Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Eddie Ip"'
Publikováno v:
Genomics, Proteomics & Bioinformatics, Vol 17, Iss 5, Pp 540-545 (2019)
Next-generation sequencing (NGS) technologies generate thousands to millions of genetic variants per sample. Identification of potential disease-causal variants is labor intensive as it relies on filtering using various annotation metrics and conside
Externí odkaz:
https://doaj.org/article/dead9408ef354f299f95d7a34c20e131
Autor:
Lakshmikanth L. Chikkamenahalli, Erik Jessen, Cheryl E. Bernard, W.K. Eddie Ip, Margaret Breen-Lyles, Gianluca Cipriani, Suraj R. Pullapantula, Ying Li, Shefaa AlAsfoor, Laura Wilson, Kenneth L. Koch, Braden Kuo, Robert J. Shulman, Bruno P. Chumpitazi, Travis J. McKenzie, Todd A. Kellogg, James Tonascia, Frank A. Hamilton, Irene Sarosiek, Richard McCallum, Henry P. Parkman, Pankaj J. Pasricha, Thomas L. Abell, Gianrico Farrugia, Surendra Dasari, Madhusudan Grover
Publikováno v:
iScience, Vol 27, Iss 3, Pp 108991- (2024)
Summary: Gastrointestinal immune cells, particularly muscularis macrophages (MM) interact with the enteric nervous system and influence gastrointestinal motility. Here we determine the human gastric muscle immunome and its changes in patients with id
Externí odkaz:
https://doaj.org/article/6c7eae83970a49d480513cd5b3e3ac36
Publikováno v:
Cell Reports, Vol 43, Iss 2, Pp 113746- (2024)
Summary: Lactic acid has emerged as an important modulator of immune cell function. It can be produced by both gut microbiota and the host metabolism at homeostasis and during disease states. The production of lactic acid in the gut microenvironment
Externí odkaz:
https://doaj.org/article/bbe23c54e74a4bc1a0a1658c4a24ddef
Publikováno v:
Genomics, Proteomics & Bioinformatics, Vol 17, Iss 5, Pp 540-545 (2019)
Genomics, Proteomics & Bioinformatics
Genomics, Proteomics & Bioinformatics
Next-generation sequencing (NGS) technologies generate thousands to millions of genetic variants per sample. Identification of potential disease-causal variants is labor intensive as it relies on filtering using various annotation metrics and conside
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0943a51e8c69df48886136440c672def
http://www.sciencedirect.com/science/article/pii/S1672022919301494
http://www.sciencedirect.com/science/article/pii/S1672022919301494
Autor:
Gavin Chapman, Michael Troup, Joshua W. K. Ho, Gillian M. Blue, Annabelle Enriquez, Eleni Giannoulatou, Meredith Wilson, Edwin P. Kirk, Jacob E Munro, Eddie Ip, David T. Humphreys, Gary F. Sholler, Robert M. Graham, Nicholas Pachter, David S. Winlaw, Sally L. Dunwoodie, Katrina Harrison, Hartmut Cuny, Dimuthu Alankarage, Justin O. Szot, Richard P. Harvey
Publikováno v:
Genetics in Medicine. 21:1111-1120
Congenital heart disease (CHD) affects up to 1% of live births. However, a genetic diagnosis is not made in most cases. The purpose of this study was to assess the outcomes of genome sequencing (GS) of a heterogeneous cohort of CHD patients. Ninety-s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dbd57ce9ae84d41e9fd8fad8e71c5d83
https://doi.org/10.1038/s41436-018-0296-x
https://doi.org/10.1038/s41436-018-0296-x
Autor:
Michael Troup, Eleni Giannoulatou, Edwin P. Kirk, Gopinath Perumal, Sally L. Dunwoodie, Gary F. Sholler, Richard P. Harvey, Haifa Hong, Emma Rath, Eddie Ip, Mauk Mekel, David S. Winlaw, Jinfen Liu, Debjani Das, Gillian M. Blue, Jozef Gecz, Mikhail Gudkov
Publikováno v:
American heart journal. 244
The most common cyanotic congenital heart disease (CHD) requiring management as a neonate is transposition of great arteries (TGA). Clinically, up to 50% of TGA patients develop some form of neurodevelopmental disability (NDD), thought to have a sign
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8265f7a0d335b9f00aee47e04919eb52
https://pubmed.ncbi.nlm.nih.gov/34670123
https://pubmed.ncbi.nlm.nih.gov/34670123
Autor:
Robert D. Steiner, Yael Lebenthal, Aideen M. McInerney-Leo, Yline Capri, Daphné Lehalle, Adi Mory, Grażyna G Krzemień, Cathy L. Raggio, Monika Miklaszewska, Robert D. Blank, Hila Milo Rasouly, Ali G. Gharavi, Annabelle Enriquez, David T. Humphreys, Emma L. Duncan, Gavin Chapman, Elizabeth Wohler, Paul Leo, Jeanne Amiel, Eddie Ip, Clémantine Dimartino, Christopher T. Gordon, Yael Wilnai, Eleni Giannoulatou, Duncan B. Sparrow, Joelene A Greasby, Hagit Baris Feldman, Delicia Sheng, Rebekah Jobling, Kavitha R Iyer, Philip F Giampietro, Ella M M A Martin, Sally L. Dunwoodie, Nara Sobreira
Publikováno v:
Hum Mol Genet
The genetic causes of multiple congenital anomalies are incompletely understood. Here, we report novel heterozygous predicted loss-of-function (LoF) and predicted damaging missense variants in the WW domain binding protein 11 (WBP11) gene in seven un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9229c8b2fbc5fe323701900de73f4f
https://doi.org/10.1093/hmg/ddaa258
https://doi.org/10.1093/hmg/ddaa258
Autor:
Alison Loughran-Fowlds, Gillian M. Blue, Eddie Ip, Karen Walker, Sally L. Dunwoodie, Eleni Giannoulatou, Nadia Badawi, Gary F. Sholler, Edwin P. Kirk, David S. Winlaw, Richard P. Harvey
Publikováno v:
American Heart Journal. 201:33-39
Up to 20% of children with congenital heart disease (CHD) undergoing cardiac surgery develop neurodevelopmental disabilities (NDD), with some studies reporting persistent impairment. Recent large-scale studies have demonstrated shared genetic mechani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ed86e667a6ac5b80b2672d7c2104955
https://doi.org/10.1016/j.ahj.2018.03.021
https://doi.org/10.1016/j.ahj.2018.03.021
Publikováno v:
Bioinformatics. 35:4405-4407
Motivation In silico prediction tools are essential for identifying variants which create or disrupt cis-splicing motifs. However, there are limited options for genome-scale discovery of splice-altering variants. Results We have developed Spliceogen,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2c5ed05233f12677e53f09b2884ce20
https://doi.org/10.1093/bioinformatics/btz263
https://doi.org/10.1093/bioinformatics/btz263
Autor:
Eddie Ip, W. K.1, Hoshi, Namiko1, Shouval, Dror S.2, Snapper, Scott3,4, Medzhitov, Ruslan1 ruslan.medzhitov@yale.edu
Publikováno v:
Science. 5/5/2017, Vol. 356 Issue 6337, p513-519. 7p. 4 Diagrams.