Publications by authors named "George Elakis"

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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Kerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, Carey-Anne Evans, Emily O'Heir, George Elakis

Genet Med· May 2024

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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Lisa J Ewans, Andre E Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, George Elakis

Eur J Hum Genet· October 2022

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Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
Stefano Vavassori, Janet Chou, Laura Eva Faletti, Veronika Haunerdinger, Lennart Opitz, George Elakis

J Allergy Clin Immunol· August 2021

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Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.
Samantha Leigh Sundercombe, Marina Berbic, Carey-Anne Evans, Corrina Cliffe, George Elakis

J Mol Diagn· July 2021

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

JAMA· June 2020

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Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
Alan Ma, Sunita Gurnasinghani, Edwin P Kirk, Conor McClenaghan, Gautam K Singh, George Elakis

Am J Med Genet A· August 2019

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Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Edwin P Kirk, Kristine Barlow-Stewart, Arthavan Selvanathan, Sarah Josephi-Taylor, Lisa Worgan, George Elakis

Genet Med· March 2019

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A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Eric Lee, Trang Le, Ying Zhu, George Elakis, Anne Turner

Genet Med· September 2018

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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Elizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, Tejaswi Kandula, Rebecca Macintosh, George Elakis

Mol Genet Genomic Med· March 2018

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Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
Elizabeth E Palmer, Kelsey E Jarrett, Rani K Sachdev, Fatema Al Zahrani, Mais Omar Hashem, George Elakis

Hum Mol Genet· July 2016

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Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
Paul A James, Bronwyn Culling, Glenda Mullan, Mark Jenkins, George Elakis

Genes Chromosomes Cancer· July 2009

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Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation.
Lucinda Freeman, George Elakis, Geoff Watson, Glenda L Mullan, Peter J Taylor

Clin Dysmorphol· July 2008

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Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
Andreas Zankl, George Elakis, Rachel D Susman, Garry Inglis, Glenn Gardener

Am J Med Genet A· January 2008

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Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
Peter J Taylor, Sarah Maroulis, Glenda L Mullan, Robyn L Pedersen, Aurora Baumli, George Elakis

J Med Genet· June 2007

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Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.
Peter J Anderson, Timothy C Cox, Tony Roscioli, George Elakis, Lisa Smithers

J Craniofac Surg· March 2007

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A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
Julie McGaughran, Stephen Sinnott, Rachel Susman, Michael F Buckley, George Elakis

Clin Dysmorphol· April 2006

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