| 36322148 | A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism. | Hum Mol Genet | 2023 |
| 37621409 | <i>RFC1</i> in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics. | Brain Commun | 2023 |
| 37503746 | Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy. | Brain | 2023 |
| 37425777 | A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locus. | bioRxiv | 2023 |
| 37209493 | Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis. | Neuromuscul Disord | 2023 |
| 37198692 | Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications. | Genome Biol | 2023 |
| 37090937 | Novel <i>SERAC1</i> Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype: A Case Report. | Neurol Genet | 2023 |
| 36516086 | Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. | N Engl J Med | 2023 |
| 36868206 | Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. | Am J Hum Genet | 2023 |
| 36634413 | A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. | Neuromuscul Disord | 2023 |
| 36264506 | Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure. | Acta Neuropathol | 2023 |
| 34164833 | A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease. | Neuropathol Appl Neurobiol | 2022 |
| 35728440 | Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121CÂ >Â T (p.Arg39Ter) variant in the ACTA1 gene. | Stem Cell Res | 2022 |
| 35728439 | Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515CÂ >Â A (p.Ala172Glu) variant in the ACTA1 gene. | Stem Cell Res | 2022 |
| 35460079 | Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard. | J Inherit Metab Dis | 2022 |
| 35485770 | Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathy. | Hum Mutat | 2022 |
| 35810298 | Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. | Acta Neuropathol Commun | 2022 |
| 36579509 | The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation. | J Pers Med | 2022 |
| 35962550 | Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy. | Neuropathol Appl Neurobiol | 2022 |
| 36233295 | Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization. | Int J Mol Sci | 2022 |
| 35926322 | The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain. | Mol Genet Metab | 2022 |
| 36294838 | Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review. | J Pers Med | 2022 |
| 33907316 | Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia. | Eur J Hum Genet | 2022 |
| 35245110 | Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing. | Sci Adv | 2022 |
| 35168887 | Correspondence on "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Gregg et al. | Genet Med | 2022 |
| 32678339 | Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission"). | Eur J Hum Genet | 2021 |
| 33740643 | Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553CÂ >Â A (p.Arg183Ser) variant in the ACTA1 gene. | Stem Cell Res | 2021 |
| 33565183 | Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects. | Hum Mutat | 2021 |
| 33841129 | Novel <i><i>STMN2</i></i> Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype. | Front Aging Neurosci | 2021 |
| 34736628 | Genetic neuromuscular disorders: what is the best that we can do? | Neuromuscul Disord | 2021 |
| 34551826 | Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel. | Skelet Muscle | 2021 |
| 34388489 | Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene. | Stem Cell Res | 2021 |
| 34344887 | Haploinsufficiency of SF3B2 causes craniofacial microsomia. | Nat Commun | 2021 |
| 33288880 | Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3. | Genet Med | 2021 |
| 33060286 | Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. | J Med Genet | 2021 |
| 31511858 | Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease. | Hum Mol Genet | 2020 |
| 31774570 | International perspectives on the implementation of reproductive carrier screening. | Prenat Diagn | 2020 |
| 31952901 | Cylindrical spirals in two families: Clinical and genetic investigations. | Neuromuscul Disord | 2020 |
| 32040566 | Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. | Brain | 2020 |
| 32066503 | Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb. | Acta Neuropathol Commun | 2020 |
| 32093627 | High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report. | BMC Ophthalmol | 2020 |
| 33144514 | The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>. | Neurology | 2020 |
| 33103729 | A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families. | Brain | 2020 |
| 33004807 | Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. | Nat Commun | 2020 |
| 32997275 | The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders. | Mol Diagn Ther | 2020 |
| 32934225 | NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. | Nat Commun | 2020 |
| 32851396 | A MÄori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. | Brain | 2020 |
| 32819427 | Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy. | Acta Neuropathol Commun | 2020 |
| 32153140 | Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience. | Ann Clin Transl Neurol | 2020 |
| 32179706 | A homozygous <i>UBA5</i> pathogenic variant causes a fatal congenital neuropathy. | J Med Genet | 2020 |