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Items: 1 to 20 of 2905

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.
Laura Powell, Eric Olinger, Sarah Wedderburn, Vijayalakshmi Salem Ramakumaran, Usha Kini, Jill Clayton-Smith, Simon C Ramsden, Sarah J Rice, Miguel Barroso-Gil, Ian Wilson, Lorraine Cowley, Sally Johnson, Elizabeth Harris, Tara Montgomery, Marta Bertoli, Genomics England Research Consortium, Eugen Boltshauser, John A Sayer
Brain Commun. 2021; 3(3): fcab163. Published online 2021 Jul 16. doi: 10.1093/braincomms/fcab163
PMCID:
PMC8374969
5.
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
6.
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
7.
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
8.
Brian P. Brooks, Wadih M. Zein, Amy H. Thompson, Maryam Mokhtarzadeh, Daniel A. Doherty, Melissa Parisi, Ian A. Glass, May C. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay-Aygun
Ophthalmology.
Published in final edited form as: Ophthalmology. 2018 Dec; 125(12): 1937–1952. Published online 2018 Jul 25. doi: 10.1016/j.ophtha.2018.05.026
PMCID:
PMC8932443
9.
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
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.
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
12.
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
13.
Ali Al-Smair, Sara Younes, Osama Saadeh, Ahmad Saadeh, Ahmad Al-Ali
Cureus. 2022 Apr; 14(4): e24226. Published online 2022 Apr 18. doi: 10.7759/cureus.24226
PMCID:
PMC9114833
14.
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
15.
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
16.
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
17.
Karen I. Lange, Sofia Tsiropoulou, Katarzyna Kucharska, Oliver E. Blacque
Dis Model Mech. 2021 Jan 1; 14(1): dmm046631. Published online 2021 Jan 26. doi: 10.1242/dmm.046631
PMCID:
PMC7859701
18.
Mouna Sghir, Wassia Kesomtini
Pan Afr Med J. 2015; 21: 69. Published online 2015 May 28. doi: 10.11604/pamj.2015.21.69.7068
PMCID:
PMC4594980
19.
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
20.
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

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