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Items: 1 to 20 of 2280

1.
Ruxandra Bachmann-Gagescu, Jennifer C. Dempsey, Sara Bulgheroni, Maida L. Chen, Stefano D'Arrigo, Ian A. Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y. Kroes, Stephen H. Mack, Sara Nuovo, Melissa A. Parisi, Joseph Snow, Angela C. Summers, Jordan M. Symons, Wadih M. Zein, Eugen Boltshauser, John A. Sayer, Meral Gunay-Aygun, Enza Maria Valente, Dan Doherty
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2020 Jan; 182(1): 229–249. Published online 2019 Nov 11. doi: 10.1002/ajmg.a.61399
PMCID:
PMC7679947
2.
Melissa A. Parisi
Transl Sci Rare Dis. 2019; 4(1-2): 25–49. Published online 2019 Jul 4. doi: 10.3233/TRD-190041
PMCID:
PMC6864416
3.
D. Vijaya Raghavan, V. Vimal Doshi, Shanthi Nambi
Indian J Psychiatry. 2016 Jan-Mar; 58(1): 90–92. doi: 10.4103/0019-5545.174395
PMCID:
PMC4776590
4.
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
5.
Stephanie F. Wang, Tia J. Kowal, Ke Ning, Euna B. Koo, Albert Y. Wu, Vinit B. Mahajan, Yang Sun
Genes (Basel) 2018 Dec; 9(12): 605. Published online 2018 Dec 4. doi: 10.3390/genes9120605
PMCID:
PMC6315342
6.
C Nag, M Ghosh, K Das, TN Ghosh
Ann Med Health Sci Res. 2013 Apr-Jun; 3(2): 291–294. doi: 10.4103/2141-9248.113686
PMCID:
PMC3728883
7.
Ian G. Phelps, Jennifer C. Dempsey, Megan E. Grout, Christine R. Isabella, Hannah M. Tully, Dan Doherty, Ruxandra Bachmann-Gagescu
Genet Med.
Published in final edited form as: Genet Med. 2018 Feb; 20(2): 223–233. Published online 2017 Aug 3. doi: 10.1038/gim.2017.94
PMCID:
PMC5797514
8.
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
9.
Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu, Xu Ma
BMC Med Genet. 2020; 21: 192. Published online 2020 Oct 1. doi: 10.1186/s12881-020-01130-x
PMCID:
PMC7531107
10.
Jingjing Xiang, Lili Zhang, Wei Jiang, Qin Zhang, Ting Wang, Haibo Li, Hong Li
Biomed Res Int. 2018; 2018: 7202168. Published online 2018 May 31. doi: 10.1155/2018/7202168
PMCID:
PMC6000882
11.
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
12.
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
13.
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
14.
Minna Luo, Ruida He, Zaisheng Lin, Yue Shen, Guangyu Zhang, Zongfu Cao, Chao Lu, Dan Meng, Jing Zhang, Xu Ma, Muqing Cao
Front Genet. 2020; 11: 576235. Published online 2020 Oct 14. doi: 10.3389/fgene.2020.576235
PMCID:
PMC7592398
15.
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
16.
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
17.
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
18.
Kathrin Saar, Lihadh Al-Gazali, László Sztriha, Franz Rueschendorf, Mohammed Nur-E-Kamal, André Reis, Riad Bayoumi
Am J Hum Genet. 1999 Dec; 65(6): 1666–1671. Published online 1999 Nov 22. doi: 10.1086/302655
PMCID:
PMC1288377
19.
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
20.
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 in final edited form as: Am J Med Genet A. 2017 Jul; 173(7): 1796–1812. Published online 2017 May 12. doi: 10.1002/ajmg.a.38272
PMCID:
PMC5682233

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