Publications by authors named "Rebecca Gooding"

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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

J Mol Diagn· July 2025

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Anxiety and depression in a sample of UK college students: a study of prevalence, comorbidity, and quality of life.
Paul E Jenkins, Imogen Ducker, Rebecca Gooding, Megan James, Emily Rutter-Eley

J Am Coll Health· February 2022

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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, Rebecca Gooding

Neurol Genet· February 2021

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Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Sarah J Beecroft, Kyle S Yau, Richard J N Allcock, Kym Mina, Rebecca Gooding

Ann Clin Transl Neurol· March 2020

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Recessive MYH7-related myopathy in two families.
Sarah J Beecroft, Martijn van de Locht, Josine M de Winter, Coen A Ottenheijm, Caroline A Sewry, Rebecca Gooding

Neuromuscul Disord· June 2019

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Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy.
Gerald F Reis, Grant de la Motte, Rebecca Gooding, Nigel G Laing, Marta Margeta

Neuropathology· December 2015

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A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.
Rachael M Duff, Anne-Marie J Shearwood, Judith Ermer, Giulia Rossetti, Rebecca Gooding

Mitochondrion· November 2015

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Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan, Ana M Meireles, Kevin J Paavola, Rebecca Gooding

Am J Hum Genet· June 2015

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Quantifying the Effects of Predator and Prey Body Size on Sea Star Feeding Behaviors.
Rebecca A Gooding, Christopher D G Harley

Biol Bull· June 2015

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Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Phillipa J Lamont, William Wallefeld, David Hilton-Jones, Bjarne Udd, Zohar Argov, Rebecca Gooding

Hum Mutat· July 2014

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Elevated water temperature and carbon dioxide concentration increase the growth of a keystone echinoderm.
Rebecca A Gooding, Christopher D G Harley, Emily Tang

Proc Natl Acad Sci U S A· June 2009

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Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.
Sotiria D Mastroyianni, Anastasia Garoufi, Konstantinos Voudris, Angeliki Skardoutsou, Constantinos J Stefanidis, Rebecca Gooding

Eur J Pediatr· July 2007

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[Congenital cataracts facial dysmorphism neuropathy syndrome--first Hungarian case report].
Eva Siska, Magdolna Neuwirth, Gooding Rebecca, Mária Judit Molnár

Ideggyogy Sz· May 2007

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Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.
Jaume Colomer, Rebecca Gooding, Dora Angelicheva, Rosalind H M King, Encarna Guillén-Navarro

Neuromuscul Disord· July 2006

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Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population.
Ivanka Sinigerska, David Chandler, Vijesh Vaghjiani, Irfet Hassanova, Rebecca Gooding

Mol Genet Metab· May 2006

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Mutation history of the roma/gypsies.
Bharti Morar, David Gresham, Dora Angelicheva, Ivailo Tournev, Rebecca Gooding

Am J Hum Genet· October 2004

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Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.
Andrea Müllner-Eidenböck, Elisabeth Moser, Nina Klebermass, Michael Amon, Maggie C Walter, Rebecca Gooding

Ophthalmology· July 2004

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Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Raymonda Varon, Rebecca Gooding, Christina Steglich, Lorna Marns, Hua Tang

Nat Genet· October 2003

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