Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Nick Stong"'
Autor:
Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-15 (2021)
Abstract Background Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo noncoding variation ha
Externí odkaz:
https://doaj.org/article/a0957b4159c64ec8b85c8227ab117a02
Autor:
Rajeeva Musunuri, Evin M Padhi, Tristan J. Hayeck, Diane E. Dickel, Sumantra Chatterjee, Brandon J. Mannion, Jennifer A. Akiyama, Avinash Abhyankar, Tychele N. Turner, Zhang Cheng, David U. Gorkin, Michael C. Zody, Len A. Pennacchio, Nick Stong, Jeffrey K. Ng, Giuseppe Narzisi, Lauren E. Fries, Raphael Bernier, Marta Byrska-Bishop, Riana D. Hunter, Andrew S. Allen
Author(s): Padhi, Evin M; Hayeck, Tristan J; Mannion, Brandon; Chatterjee, Sumantra; Byrska-Bishop, Marta; Musunuri, Rajeeva; Narzisi, Giuseppe; Abhyankar, Avinash; Cheng, Zhang; Hunter, Riana D; Akiyama, Jennifer; Fries, Lauren E; Ng, Jeffrey; Stong
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ce5e385530c322e8a97f3800633d4b5
https://doi.org/10.1101/2020.08.28.270751
https://doi.org/10.1101/2020.08.28.270751
Autor:
Camille L. Birch, Elizabeth A. Worthey, Nadiya Sosonkina, Brandon Wilk, Ellen Macnamara, Stan F. Nelson, Alden Y. Huang, Manavalan Gajapathy, Devon Bonner, James Holt, Nick Stong, Melissa A. Wilk, Rebecca C. Spillmann, Donna M. Brown, Shashi, Jennefer N. Kohler, Hang Lee
PurposeClinical whole genome sequencing is becoming more common for determining the molecular diagnosis of rare disease. However, standard clinical practice often focuses on small variants such as single nucleotide variants and small insertions/delet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f57a0348f9d67dc61cba30f460d1b5
https://doi.org/10.1101/627661
https://doi.org/10.1101/627661
Autor:
Robert N. Plasschaert, Horng Shen Chen, Priyankara Wikramasinghe, Nick Stong, Ramana V. Davuluri, Sufeng Hu, Zhong Deng, Zhuo Wang, Paul M. Lieberman, Marisa S. Bartolomei, Aliah Moczan, Harold Riethman
Publikováno v:
The EMBO Journal. 31:4165-4178
The contribution of human subtelomeric DNA and chromatin organization to telomere integrity and chromosome end protection is not yet understood in molecular detail. Here, we show by ChIP-Seq that most human subtelomeres contain a CTCF- and cohesin-bi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f366754f89b864639f572703e902690
https://doi.org/10.1038/emboj.2012.266
https://doi.org/10.1038/emboj.2012.266