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Items: 1 to 20 of 119

1.
Manyan Huang, Chen Lyu, Nianjun Liu, Wendy N. Nembhard, John S. Witte, Charlotte A. Hobbs, Ming Li, the National Birth Defects Prevention Study
Genet Epidemiol.
Published in final edited form as: Genet Epidemiol. 2023 Oct; 47(7): 475–495. Published online 2023 Jun 21. doi: 10.1002/gepi.22533
PMCID:
PMC11781787
2.
Richa Tambi, Binte Zehra, Sharon Nandkishore, Shermin Sharafat, Faiza Kader, Nasna Nassir, Nesrin Mohamed, Awab Ahmed, Reem Abdel Hameid, Samah Alasrawi, Martina Brueckner, Wolfgang M. Kuebler, Wendy K. Chung, Alawi Alsheikh-Ali, Roberto M. Di Donato, Mohammed Uddin, Bakhrom K. Berdiev
Physiol Genomics. 2023 Dec 1; 55(12): 634–646. Published online 2023 Oct 9. doi: 10.1152/physiolgenomics.00070.2023
PMCID:
PMC11550899
3.
John R. Wells, Maria B. Padua, Allison M. Haaning, Amanda M. Smith, Shaine A. Morris, Muhammad Tariq, Stephanie M. Ware
HGG Adv. 2024 Oct 10; 5(4): 100353. Published online 2024 Sep 12. doi: 10.1016/j.xhgg.2024.100353
PMCID:
PMC11470249
4.
Angelina Haesoo Kim, Irmak Sakin, Stephen Viviano, Gulten Tuncel, Stephanie Marie Aguilera, Gizem Goles, Lauren Jeffries, Weizhen Ji, Saquib A Lakhani, Canan Ceylan Kose, Fatma Silan, Sukru Sadik Oner, Oktay I Kaplan, MarmaRare Group, Mahmut Cerkez Ergoren, Ketu Mishra-Gorur, Murat Gunel, Sebnem Ozemri Sag, Sehime G Temel, Engin Deniz
Life Sci Alliance. 2024 Oct; 7(10): e202402708. Published online 2024 Aug 21. doi: 10.26508/lsa.202402708
PMCID:
PMC11339347
5.
Carolina Putotto, Flaminia Pugnaloni, Marta Unolt, Giulio Calcagni, Paolo Versacci, Bruno Marino
Genome Med. 2024; 16: 100. Published online 2024 Aug 13. doi: 10.1186/s13073-024-01375-8
PMCID:
PMC11323548
6.
Anne M. Slavotinek, Michelle L. Thompson, Lisa J. Martin, Bruce D. Gelb
HGG Adv. 2024 Jul 18; 5(3): 100286. Published online 2024 Mar 23. doi: 10.1016/j.xhgg.2024.100286
PMCID:
PMC11024993
7.
Kei Kaburagi, Yuta Hagiwara, Keiji Tachikawa, Noriko Miyake, Hisanao Akiyama, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Yoshihisa Yamano, Takahiro Shimizu, Satomi Mitsuhashi
BMC Neurol. 2024; 24: 119. Published online 2024 Apr 11. doi: 10.1186/s12883-024-03619-x
PMCID:
PMC11007883
8.
Zain Dardas, Jawid M. Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski, Edward G. Jones, Shalini N. Jhangiani, Xander H. T. Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E. Posey, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Zeynep Coban-Akdemir, Shaine A. Morris
Genome Med. 2024; 16: 53. Published online 2024 Apr 3. doi: 10.1186/s13073-024-01312-9
PMCID:
PMC10988827
9.
Wasay Mohiuddin Shaikh Qureshi, Kathryn E. Hentges
Ann Hum Genet. 2024 Jan; 88(1): 4–26. Published online 2023 Oct 23. doi: 10.1111/ahg.12534
PMCID:
PMC10952336
10.
Christopher J Derrick, Emmanuelle Szenker-Ravi, Adrian Santos-Ledo, Ahlam Alqahtani, Amirah Yusof, Lorraine Eley, Alistair H L Coleman, Sumanty Tohari, Alvin Yu-Jin Ng, Byrappa Venkatesh, Essa Alharby, Luke Mansard, Marie-Noelle Bonnet-Dupeyron, Anne-Francoise Roux, Christel Vaché, Joëlle Roume, Patrice Bouvagnet, Naif A M Almontashiri, Deborah J Henderson, Bruno Reversade, Bill Chaudhry
Hum Mol Genet. 2024 Jan 15; 33(2): 150–169. Published online 2023 Oct 10. doi: 10.1093/hmg/ddad171
PMCID:
PMC10772043
11.
John R Wells, Maria B Padua, Stephanie M Ware
Curr Opin Genet Dev.
Published in final edited form as: Curr Opin Genet Dev. 2022 Aug; 75: 101937. Published online 2022 Jun 28. doi: 10.1016/j.gde.2022.101937
PMCID:
PMC10698510
12.
Joseph S Leslie, Rim Hjeij, Asaf Vivante, Elizabeth A Bearce, Laura Dyer, Jiaolong Wang, Lettie Rawlins, Joanna Kennedy, Nishanka Ubeyratna, James Fasham, Zoe H Irons, Samuel B Craig, Julia Koenig, Sebastian George, Ben Pode-Shakked, Yoav Bolkier, Ortal Barel, Shrikant Mane, Kathrine K. Frederiksen, Olivia Wenger, Ethan Scott, Harold E. Cross, Esben Lorentzen, Dominic P Norris, Yair Anikster, Heymut Omran, Daniel T Grimes, Andrew H Crosby, Emma L Baple
Genet Med.
Published in final edited form as: Genet Med. 2022 Nov; 24(11): 2249–2261. Published online 2022 Sep 8. doi: 10.1016/j.gim.2022.07.019
PMCID:
PMC10584193
13.
E. Deniz, M. Pasha, M.E. Guerra, S. Viviano, W. Ji, M. Konstantino, L. Jeffries, S.A. Lakhani, L. Medne, C. Skraban, I. Krantz, M.K. Khokha
Dev Biol.
Published in final edited form as: Dev Biol. 2023 Jul; 499: 75–88. Published online 2023 May 10. doi: 10.1016/j.ydbio.2023.04.006
PMCID:
PMC10373286
14.
Maria B Padua, Benjamin M Helm, John R Wells, Amanda M Smith, Helen M Bellchambers, Arthi Sridhar, Stephanie M Ware
Hum Mol Genet. 2023 Jul 15; 32(14): 2335–2346. Published online 2023 May 9. doi: 10.1093/hmg/ddad065
PMCID:
PMC10321388
15.
Helen M. Bellchambers, Amruta R. Phatak, Mardi J. Nenni, Maria B. Padua, Hongyu Gao, Yunlong Liu, Stephanie M. Ware
Sci Rep. 2023; 13: 10688. Published online 2023 Jul 1. doi: 10.1038/s41598-023-36862-2
PMCID:
PMC10314903
16.
Tong Yi, Xiaoyan Hao, Hairui Sun, Ye Zhang, Jiancheng Han, Xiaoyan Gu, Lin Sun, Xiaowei Liu, Ying Zhao, Yong Guo, Xiaoxue Zhou, Yihua He
ESC Heart Fail. 2023 Apr; 10(2): 917–930. Published online 2022 Dec 7. doi: 10.1002/ehf2.14209
PMCID:
PMC10053168
17.
Andrew T. Barber, Adam J. Shapiro, Stephanie D. Davis, Thomas W. Ferkol, Jeffrey J. Atkinson, Scott D. Sagel, Sharon D. Dell, Kenneth N. Olivier, Carlos E. Milla, Margaret Rosenfeld, Lang Li, Feng-Chang Lin, Kelli M. Sullivan, Nicole A. Capps, Maimoona A. Zariwala, Michael R. Knowles, Margaret W. Leigh
Ann Am Thorac Soc. 2023 Mar 1; 20(3): 397–405. Published online 2023 Mar 1. doi: 10.1513/AnnalsATS.202206-487OC
PMCID:
PMC9993158
18.
Mythily Ganapathi, Christie M. Buchovecky, Fernando Cristo, Priyanka Ahimaz, Carrie Ruzal-Shapiro, Karen Wou, José M. Inácio, Alejandro Iglesias, José A. Belo, Vaidehi Jobanputra
Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006248. doi: 10.1101/mcs.a006248
PMCID:
PMC9808554
19.
Sijie Liu, Wei Wei, Pengcheng Wang, Chunjie Liu, Xuechao Jiang, Tingting Li, Fen Li, Yurong Wu, Sun Chen, Kun Sun, Rang Xu
PLoS Genet. 2022 Dec; 18(12): e1010530. Published online 2022 Dec 2. doi: 10.1371/journal.pgen.1010530
PMCID:
PMC9749982
20.
Emily Sempou, Valentyna Kostiuk, Jie Zhu, M. Cecilia Guerra, Leonid Tyan, Woong Hwang, Elena Camacho-Aguilar, Michael J. Caplan, David Zenisek, Aryeh Warmflash, Nick D. L. Owens, Mustafa K. Khokha
Nat Commun. 2022; 13: 6681. Published online 2022 Nov 5. doi: 10.1038/s41467-022-34363-w
PMCID:
PMC9637099

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