S. Sandaradura

发表

G.O.2 Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

E. Bertini, K. Pelin, M. Lek, 2014, Neuromuscular Disorders.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Francesco Muntoni, Daniel G. MacArthur, Konrad J. Karczewski, 2016, Science Translational Medicine.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2018, Annals of neurology.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

Recent advances in nemaline myopathy

S. Sandaradura, N. Romero, N. Clarke, 2013, Current opinion in neurology.

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

Beryl B. Cummings, D. MacArthur, B. Cummings, 2018, Human mutation.

Molecular Genetics of Nemaline Myopathy

S. Sandaradura, K. North, 2012 .

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes

A. Righini, S. Goergen, M. Fahey, 2021, American Journal of Neuroradiology.

RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

W. Chung, C. Cytrynbaum, N. Brunetti‐Pierri, 2013, Human mutation.

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

S. Sandaradura, Meredith Wilson, Anand Vasudevan, 2020, Genetics in Medicine.

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

N. Brown, S. Sandaradura, T. Roscioli, 2020, JAMA.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

E. Hoffman, M. Tarnopolsky, S. Sandaradura, 2016, Journal of neuromuscular diseases.

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Jocelyn Laporte, Carol J. Saunders, K. Pelin, 2014, Human mutation.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2015, The Journal of clinical investigation.

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2021, Neurology: Genetics.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

J. Braithwaite, S. Sandaradura, Z. Stark, 2021, npj Genomic Medicine.

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

J. Braithwaite, S. Sandaradura, Meredith Wilson, 2021, npj Genomic Medicine.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

F. Muntoni, C. Brownstein, F. Alkuraya, 2013, American journal of human genetics.

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

H. Hakonarson, Yiran Guo, S. Sandaradura, 2023, Neurology: Genetics.

Clinically Responsive Genomic Analysis Pipelines: Elements to improve detection rate and efficiency.

S. Sandaradura, T. Roscioli, J. Fletcher, 2021, The Journal of molecular diagnostics : JMD.

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

D. MacArthur, E. Hoffman, M. Lek, 2016, Annals of neurology.

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

Joshua Burns, Daniel G. MacArthur, Khurshid Alam, 2017, npj Genomic Medicine.

Integrated multi-omics for rapid rare disease diagnosis on a national scale

S. Sandaradura, K. Kassahn, Meredith Wilson, 2023, Nature Medicine.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

D. Sillence, S. Robertson, M. Bahlo, 2018, American journal of human genetics.

University of Groningen Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH 3

D. Sillence, S. Robertson, M. Bahlo, 2018 .

Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency

H. Hakonarson, Yiran Guo, V. Fung, 2019, Neurology.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.