Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Matthew F, Hunter"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background The Cut Homeobox 1 (CUX1) gene has been implicated in a number of developmental processes and has recently emerged as an important cause of developmental delay and impaired intellectual development. Individuals with variants in CU
Externí odkaz:
https://doaj.org/article/e47dd1d1f921446f86e954b19279e913
Autor:
Emma K. Baker, Marta Arpone, Solange Aliaga Vera, Lesley Bretherton, Alexandra Ure, Claudine M. Kraan, Minh Bui, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael J. Field, Jonathan Cohen, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promot
Externí odkaz:
https://doaj.org/article/e05c1a167cbd4ce9a6910a82c9dd4958
Autor:
Emma K. Baker, Marta Arpone, Solange M. Aliaga, Lesley Bretherton, Claudine M. Kraan, Minh Bui, Howard R. Slater, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael Field, Jonathan Cohen, Kim Cornish, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-13 (2019)
Abstract Background Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, including alleles termed
Externí odkaz:
https://doaj.org/article/c8c8fc51efc34be5844911b0781f350c
Autor:
Natalie B. Tan, Rachel Stapleton, Zornitza Stark, Martin B. Delatycki, Alison Yeung, Matthew F. Hunter, David J. Amor, Natasha J. Brown, Chloe A. Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul Fernandez, Justine Marum, Dean Phelan, Lynn S. Pais, Susan M. White, Sebastian Lunke, Tiong Y. Tan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsolved cases referred for any indication. A secondary objective was to undertake a literature review of studies examining the
Externí odkaz:
https://doaj.org/article/45ad88bd061046b6a6ae906f5cca5936
Autor:
Leisa Rebecca Watson, Charlotte A. Slade, Samar Ojaimi, Sara Barnes, Pasquale Fedele, Prudence Smith, Justine Marum, Sebastian Lunke, Zornitza Stark, Matthew F. Hunter, Vanessa L. Bryant, Michael Sze Yuan Low
Publikováno v:
Allergy, Asthma & Clinical Immunology, Vol 14, Iss 1, Pp 1-5 (2018)
Abstract Background Daclizumab is a humanized monoclonal antibody that blocks CD25, the high affinity alpha subunit of the interleukin-2 receptor. Daclizumab therapy targets T regulatory cell and activated effector T cell proliferation to suppress au
Externí odkaz:
https://doaj.org/article/a9a5213b08cb415fa5b05e82cef8b2f1
Autor:
Ilias Goranitis, You Wu, Sebastian Lunke, Susan M. White, Tiong Y. Tan, Alison Yeung, Matthew F. Hunter, Melissa Martyn, Clara Gaff, Zornitza Stark
Publikováno v:
Genetics in Medicine. 24:1037-1044
To evaluate whether the additional cost of providing increasingly faster genomic results in pediatric critical care is outweighed by reductions in health care costs and increases in personal utility.Hospital costs and medical files from a cohort of 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c749d59a7afa63617415eaa94d101f1d
https://doi.org/10.1016/j.gim.2022.01.013
https://doi.org/10.1016/j.gim.2022.01.013
Autor:
Rigan Tytherleigh, Yael Prawer, Peter G. Kerr, Clara Gaff, Matthew F. Hunter, John Whitlam, Susan M. White, Ella J Wilkins, Sebastian Lunke, Kathleen Nicholls, Kirsty West, Elly Lynch, Mathew Wallis, Belinda Creighton, Chirag Patel, Giulia M Valente, Andrew Talbot, Elizabeth Donaldson, Emma I. Krzesinski, Louise Wardrop, Jessica Ryan, Melissa Martyn, Kushani Jayasinghe, Anna Jarmolowicz, Andrew Mallett, Zornitza Stark, Alison H. Trainer, Catherine Quinlan, Emily J See, Lilian Johnstone
Publikováno v:
Genetics in Medicine
Purpose To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. Methods We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ce68ae635ad6990da54397a9010d63
https://doi.org/10.1038/s41436-020-00963-4
https://doi.org/10.1038/s41436-020-00963-4
Autor:
Melissa Martyn, Zornitza Stark, George McGillivray, Alison Yeung, Sebastian Lunke, Callum McEwan, Dean Phelan, Susan M. White, Yael Prawer, Giulia M Valente, Clara Gaff, Ilias Goranitis, Yana Smagarinsky, Lilian Downie, Martin B. Delatycki, Anna Jarmolowicz, Gemma R Brett, Natasha J Brown, Smitha Kumble, Ravi Savarirayan, Matthew Regan, Chloe A Stutterd, Tiong Yang Tan, Matthew F. Hunter, Rachel Stapleton, Natalie B Tan, Belinda Chong
Publikováno v:
Genetics in Medicine. 22:1986-1993
Purpose Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions are limited by the lack of well-defined comparative cohorts. We sought to evaluate the cost-effectiveness of early GS in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db3b5584f502c895ecc5d1379b61babc
https://doi.org/10.1038/s41436-020-0929-8
https://doi.org/10.1038/s41436-020-0929-8
Autor:
Fathimath Faiz, Kenneth Tan, Ilias Goranitis, Amanda Springer, Crystle Lee, Emma I. Krzesinski, Andrew Fennell, David S. Francis, Zornitza Stark, Sandra T. Cooper, Matthew F. Hunter, Katherine Rose, Sebastian Lunke, Mark R. Davis, Lauren S. Akesson, John Christodoulou, Adam Bournazos
Publikováno v:
Human Mutation. 41:1884-1891
Rapid genomic diagnosis programs are transforming rare disease diagnosis in acute pediatrics. A ventilated newborn with cerebellar hypoplasia underwent rapid exome sequencing (75 h), identifying a novel homozygous ASNS splice-site variant (NM_133436.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c1f06a7843bdbff33098c93ee93cb61
https://doi.org/10.1002/humu.24101
https://doi.org/10.1002/humu.24101
Autor:
Matthew F. Hunter, Marwan Shinawi, Sixto García-Miñaur, Benjamin J. Halliday, Francesca Sperotto, Daniel N. Willis, Ian M. Morison, Alicia Bach, David Markie, Eva Trevisson, Stephen P. Robertson, Jingyi Mi
Publikováno v:
European Journal of Human Genetics. 29:396-401
Germline pathogenic variants in AMER1 cause osteopathia striata with cranial sclerosis (OSCS: OMIM 300373), an X-linked sclerosing bone disorder. Female heterozygotes exhibit metaphyseal striations in long bones, macrocephaly, cleft palate, and, occa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d4d2bbdc7a214dbf8cc5fe8ab44f1ed
https://doi.org/10.1038/s41431-020-00718-4
https://doi.org/10.1038/s41431-020-00718-4