Publications by authors named "Mark R Davis"

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Diagnosis of Australasian Patients with Neuromuscular Disease: Insights from a Comprehensive Panel Approach.
Carolin K Scriba, Fathimath Faiz, Michael Black, Rebecca Gooding, Padma Sivadorai, Mark R Davis

J Mol Diagn· July 2025

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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Sandra Coppens, Nicolas Deconinck, Patricia Sullivan, Andrei Smolnikov, Joshua S Clayton, Mark R Davis

Ann Neurol· April 2025

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Nationwide, Couple-Based Genetic Carrier Screening.
Edwin P Kirk, Martin B Delatycki, Alison D Archibald, Erin Tutty, Jade Caruana, Mark R Davis

N Engl J Med· November 2024

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Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Mark R Davis

Nat Commun· October 2024

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Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones, Gina Ravenscroft, Franclo Henning, Mark R Davis

Clin Genet· July 2024

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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Mark R Davis

Nat Commun· July 2024

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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, Anita Cairns, Katherine R Chao, Mark R Davis

Ann Clin Transl Neurol· May 2024

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Pathogenic variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A McLean, Mark R Davis

Sci Transl Med· April 2024

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Mark R Davis

Nat Genet· March 2024

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Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
Masahiro Nishide, Kathleen Le Marquand, Mark R Davis, Gábor M Halmágyi, Avi Fellner

Cerebellum· February 2024

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in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Carolin K Scriba, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Roula Ghaoui, Mark R Davis

Brain Commun· July 2023

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A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Lein N H Dofash, Gavin V Monahan, Emilia Servián-Morilla, Eloy Rivas, Fathimath Faiz, Mark R Davis

Hum Mol Genet· March 2023

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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.
Pedro M Rodríguez Cruz, Gianina Ravenscroft, Daniel Natera, Aisling Carr, Adnan Manzur, Mark R Davis

Neuromuscul Disord· February 2023

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Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Chiara Folland, Russell Johnsen, Adriana Botero Gomez, Daniel Trajanoski, Mark R Davis

Neuropathol Appl Neurobiol· December 2022

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Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mark R Davis

Brain· November 2022

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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Emma Tudini, James Andrews, David M Lawrence, Sarah L King-Smith, Naomi Baker, Mark R Davis

Am J Hum Genet· November 2022

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The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
Alison D Archibald, Belinda J McClaren, Jade Caruana, Erin Tutty, Emily A King, Mark R Davis

J Pers Med· October 2022

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Retrospective analysis of mortality within 30 days of systemic anticancer therapy and comparison with a previous audit at an Australian Regional Cancer Centre.
Bernadatte Zimbwa, Peter J Gilbar, Mark R Davis, Srinivas Kondalsamy-Chennakesavan

J Oncol Pharm Pract· July 2022

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Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, James M Ferguson, Sandy S Pineda, Mark R Davis

Sci Adv· March 2022

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A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease.
Edoardo Malfatti, Tara Catchpool, Sonia Nouioua, Hellal Sihem, Emmanuel Fournier, Mark R Davis

Neuropathol Appl Neurobiol· February 2022

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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mark R Davis

Genet Med· January 2022

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Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Andrew T Timberlake, Casey Griffin, Carrie L Heike, Anne V Hing, Michael L Cunningham, Mark R Davis

Nat Commun· August 2021

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WGS and RNA Studies Diagnose Noncoding Variants in Males With High Creatine Kinase.
Leigh B Waddell, Samantha J Bryen, Beryl B Cummings, Adam Bournazos, Frances J Evesson, Mark R Davis

Neurol Genet· February 2021

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Dosing of PD-1 and PD-L1 inhibitors: Cost saving initiatives for significantly decreasing associated expenditure.
Peter J Gilbar, Mark R Davis

J Oncol Pharm Pract· January 2021

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A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Carolin K Scriba, Sarah J Beecroft, Joshua S Clayton, Andrea Cortese, Roisin Sullivan, Mark R Davis

Brain· October 2020

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