Publications by authors named "Damien Bruno"

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Diagnostic application of kidney allograft-derived absolute cell-free DNA levels during transplant dysfunction.
John B Whitlam, Ling Ling, Alison Skene, John Kanellis, Francseco L Ierino, Damien L Bruno

Am J Transplant· April 2019

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FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.
Claudine M Kraan, Quang M Bui, Mike Field, Alison D Archibald, Sylvia A Metcalfe, Damien Bruno

Genet Med· December 2018

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Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Damien Bruno

Genet Med· November 2018

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Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Damien Bruno

Genet Med· April 2018

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Use of ubiquitous, highly heterozygous copy number variants and digital droplet polymerase chain reaction to monitor chimerism after allogeneic haematopoietic stem cell transplantation.
John B Whitlam, Ling Ling, Michael Swain, Tom Harrington, Oksana Mirochnik, Damien L Bruno

Exp Hematol· May 2017

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Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Christopher P Barnett, Nathalie J Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Damien L Bruno

Hum Mutat· September 2016

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Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy.
Nicola Flowers, Joanne Kelley, Styrmir Sigurjonsson, Damien L Bruno, Mark D Pertile

Prenat Diagn· October 2015

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Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery.
Dineika Chandrananda, Natalie P Thorne, Devika Ganesamoorthy, Damien L Bruno, Yuval Benjamini

PLoS One· September 2014

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Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
Elena J Tucker, Bas F J Wanschers, Radek Szklarczyk, Hayley S Mountford, Xiaonan W Wijeyeratne, Damien L Bruno

PLoS Genet· August 2014

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Use of copy number deletion polymorphisms to assess DNA chimerism.
Damien L Bruno, Devika Ganesamoorthy, Natalie P Thorne, Ling Ling, Melanie Bahlo

Clin Chem· August 2014

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Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
Trent Burgess, Natasha J Brown, Zornitza Stark, Damien L Bruno, Ralph Oertel

Am J Med Genet A· January 2014

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Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Sze Chern Lim, Martin Friemel, Justine E Marum, Elena J Tucker, Damien L Bruno

Hum Mol Genet· November 2013

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High resolution chromosomal microarray in undiagnosed neurological disorders.
Katherine B Howell, Andrew J Kornberg, A Simon Harvey, Monique M Ryan, Mark T Mackay, Damien L Bruno

J Paediatr Child Health· September 2013

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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Frédérique Béna, Damien L Bruno, Mats Eriksson, Conny van Ravenswaaij-Arts, Zornitza Stark

Am J Med Genet B Neuropsychiatr Genet· June 2013

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Sarah E Calvo, Alison G Compton, Steven G Hershman, Sze Chern Lim, Daniel S Lieber, Damien L Bruno

Sci Transl Med· January 2012

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Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.
Damien L Bruno, Zornitza Stark, David J Amor, Trent Burgess, Kathy Butler

Hum Mutat· December 2011

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Phenotypic variability of distal 22q11.2 copy number abnormalities.
Tiong Yang Tan, Amanda Collins, Paul A James, George McGillivray, Zornitza Stark, Damien L Bruno

Am J Med Genet A· July 2011

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De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features.
Zornitza Stark, Damien L Bruno, Hayley Mountford, Paul J Lockhart, David J Amor

Eur J Med Genet· January 2011

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Identification of SOX3 as an XX male sex reversal gene in mice and humans.
Edwina Sutton, James Hughes, Stefan White, Ryohei Sekido, Jacqueline Tan, Damien Bruno

J Clin Invest· January 2011

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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Sarah E Calvo, Elena J Tucker, Alison G Compton, Denise M Kirby, Gabriel Crawford, Damien L Bruno

Nat Genet· October 2010

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Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.
Zornitza Stark, Monique M Ryan, Damien L Bruno, Trent Burgess, Ravi Savarirayan

Am J Med Genet A· September 2010

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A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
Ryan N Traylor, Damien L Bruno, Trent Burgess, Robert Wildin, Anne Spencer

PLoS One· August 2010

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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Damien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, Conny van Ravenswaaij-Arts, Devika Ganesamoorthy

J Med Genet· May 2010

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Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1).
David Coman, Joy Yaplito-Lee, Phung La, Steven Nasioulas, Damien Bruno

Mol Genet Metab· March 2010

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4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.
Alison Yeung, Damien Bruno, Ingrid E Scheffer, Daniel Carranza, Trent Burgess

Eur J Med Genet· February 2010

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