Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Catherine, Neeley"'
Autor:
Edwardo G. M. Reynolds, Thomas Lopdell, Yu Wang, Kathryn M. Tiplady, Chad S. Harland, Thomas J. J. Johnson, Catherine Neeley, Katie Carnie, Richard G. Sherlock, Christine Couldrey, Stephen R. Davis, Bevin L. Harris, Richard J. Spelman, Dorian J. Garrick, Mathew D. Littlejohn
Publikováno v:
Genetics Selection Evolution, Vol 54, Iss 1, Pp 1-16 (2022)
Abstract Background Deleterious recessive conditions have been primarily studied in the context of Mendelian diseases. Recently, several deleterious recessive mutations with large effects were discovered via non-additive genome-wide association studi
Externí odkaz:
https://doaj.org/article/c6d74fe902814b03a9b570eab1034eda
Autor:
Keren E. Dittmer, Catherine Neeley, Matthew R. Perrott, Edwardo Reynolds, Dorian J. Garrick, Mathew D. Littlejohn
Publikováno v:
Veterinary Pathology. 59:442-450
Charcot-Marie-Tooth disease (CMT) is a hereditary sensory and motor peripheral neuropathy that is one of the most common inherited neurological diseases of humans and may be caused by mutations in a number of different genes. The subtype Charcot-Mari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1cc4e350f4147fa1d2a67618bf53bd1c
https://doi.org/10.1177/03009858221083041
https://doi.org/10.1177/03009858221083041
Autor:
Carole Charlier, B.L. Harris, Michael Keehan, Dorian J. Garrick, Kathryn Tiplady, Keren E. Dittmer, Gemma Worth, Katie Carnie, Michel Georges, Chad Harland, Thomas Lopdell, Mathew Littlejohn, Catherine Neeley, Thomas Johnson, Mark Walker, Christine Couldrey, Stephen R. Davis, Richard J. Spelman, Richard G. Sherlock, Edwardo Reynolds
Publikováno v:
Nature Genetics. 53:949-954
Mammalian species carry ~100 loss-of-function variants per individual1,2, where ~1-5 of these impact essential genes and cause embryonic lethality or severe disease when homozygous3. The functions of the remainder are more difficult to resolve, altho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85da76a6dbb7ea65191fc5ed105d1d47
https://doi.org/10.1038/s41588-021-00872-5
https://doi.org/10.1038/s41588-021-00872-5
Autor:
Stephen R. Davis, Chad Harland, Edwardo Reynolds, Catherine Neeley, Mathew Littlejohn, B.L. Harris, Richard G. Sherlock, Richard J. Spelman, Yu Wang, Thomas Lopdell, Katie Carnie, Christine Couldrey, Thomas Johnson, Dorian J. Garrick, Kathryn Tiplady
Deleterious recessive conditions have primarily been studied in a Mendelian disease context. Recently, several large effect, deleterious recessive mutations were discovered via non-additive GWAS of quantitative growth and developmental traits in catt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9dcdbfaddb3f4ee85cdf0f431c1e56de
https://doi.org/10.1101/2021.08.30.457863
https://doi.org/10.1101/2021.08.30.457863
Autor:
Edwardo G M, Reynolds, Catherine, Neeley, Thomas J, Lopdell, Michael, Keehan, Keren, Dittmer, Chad S, Harland, Christine, Couldrey, Thomas J J, Johnson, Kathryn, Tiplady, Gemma, Worth, Mark, Walker, Stephen R, Davis, Richard G, Sherlock, Katie, Carnie, Bevin L, Harris, Carole, Charlier, Michel, Georges, Richard J, Spelman, Dorian J, Garrick, Mathew D, Littlejohn
Publikováno v:
Nature genetics. 53(7)
Mammalian species carry ~100 loss-of-function variants per individual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b98754a5d82802f41f89347a7d5cacda
https://pubmed.ncbi.nlm.nih.gov/34045765
https://pubmed.ncbi.nlm.nih.gov/34045765