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1 . Academic Journal
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
저자
by
Rhett G. Marchant
;
Samantha J. Bryen
;
Melanie Bahlo
;
Anita Cairns
;
Katherine R. Chao
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1250-1266 (2024)
Open Access (Wiley)
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7 . Academic Journal
Haploinsufficiency of SF3B2 causes craniofacial microsomia
저자
by
Andrew T. Timberlake
;
Casey Griffin
;
Carrie L. Heike
;
Anne V. Hing
;
Michael L. Cunningham
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Open Access (DOAJ)
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7 . Academic Journal
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation
저자
by
Alison D. Archibald
;
Belinda J. McClaren
;
Jade Caruana
;
Erin Tutty
;
Emily A. King
, et al.
소스
Journal of Personalized Medicine, Vol 12, Iss 11, p 1781 (2022)
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7 . Academic Journal
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
저자
by
Sarah J. Beecroft
;
Kyle S. Yau
;
Richard J. N. Allcock
;
Kym Mina
;
Rebecca Gooding
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 7, Iss 3, Pp 353-362 (2020)
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7 . Academic Journal
High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report
저자
by
Aisling B. Mc Glacken-Byrne
;
David Prentice
;
Danial Roshandel
;
Michael R. Brown
;
Philip Tuch
, et al.
소스
BMC Ophthalmology, Vol 20, Iss 1, Pp 1-8 (2020)
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7 .
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34
저자
by
Masahiro Nishide
;
Kathleen Le Marquand
;
Mark R. Davis
;
Gábor M. Halmágyi
;
Avi Fellner
, et al.
소스
The Cerebellum
.
Open Access (OpenAIRE)
Scopus
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7 .
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy
저자
by
Chiara Folland
;
Russell Johnsen
;
Adriana Botero Gomez
;
Daniel Trajanoski
;
Mark R. Davis
, et al.
소스
Neuropathology and applied neurobiologyREFERENCES
. 48(7)
Scopus
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7 .
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
저자
by
Emma Tudini
;
James Andrews
;
David M. Lawrence
;
Sarah L. King-Smith
;
Naomi Baker
, et al.
소스
Am J Hum Genet
Full Text (ScienceDirect)
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Scopus
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7 .
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
저자
by
Igor Stevanovski
;
Sanjog R. Chintalaphani
;
Hasindu Gamaarachchi
;
James M. Ferguson
;
Sandy S. Pineda
, et al.
소스
Science Advances
. 8
Open Access (OpenAIRE)
Scopus
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7 .
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
저자
by
Adam M. Bournazos
;
Lisa G. Riley
;
Shobhana Bommireddipalli
;
Lesley Ades
;
Lauren S. Akesson
, et al.
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