Publications by authors named "Felicity Collins"

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Assessing the unmet needs of genomic testing in Australia: a geospatial exploration.
Sarah Casauria, Felicity Collins, Susan M White, Paul Konings, Mathew Wallis

Eur J Hum Genet· April 2025

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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Felicity Collins

Brain· August 2023

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DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with / variants.
Niels Vos, Jack Reilly, Mariet W Elting, Philippe M Campeau, David Coman, Felicity Collins

Epigenomics· March 2023

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Felicity Collins

Mol Psychiatry· February 2023

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A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease.
Stephanie Best, Nada Vidic, Kim An, Felicity Collins, Susan M White

Eur J Hum Genet· June 2022

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The prevalence and impact of orthostatic intolerance in young women across the hypermobility spectrum.
Karen C Peebles, Isabella Tan, Mark Butlin, Felicity Collins, Louise Tofts

Am J Med Genet A· June 2022

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Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Gina Ravenscroft, Joshua S Clayton, Fathimath Faiz, Padma Sivadorai, Di Milnes, Felicity Collins

J Med Genet· September 2021

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Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
Nicole J Van Bergen, Syed Mukhtar Ahmed, Felicity Collins, Mark Cowley, Annalisa Vetro

J Exp Med· October 2020

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Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Mariska Davids, Minal Menezes, Yiran Guo, Scott D McLean, Hakon Hakonarson, Felicity Collins

Mol Genet Metab· May 2020

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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Felicity Collins

Brain· January 2020

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Felicity Collins

Genet Med· April 2019

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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Felicity Collins

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, Felicity Collins

Genet Med· September 2018

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Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Felicity Collins

Clin Epigenetics· August 2018

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Growth charts for Australian children with achondroplasia.
Louise Tofts, Sandeep Das, Felicity Collins, Karen L O Burton

Am J Med Genet A· August 2017

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NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Hongjun Shi, Annabelle Enriquez, Melissa Rapadas, Ella M M A Martin, Roni Wang, Felicity Collins

N Engl J Med· August 2017

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Joint hypermobility syndrome: a review for clinicians.
Verity Pacey, Louise Tofts, Alison Wesley, Felicity Collins, Davinder Singh-Grewal

J Paediatr Child Health· April 2015

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Detection of chromosomal breakpoints in patients with developmental delay and speech disorders.
Kagistia H Utami, Axel M Hillmer, Irene Aksoy, Elaine G Y Chew, Audrey S M Teo, Felicity Collins

PLoS One· February 2015

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Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
Martin B Delatycki, Jo Burke, Louise Christie, Felicity Collins, Michael Gabbett

Twin Res Hum Genet· December 2014

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RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Nicole Revencu, Laurence M Boon, Antonella Mendola, Maria Rosa Cordisco, Josée Dubois, Felicity Collins

Hum Mutat· December 2013

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Update on the investigation of children with delayed development.
Natalie Silove, Felicity Collins, Carolyn Ellaway

J Paediatr Child Health· July 2013

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14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
Carolyn J Ellaway, Gladys Ho, Elisa Bettella, Alisa Knapman, Felicity Collins

Eur J Hum Genet· May 2013

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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A Bizet, Felicity Collins

Am J Hum Genet· May 2012

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Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Philip B Daniel, Tim Morgan, Yasemin Alanay, Emilia Bijlsma, Tae-Joon Cho, Felicity Collins

Hum Mutat· April 2012

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NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
Joyce El Hokayem, Céline Huber, Adeline Couvé, Jacqueline Aziza, Geneviève Baujat, Felicity A Collins

J Med Genet· April 2012

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