S
Susan M. White
Researcher at University of Melbourne
Publications - 168
Citations - 6229
Susan M. White is an academic researcher from University of Melbourne. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 36, co-authored 155 publications receiving 4567 citations. Previous affiliations of Susan M. White include Royal Children's Hospital & Churchill Hospital.
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Journal ArticleDOI
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Michelle M. Clark,Zornitza Stark,Lauge Farnaes,Lauge Farnaes,Tiong Yang Tan,Susan M. White,David Dimmock,Stephen F. Kingsmore +7 more
TL;DR: In children with suspected genetic diseases, the diagnostic and clinical utility of WGS/WES were greater than CMA, and WGS should be considered a first-line genomic test for children with suspect genetic diseases.
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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Zornitza Stark,Tiong Yang Tan,Belinda Chong,Gemma R Brett,Patrick Yap,Maie Walsh,Alison Yeung,Heidi Peters,Heidi Peters,Dylan A. Mordaunt,Dylan A. Mordaunt,Shannon Cowie,David J. Amor,Ravi Savarirayan,George McGillivray,Lilian Downie,Paul G Ekert,Christiane Theda,Christiane Theda,Paul A. James,Joy Yaplito-Lee,Monique M. Ryan,Monique M. Ryan,Richard J. Leventer,Richard J. Leventer,Emma Creed,Ivan Macciocca,Katrina M. Bell,Alicia Oshlack,Simon Sadedin,Peter Georgeson,Charlotte Anderson,Natalie P. Thorne,Clara Gaff,Susan M. White +34 more
TL;DR: Singleton WES outperformed standard care in terms of diagnosis rate and the benefits of a diagnosis, namely, impact on management of the child and clarification of reproductive risks for the extended family in a timely manner.
Journal ArticleDOI
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.
B. B. A. De Vries,Susan M. White,Samantha J. L. Knight,Regina Regan,Tessa Homfray,I D Young,Maurice Super,Craig A. McKeown,M. Splitt,Oliver Quarrell,Alison H. Trainer,Martinus F. Niermeijer,Sue Malcolm,Jonathan Flint,Jane A. Hurst,Robin M. Winter +15 more
TL;DR: The results suggest that good indicators for subtelomeric defects are prenatal onset of growth retardation and a positive family history for mental retardation, which will improve the diagnostic pick up rate of subtelomere defects among mentally retarded subjects.
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Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Tiong Yang Tan,Oliver James Dillon,Zornitza Stark,Deborah Schofield,Deborah Schofield,Khurshid Alam,Rupendra N. Shrestha,Belinda Chong,Dean Phelan,Gemma R Brett,Emma Creed,Anna Jarmolowicz,Patrick Yap,Maie Walsh,Lilian Downie,David J. Amor,Ravi Savarirayan,George McGillivray,Alison Yeung,Heidi Peters,Heidi Peters,Susan J. Robertson,Aaron J. Robinson,Ivan Macciocca,Simon Sadedin,Katrina M. Bell,Alicia Oshlack,Peter Georgeson,Natalie P. Thorne,Clara Gaff,Clara Gaff,Susan M. White +31 more
TL;DR: Singleton WES in children with suspected monogenic conditions has high diagnostic yield, and cost-effectiveness is maximized by early application in the diagnostic pathway, compared with the standard diagnostic pathway.
Journal ArticleDOI
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Karen M. Lower,Karen M. Lower,Gillian Turner,Bronwyn Kerr,Katherine D. Mathews,Marie A. Shaw,Agi K. Gedeon,Susan Schelley,H. Eugene Hoyme,Susan M. White,Martin B. Delatycki,Anne K Lampe,Jill Clayton-Smith,Helen Stewart,Conny M A van Ravenswaay,Bert B.A. de Vries,Barbara Cox,Markus Grompe,S A Ross,Paul Q. Thomas,John C. Mulley,John C. Mulley,Jozef Gecz,Jozef Gecz +23 more
TL;DR: A novel, widely expressed zinc-finger (plant homeodomain (PHD)-like finger) gene (PHF6) had eight different missense and truncation mutations in seven familial and two sporadic cases of BFLS, suggestive of a role for PHF6 in transcription.