Damien L. Bruno - Publications

Diagnostic application of kidney allograft-derived absolute cell-free DNA levels during transplant dysfunction.

Journal: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons

Published: May 27, 2018

Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 02, 2018

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 07, 2017

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 26, 2017

Use of ubiquitous, highly heterozygous copy number variants and digital droplet polymerase chain reaction to monitor chimerism after allogeneic haematopoietic stem cell transplantation.

Journal: Experimental hematology

Published: July 27, 2016

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.

Journal: Human mutation

Published: February 11, 2016

Minimal impact of maternal intravenous immunoglobulin infusion on cell-free DNA sequencing for fetal aneuploidy.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: October 21, 2015

Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy.

Journal: Prenatal diagnosis

Published: April 16, 2015

Use of copy number deletion polymorphisms to assess DNA chimerism.

Journal: Clinical chemistry

Published: June 06, 2014

Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery.

Journal: PloS one

Published: September 03, 2013

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

Journal: Human molecular genetics

Published: July 02, 2013

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

Journal: PLoS genetics

Published: June 28, 2013