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Items: 1 to 20 of 35

1.
Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions
Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann
Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042
PMCID:
PMC7027195
AbstractArticlePDF–1.2M
2.
SSEA3 and Sialyl Lewis a Glycan Expression Is Controlled by B3GALT5 LTR through Lamin A-NFYA and SIRT1-STAT3 Signaling in Human ES Cells
Bi-He Cai, Hsueh-Yi Lee, Chi-Kan Chou, Po-Han Wu, Hsiang-Chi Huang, Chia-Chun Chao, Hsiao-Yu Chung, Reiji Kannagi
Cells. 2020 Jan; 9(1): 177. Published online 2020 Jan 10. doi: 10.3390/cells9010177
PMCID:
PMC7017369
AbstractArticlePDF–3.7M
3.
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
Xi Luo, Simone Feurstein, Shruthi Mohan, Christopher C. Porter, Sarah A. Jackson, Sioban Keel, Michael Chicka, Anna L. Brown, Chimene Kesserwan, Anupriya Agarwal, Minjie Luo, Zejuan Li, Justyne E. Ross, Panagiotis Baliakas, Daniel Pineda-Alvarez, Courtney D. DiNardo, Alison A. Bertuch, Nikita Mehta, Tom Vulliamy, Ying Wang, Kim E. Nichols, Luca Malcovati, Michael F. Walsh, Lesley H. Rawlings, Shannon K. McWeeney, Jean Soulier, Anna Raimbault, Mark J. Routbort, Liying Zhang, Gabriella Ryan, Nancy A. Speck, Sharon E. Plon, David Wu, Lucy A. Godley
Blood Adv. 2019 Oct 22; 3(20): 2962–2979. Published online 2019 Oct 16. doi: 10.1182/bloodadvances.2019000644
PMCID:
PMC6849945
AbstractArticlePDF–1.0M
4.
Linking Cell Surface Receptors to Microtubules: Tubulin Folding Cofactor D Mediates Dscam Functions during Neuronal Morphogenesis
Misako Okumura, Chisako Sakuma, Masayuki Miura, Takahiro Chihara
J Neurosci. 2015 Feb 4; 35(5): 1979–1990. doi: 10.1523/JNEUROSCI.0973-14.2015
PMCID:
PMC6705359
AbstractArticlePDF–5.7M
5.
DSCAM Deficiency Causes Loss of Pre-Inspiratory Neuron Synchroneity and Perinatal Death
Kenji Amano, Morimitsu Fujii, Satoru Arata, Takuro Tojima, Masaharu Ogawa, Noriyuki Morita, Atsushi Shimohata, Teiichi Furuichi, Shigeyoshi Itohara, Hiroyuki Kamiguchi, Julie R. Korenberg, Akiko Arata, Kazuhiro Yamakawa
J Neurosci. 2009 Mar 4; 29(9): 2984–2996. doi: 10.1523/JNEUROSCI.3624-08.2009
PMCID:
PMC6666194
AbstractArticlePDF–884K
6.
Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China
Chan Zhang, Weiwei Guo, Yujing Cheng, Qi Li, Xin Yang, Run Dai, Linhao Zhu, Wanlu Chen
Mol Genet Genomic Med. 2019 May; 7(5): e574. Published online 2019 Apr 5. doi: 10.1002/mgg3.574
PMCID:
PMC6503013
AbstractArticlePDF–1.2M
7.
Plasmid-based gap-repair recombineered transgenes reveal a central role for introns in mutually exclusive alternative splicing in Down Syndrome Cell Adhesion Molecule exon 4
Irmgard U Haussmann, Pinar Ustaoglu, Ulrike Brauer, Yash Hemani, Thomas C Dix, Matthias Soller
Nucleic Acids Res. 2019 Feb 20; 47(3): 1389–1403. Published online 2018 Dec 12. doi: 10.1093/nar/gky1254
PMCID:
PMC6379703
AbstractArticlePDF–1.6M
8.
Identification of differentially expressed non-coding RNAs and mRNAs involved in Qi stagnation and blood stasis syndrome
Guang Chen, Jialiang Gao, Haoqiang He, Chao Liu, Yongmei Liu, Jun Li, Jie Wang
Exp Ther Med. 2019 Feb; 17(2): 1206–1223. Published online 2018 Dec 7. doi: 10.3892/etm.2018.7068
PMCID:
PMC6327641
AbstractArticlePDF–3.7M
9.
A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21
Laïla Allach El Khattabi, Stéphanie Backer, Amélie Pinard, Marie-Noëlle Dieudonné, Vassilis Tsatsaris, Daniel Vaiman, Luisa Dandolo, Evelyne Bloch-Gallego, Hélène Jammes, Sandrine Barbaux
Eur J Hum Genet. 2019 Jan; 27(1): 49–60. Published online 2018 Sep 11. doi: 10.1038/s41431-018-0267-3
PMCID:
PMC6303248
AbstractArticlePDF–2.1M
10.
The short-sequence design of DNA and its involvement in the 3-D structure of the genome
Guillermo Lamolle, Victor Sabbia, Héctor Musto, Giorgio Bernardi
Sci Rep. 2018; 8: 17820. Published online 2018 Dec 13. doi: 10.1038/s41598-018-35864-9
PMCID:
PMC6292894
AbstractArticlePDF–3.4M
11.
SWIFOLD: Smith-Waterman implementation on FPGA with OpenCL for long DNA sequences
Enzo Rucci, Carlos Garcia, Guillermo Botella, Armando De Giusti, Marcelo Naiouf, Manuel Prieto-Matias
BMC Syst Biol. 2018; 12(Suppl 5): 96. Published online 2018 Nov 20. doi: 10.1186/s12918-018-0614-6
PMCID:
PMC6245597
AbstractArticlePDF–746K
12.
DeepSimulator: a deep simulator for Nanopore sequencing
Yu Li, Renmin Han, Chongwei Bi, Mo Li, Sheng Wang, Xin Gao
Bioinformatics. 2018 Sep 1; 34(17): 2899–2908. Published online 2018 Apr 6. doi: 10.1093/bioinformatics/bty223
PMCID:
PMC6129308
AbstractArticlePDF–615K
13.
Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population
Yong Wang, Qiuming He, Ruizhong Zhang, Wei Zhong, Deli Zhu, Yan Zhang, Huimin Xia
BMC Med Genet. 2018; 19: 116. Published online 2018 Jul 13. doi: 10.1186/s12881-018-0637-2
PMCID:
PMC6045829
AbstractArticlePDF–558K
14.
Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1
Erica Sanford, Kelly Watkins, Shareef Nahas, Michael Gottschalk, Nicole G. Coufal, Lauge Farnaes, David Dimmock, Stephen F. Kingsmore, on behalf of the RCIGM Investigators
Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002485. doi: 10.1101/mcs.a002485
PMCID:
PMC5983174
AbstractArticlePDF–830K
15.
Evaluation of extraction methods for methylated cell-free fetal DNA from maternal plasma
Ji Hyae Lim, Bom Yi Lee, Jin Woo Kim, You Jung Han, Jin Hoon Chung, Min Hyoung Kim, Dong Wook Kwak, So Yeon Park, Hee Back Choi, Hyun Mee Ryu
J Assist Reprod Genet. 2018 Apr; 35(4): 637–641. Published online 2018 Feb 8. doi: 10.1007/s10815-018-1114-8
PMCID:
PMC5949107
AbstractArticlePDF–353K
16.
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye
Jennifer C. Hocking, Jakub K. Famulski, Kevin H. Yoon, Sonya A. Widen, Cassidy S. Bernstein, Sophie Koch, Omri Weiss, FORGE Canada Consortium, Seema Agarwala, Adi Inbal, Ordan J. Lehmann, Andrew J. Waskiewicz
PLoS Genet. 2018 Mar; 14(3): e1007246. Published online 2018 Mar 9. doi: 10.1371/journal.pgen.1007246
PMCID:
PMC5862500
AbstractArticlePDF–33M
17.
CRISPR/Cas9-induced transgene insertion and telomere-associated truncation of a single human chromosome for chromosome engineering in CHO and A9 cells
Narumi Uno, Kei Hiramatsu, Katsuhiro Uno, Shinya Komoto, Yasuhiro Kazuki, Mitsuo Oshimura
Sci Rep. 2017; 7: 12739. Published online 2017 Oct 6. doi: 10.1038/s41598-017-10418-7
PMCID:
PMC5630592
AbstractArticlePDF–1.3M
18.
Implication of the APP Gene in Intellectual Abilities
Craig Myrum, Oleksii Nikolaienko, Clive R. Bramham, Jan Haavik, Tetyana Zayats
J Alzheimers Dis. 2017; 59(2): 723–735. Prepublished online 2017 Jun 27. Published online 2017 Jul 17. doi: 10.3233/JAD-170049
PMCID:
PMC5523840
AbstractArticlePDF–538K
19.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair Alhassnan, Maha Alotaibi, Husam Kayyali, Mohammed Al-Owain, Ayaz Shah, Zuhair Rahbeeni, Mohammad A. Al-Muhaizea, Hamad I. Alzaidan, Edward Cupler, Saeed Bohlega, Eissa Faqeih, Maha Faden, Banan Alyounes, Dyala Jaroudi, Ewa Goljan, Hadeel Elbardisy, Asma Akilan, Renad Albar, Hesham Aldhalaan, Shamshad Gulab, Aziza Chedrawi, Bandar K Al Saud, Wesam Kurdi, Nawal Makhseed, Tahani Alqasim, Heba Y. El Khashab, Hamoud Al-Mousa, Amal Alhashem, Imaduddin Kanaan, Talal Algoufi, Khalid Alsaleem, Talal A. Basha, Fathiya Al-Murshedi, Sameena Khan, Adila Al-Kindy, Maha Alnemer, Sami Al-Hajjar, Suad Alyamani, Hasan Aldhekri, Ali Al-Mehaidib, Rand Arnaout, Omar Dabbagh, Mohammad Shagrani, Dieter Broering, Maha Tulbah, Amal Alqassmi, Maisoon Almugbel, Mohammed AlQuaiz, Abdulaziz Alsaman, Khalid Al-Thihli, Raashda A. Sulaiman, Wajeeh Al-Dekhail, Abeer Alsaegh, Fahad A. Bashiri, Alya Qari, Suzan Alhomadi, Hisham Alkuraya, Mohammed Alsebayel, Muddathir H Hamad, Laszlo Szonyi, Faisal Abaalkhail, Sulaiman M. Al-Mayouf, Hamad Almojalli, Khalid S. Alqadi, Hussien Elsiesy, Taghreed M. Shuaib, Mohammed Zain Seidahmed, Ibraheem Abosoudah, Hana Akleh, Abdulaziz AlGhonaium, Turki M. Alkharfy, Fuad Al Mutairi, Wafa Eyaid, Abdullah Alshanbary, Farrukh R. Sheikh, Fahad I. Alsohaibani, Abdullah Alsonbul, Saeed Al Tala, Soher Balkhy, Randa Bassiouni, Ahmed S. Alenizi, Maged H. Hussein, Saeed Hassan, Mohamed Khalil, Brahim Tabarki, Saad Alshahwan, Amira Oshi, Yasser Sabr, Saad Alsaadoun, Mustafa A. Salih, Sarar Mohamed, Habiba Sultana, Abdullah Tamim, Moayad El-Haj, Saif Alshahrani, Dalal K. Bubshait, Majid Alfadhel, Tariq Faquih, Mohamed El-Kalioby, Shazia Subhani, Zeeshan Shah, Nabil Moghrabi, Brian F. Meyer, Fowzan S. Alkuraya
Hum Genet. 2017; 136(8): 921–939. Published online 2017 Jun 9. doi: 10.1007/s00439-017-1821-8
PMCID:
PMC5502059
AbstractArticlePDF–528K
20.
Genome-wide TOP2A DNA cleavage is biased toward translocated and highly transcribed loci
Xiang Yu, James W. Davenport, Karen A. Urtishak, Marie L. Carillo, Sager J. Gosai, Christos P. Kolaris, Jo Ann W. Byl, Eric F. Rappaport, Neil Osheroff, Brian D. Gregory, Carolyn A. Felix
Genome Res. 2017 Jul; 27(7): 1238–1249. doi: 10.1101/gr.211615.116
PMCID:
PMC5495075
AbstractArticlePDF–709K

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