Zobrazeno 1 - 10
of 227
pro vyhledávání: '"A. C. Gunning"'
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
Abstract Background The use of in silico pathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard variant classification guidelines. Although numerous algorithms have been developed and evaluated
Externí odkaz:
https://doaj.org/article/7a8103a96fdc45a5a5d128cde2639898
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/951cf4b7c5ab4a839d58d79f80a21426
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-16 (2022)
Abstract Background The widespread clinical application of genome-wide sequencing has resulted in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of uncertain significance (VUS). The remarkable rise in the am
Externí odkaz:
https://doaj.org/article/8a18d4fa39a84867a269df47a7e78eaa
Autor:
Zheng Yie Yap, Yo Han Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes A. Mayr, Matias Wagner, Hong Li, Usha Kini, Emily Davis Black, Kristin G. Monaghan, James R. Lupski, Sian Ellard, Dominik S. Westphal, Tamar Harel, Wan Hee Yoon
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
Abstract Background ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane-anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organization, and cholesterol m
Externí odkaz:
https://doaj.org/article/0d5b7ae4a6ea4c1ebee8d4fe1f9fe5f7
Autor:
Amy C. Gunning, Menco J. S. Niemeyer, Mark van Heijl, Karlijn J. P. van Wessem, Ronald V. Maier, Zsolt J. Balogh, Luke P. H. Leenen
Publikováno v:
European Journal of Trauma and Emergency Surgery. 49:1183-1188
Introduction Substantial difference in mortality following severe traumatic brain injury (TBI) across international trauma centers has previously been demonstrated. This could be partly attributed to variability in the severity coding of the injuries
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5584b874e869e1b5080f650a00c33624
https://doi.org/10.1007/s00068-022-02059-x
https://doi.org/10.1007/s00068-022-02059-x
Evaluation ofin silicopathogenicity prediction tools for the classification of small in-frame indels
BackgroundThe use ofin silicopathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard variant classification guidelines. Although numerous algorithms have been developed and evaluated for classif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44a40fd07b019d3bb61c426e660c771d
https://doi.org/10.1101/2022.10.27.22281598
https://doi.org/10.1101/2022.10.27.22281598
Autor:
Nishanka Ubeyratna, Joseph S Leslie, Reham Khalaf-Nazzal, Andrew H. Crosby, Ramez Zeid, Nouar Qutob, Adam C. Gunning, Fida' Al-Hijawi, Wisam Baker, Lucy McGavin, Peter D. Turnpenny, James Fasham, Siying Lin, Emma L. Baple
Publikováno v:
European Journal of Human Genetics
Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease. To date biallelic variants in three genes encoding mitochondrial complex II molecular components have been unequivocally associated with mitochon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e748208870d5b46c486ed68ab8b3b8d
https://doi.org/10.1038/s41431-021-00887-w
https://doi.org/10.1038/s41431-021-00887-w
Autor:
Adam C. Gunning, Shlomit Ezer, Johannes A. Mayr, Ekkehard Wilichowski, Hong Li, Kristin G. Monaghan, Dominik S. Westphal, Emily Black, Yo Han Park, Kate Wilson, Sukyeong Lee, James R. Lupski, Matias Wagner, Saskia B. Wortmann, Usha Kini, Zheng Yie Yap, Tamar Harel, Lita Duraine, Wan Hee Yoon, Sian Ellard
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
Genome Med. 13:55 (2021)
Genome Medicine
Genome Med. 13:55 (2021)
Genome Medicine
BackgroundATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane-anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organization, and cholesterol metabolism.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95d9b9000c75b98d9625dc74a3099fa9
https://doaj.org/article/0d5b7ae4a6ea4c1ebee8d4fe1f9fe5f7
https://doaj.org/article/0d5b7ae4a6ea4c1ebee8d4fe1f9fe5f7
Autor:
Christopher M. Grochowski, Adam C. Gunning, Emma L. Baple, Romina Durigon, Tamar Harel, Carolyn Tysoe, James R. Lupski, Wan Hee Yoon, Ian Holt, Catherine Armstrong, Nayana Lahiri, Andrew Parrish, Vinod K. Misra, Ingrid Scurr, Robert W. Taylor, Caroline F. Wright, Uxoa Fernandez Pelayo, Karina Durlacher-Betzer, Klaudia Strucinska, Antonella Spinazzola, Julia Baptista, Tessa Homfray, Sian Ellard, Richard Caswell, Mikel Muñoz Oreja, John Dean, Mitchell H. Cunningham, Karen Stals, Aleck W.E. Jones
Publikováno v:
American Journal of Human Genetics
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination. We report five
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc7e08bd2ff29f72586b79e1f8468ca5
http://europepmc.org/articles/PMC7010973
http://europepmc.org/articles/PMC7010973
Publikováno v:
Genome medicine. 14(1)
Background The widespread clinical application of genome-wide sequencing has resulted in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of uncertain significance (VUS). The remarkable rise in the amount of g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b87aa96f736761e10c96eee1578599b5
https://pubmed.ncbi.nlm.nih.gov/35869530
https://pubmed.ncbi.nlm.nih.gov/35869530