Get started
Author

Fathimath Faiz

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
2021 · Adam M. Bournazos, Lisa G. Riley, et al. · Genetics in Medicine · 99
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
2020 · Gina Ravenscroft, Joshua S Clayton, et al. · Journal of Medical Genetics · 77
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
2020 · Sarah J. Beecroft, Kyle S. Yau, et al. · Annals of Clinical and Translational Neurology · 49
Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
2019 · Samantha J. Bryen, Lisa J. Ewans, et al. · Human Mutation · 43
PDF
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
2021 · Leigh B. Waddell, Samantha J. Bryen, et al. · Neurology Genetics · 31
PDF
Variants in ACTG 2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction
2018 · G. Ravenscroft, S. Pannell, et al. · Neurogastroenterology & Motility · 28
PDF
Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing
2013 · Fathimath Faiz, Richard J. Allcock, et al. · Atherosclerosis · 23
Molecular pathology of familial hypercholesterolemia, related dyslipidemias and therapies beyond the statins
2012 · Fathimath Faiz, Amanda J. Hooper, et al. · Critical Reviews in Clinical Laboratory Sciences · 21
Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.( Leu1877Pro ) mutation in MYH2
2014 · M. Cabrera‐Serrano, V.A. Fabian, et al. · Clinical Genetics · 20
A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
2022 · Lein N H Dofash, Gavin V Monahan, et al. · Human Molecular Genetics · 17
PDF
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate
2020 · Lauren S. Akesson, Adam Bournazos, et al. · Human Mutation · 12
PDF
Smad2:A Candidate Gene for the Murine Autoimmune Diabetes LocusIdd21.1
2011 · Sarah M. Hook, Amanda J. Phipps-Green, et al. · The Journal of Clinical Endocrinology & Metabolism · 7
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
2025 · Sandra Coppens, Nicolas Deconinck, et al. · Annals of Neurology · 4
Congenital Myopathies – Nemaline Myopathies
2021 · L. Dofash, F. Faiz, et al. · Neuromuscular Disorders · 2
Diagnosis of Australasian Patients with Neuromuscular Disease
2025 · Carolin K. Scriba, Fathimath Faiz, et al. · Journal of Molecular Diagnostics · 1
P.231Paternal uniparental disomy of chromosome 19 unmasking a recessive variant in RYR1 in a case of congenital core myopathy with additional features
2019 · M. Davis, F. Faiz, et al. · Neuromuscular Disorders · 1
Genetic screening to improve the diagnosis of familial hypercholesterolemia
2014 · Fathimath Faiz, Lan T Nguyen, et al. · Clinical Lipidology · 1
Molecular characterization of a Chinese woman homozygous for the familial hypercholesterolemia LDLR c.1474G>A (p.Asp492Asn) mutation
2014 · Fathimath Faiz, Miao Hu, et al. · Clinical Lipidology · 1
Application of Next Generation Technologies
2021 · C. Scriba, F. Faiz, et al. · Neuromuscular Disorders
O.16Diagnosis of fetal akinesia and arthrogryposis by panel sequencing and functional genomics
2019 · G. Ravenscroft, J. Clayton, et al. · Neuromuscular Disorders
Molecular investigation of familial hypercholesterolaemia: from gene to genome
2014 · Fathimath Faiz · UWA Profiles and Research Repository (University of Western Australia)
Works count: 22
Citation count: 536
H-index: 12
I10-index: 12
Year
Topic
Type