T Gorden, A Hikida, D Knutzen, H Özyurek, I Phelps, P Rosenthal, A Verloes, H Weigand, P F Chance, W B Dobyns, I A Glass
J Med Genet.
Published in final edited form as: J Med Genet. 2010 Jan; 47(1): 8–21. Published online 2009 Jul 1. doi: 10.1136/jmg.2009.067249
PMCID:
PMC3501959
20.
Ahmed Farag Elhassanien, Hesham Abdel-Aziz Alghaiaty
Ann Indian Acad Neurol. 2013 Apr-Jun; 16(2): 239–244. doi: 10.4103/0972-2327.112480
PMCID:
PMC3724083

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