K
Kirby Siemering
Researcher at Walter and Eliza Hall Institute of Medical Research
Publications - 10
Citations - 812
Kirby Siemering is an academic researcher from Walter and Eliza Hall Institute of Medical Research. The author has contributed to research in topics: Hearing loss & Shrimp. The author has an hindex of 7, co-authored 10 publications receiving 727 citations. Previous affiliations of Kirby Siemering include Royal Children's Hospital.
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Journal ArticleDOI
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
F J del Castillo,Montserrat Rodríguez-Ballesteros,Araceli Álvarez,Hutchin Tp,Emanuela Leonardi,C. A. M. de Oliveira,Hela Azaiez,Zippora Brownstein,Matthew R. Avenarius,Sandrine Marlin,Arti Pandya,Hashem Shahin,Kirby Siemering,Dominique Weil,Wim Wuyts,Luis A. Aguirre,Y. Martin,M A Moreno-Pelayo,Manuela Villamar,Karen B. Avraham,H.-H. M. Dahl,Moien Kanaan,Walter E. Nance,Christine Petit,Richard J.H. Smith,G. Van Camp,Edi Lúcia Sartorato,Alessandra Murgia,F Moreno,I del Castillo +29 more
TL;DR: The finding of a large number of affected subjects with only one GJB2 mutant allele complicates the molecular diagnosis of DFNB1 deafness, which has become the standard of care for the diagnosis of patients with non-syndromic hearing impairment of unknown cause.
Journal ArticleDOI
Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study
Ignacio del Castillo,Miguel A. Moreno-Pelayo,Francisco J. del Castillo,Zippora Brownstein,Sandrine Marlin,Quint Adina,David J. Cockburn,Arti Pandya,Kirby Siemering,G. Parker Chamberlin,Ester Ballana,Wim Wuyts,Andréa Trevas Maciel-Guerra,Araceli Álvarez,Manuela Villamar,Mordechai Shohat,Mordechai Shohat,Dvorah Abeliovich,Hans Henrik M. Dahl,Hans Henrik M. Dahl,Xavier Estivill,Paolo Gasparini,Tim P Hutchin,Walter E. Nance,Edi Lúcia Sartorato,Richard J.H. Smith,Guy Van Camp,Karen B. Avraham,Christine Petit,Felipe Moreno +29 more
TL;DR: A deletion truncating the GJB6 gene (encoding connexin-30) is present in most of the screened populations, with higher frequencies in France, Spain, and Israel, where the percentages of unexplained GJB2 heterozygotes fell to 16.0%-20.9% after screening for the del(GJB6-D13S1830) mutation.
Journal ArticleDOI
Cpipe: a shared variant detection pipeline designed for diagnostic settings
Simon Sadedin,Harriet Dashnow,Harriet Dashnow,Paul A. James,Melanie Bahlo,Melanie Bahlo,Denis C. Bauer,Andrew Lonie,Sebastian Lunke,Ivan Macciocca,Jason P. Ross,Kirby Siemering,Zornitza Stark,Susan M. White,Susan M. White,Graham R. Taylor,Graham R. Taylor,Clara Gaff,Alicia Oshlack,Natalie P. Thorne +19 more
TL;DR: Cpipe is a pipeline designed specifically for clinical genetic disease diagnostics that has been designed to provide fast, effective and reproducible analysis, while also being highly flexible and customisable to meet the individual needs of diverse clinical settings.
Journal ArticleDOI
De novo assembly, characterization, functional annotation and expression patterns of the black tiger shrimp (Penaeus monodon) transcriptome.
Roger Huerlimann,Nicholas M. Wade,Lavinia Gordon,Juan D. Montenegro,Jake Goodall,Sean McWilliam,Matthew Tinning,Kirby Siemering,Erika Giardina,Dallas Donovan,Melony J. Sellars,Jeff A. Cowley,Kelly Condon,Greg J. Coman,Mehar S. Khatkar,Herman W. Raadsma,Gregory E. Maes,Kyall R. Zenger,Dean R. Jerry +18 more
TL;DR: The transcriptome is expected to provide an essential resource to investigate the molecular basis of commercially relevant-significant traits in P. monodon and other shrimp species.
Journal ArticleDOI
Language and Speech Perception Outcomes in Hearing-Impaired Children with and without Connexin 26 Mutations
Hans-Henrik M. Dahl,Melissa Wake,Julia Z. Sarant,Zeffie Poulakis,Kirby Siemering,Peter J. Blamey +5 more
TL;DR: No significant differences were found between the 15 children where connexin 26 was known to be the cause of deafness and the other 37 children in the study.