Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Ralph Oertel"'
Autor:
Simon Sadedin, Alison Yeung, Natasha J Brown, David S. Francis, Katrina M. Bell, David R. Thorburn, Lyndon Gallacher, Justine Elliott, Michelle G. de Silva, Alysia Lovgren, Lilian Downie, Anne H. O’Donnell-Luria, Chloe A Stutterd, Sze Chern Lim, George McGillivray, Martin B. Delatycki, Zornitza Stark, Thomas Cloney, John Christodoulou, Tiong Yang Tan, Susan M. White, Lynn Pais, Cas Simons, Daniel G. MacArthur, Ralph Oertel, Alison G. Compton, Guy Helman, Natalie B Tan
Publikováno v:
J Med Genet
BackgroundClinical exome sequencing typically achieves diagnostic yields of 30%–57.5% in individuals with monogenic rare diseases. Undiagnosed diseases programmes implement strategies to improve diagnostic outcomes for these individuals.AimWe share
Autor:
Meaghan Wall, David Francis, Ingrid Scheffer, Tiong Tan, Krithika Murali, Lyndon Gallacher, David Amor, Himanshu Goel, Lilian Downie, Chloe Stutterd, Emma Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,289 blood and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7e2ff231cc0fa05211200d18443e101
https://doi.org/10.21203/rs.3.rs-2041176/v1
https://doi.org/10.21203/rs.3.rs-2041176/v1
Autor:
David I. Francis, Zornitza Stark, Ingrid E. Scheffer, Tiong Yang Tan, Krithika Murali, Lyndon Gallacher, David J. Amor, Himanshu Goel, Lilian Downie, Chloe A. Stutterd, Emma I. Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L. Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke, Paul Kalitsis, Meaghan Wall
Publikováno v:
European journal of human genetics : EJHG.
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,289 blood and
Autor:
Dinusha Gamage, Rebecca Dickson, Alison Pandelache, Ralph Oertel, Ling Ling, David E. Godler, Rani Sachdev, David Francis
Publikováno v:
Genes
Genes, Vol 12, Iss 798, p 798 (2021)
Genes, Vol 12, Iss 798, p 798 (2021)
We describe a female with a 72 CGG FMR1 premutation (PM) (CGG 55–199) and family history of fragile X syndrome (FXS), referred for prenatal testing. The proband had a high risk of having an affected pregnancy with a full mutation allele (FM) (CGG >
Publikováno v:
Transgender Health, Vol 3, Iss 1, Pp 147-153 (2018)
Transgender Health
Transgender Health
Purpose: The presence of a disorder of sexual development (DSD) acts as a diagnostic specifier for gender dysphoria (GD) under DSM-5, while the International Classification of Diseases (ICD)-10 specifically states that its equivalent diagnosis, gende
Autor:
Ralph Oertel, Louise Hills, Belinda J McClaren, Trent Burgess, Jonathan Cohen, Alison D Archibald, David Francis, Sylvia A Metcalfe, Megan Cotter, Melissa Martyn, Howard R. Slater
Publikováno v:
American Journal of Medical Genetics Part A. 170:1439-1449
An audit was conducted of laboratory/clinical databases of genetic tests performed between January 2003 and December 2009, and for 2014, as well as referrals to the clinical service and a specialist multidisciplinary clinic, to determine genetic test
Autor:
David J. Amor, Claudine Kraan, Bruce Bennetts, Sylvia A Metcalfe, Ralph Oertel, Tiffany Wotton, Alison D Archibald, David E. Godler, Damien L. Bruno, Michael Field, Melanie J Smith, Louise Christie, Quang M. Bui, David Francis, Desirée du Sart
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(12)
Developmental delay phenotypes have been associated with FMR1 premutation (PM: 55–200 CGG repeats) and “gray zone” (GZ: 45–54 CGG repeats) alleles. However, these associations have not been confirmed by larger studies to be useful in pediatri
Autor:
Ralph Oertel, Susan M. White, Christine Sanderson, Andrew J. Kornberg, Howard R. Slater, Julian K Kelly, Ravi Savarirayan, Vanessa Calabro, Trent Burgess, Rupert Hinds, Belinda Chong, Katherine B. Howell, Damien L. Bruno, Natasha J Brown, Anthea Greenway, Zornitza Stark
Publikováno v:
American Journal of Medical Genetics Part A. 164:77-86
A recurrent proximal microdeletion at 15q25.2 with an approximate 1.5 megabase smallest region of overlap has recently been reported in seven patients and is proposed to be associated with congenital diaphragmatic hernia (CDH), mild to moderate cogni
Autor:
Essra Bartlett, Michael C Fahey, Ling Ling, David Francis, Matthew F. Hunter, David E. Godler, Nikki Gelfand, Sara Cronin, Solange Aliaga Vera, Ralph Oertel, Yael Prawer
Publikováno v:
Genes
Genes, Vol 9, Iss 6, p 287 (2018)
Genes, Vol 9, Iss 6, p 287 (2018)
Fragile X syndrome (FXS) is usually associated with a CGG repeat expansion >200 repeats within the FMR1 gene, known as a full mutation (FM). FM alleles produce abnormal methylation of the FMR1 promoter with reduction or silencing of FMR1 gene express
Publikováno v:
Clinical Genetics. 51:1-6
Apparent reduction in the size of the CGG repeat is reported from seven fragile-X mothers to nine offspring in seven extended families. The overall frequency of the reduction amongst 121 fragile-X mother-fragile-X child transmissions was 7.4%, compar