Louise Carey

Sydney, NSW, Australia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 12 publications

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 13, 2023

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

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

Published: June 30, 2023

Bile acid permeation enhancement for inner ear cochlear drug pharmacological uptake: bio-nanotechnologies in chemotherapy-induced hearing loss.

Bile acid permeation enhancement for inner ear cochlear drug pharmacological uptake: bio-nanotechnologies in chemotherapy-induced hearing loss.

Journal: Therapeutic delivery

Published: November 11, 2021

The Effects of Accelerated Temperature-Controlled Stability Systems on the Release Profile of Primary Bile Acid-Based Delivery Microcapsules.

The Effects of Accelerated Temperature-Controlled Stability Systems on the Release Profile of Primary Bile Acid-Based Delivery Microcapsules.

Journal: Pharmaceutics

Published: August 26, 2021

Pharmacological and Biological Study of Microencapsulated Probucol-Secondary Bile Acid in a Diseased Mouse Model.

Pharmacological and Biological Study of Microencapsulated Probucol-Secondary Bile Acid in a Diseased Mouse Model.

Journal: Pharmaceutics

Published: July 15, 2021

The Effects of Primary Unconjugated Bile Acids on Nanoencapsulated Pharmaceutical Formulation of Hydrophilic Drugs: Pharmacological Implications.

The Effects of Primary Unconjugated Bile Acids on Nanoencapsulated Pharmaceutical Formulation of Hydrophilic Drugs: Pharmacological Implications.

Journal: Drug design, development and therapy

Published: July 08, 2021

Concurrent maternal malignancy and fetal trisomy detected using genome-wide noninvasive prenatal screening.

Concurrent maternal malignancy and fetal trisomy detected using genome-wide noninvasive prenatal screening.

Journal: Prenatal diagnosis

Published: January 20, 2021

Validation of a Chromosomal Microarray for Prenatal Diagnosis Using a Prospective Cohort of Pregnancies with Increased Risk for Chromosome Abnormalities.

Validation of a Chromosomal Microarray for Prenatal Diagnosis Using a Prospective Cohort of Pregnancies with Increased Risk for Chromosome Abnormalities.

Journal: Genetic testing and molecular biomarkers

Published: October 01, 2016

Molecular genetic studies of complete hydatidiform moles.

Molecular genetic studies of complete hydatidiform moles.

Journal: Translational pediatrics

Published: February 03, 2016

Proteogenomic Analysis Identifies a Novel Human SHANK3 Isoform.

Proteogenomic Analysis Identifies a Novel Human SHANK3 Isoform.

Journal: International journal of molecular sciences

Published: January 15, 2015

Prenatal diagnosis of chromosomal mosaicism in over 1600 cases using array comparative genomic hybridization as a first line test.

Prenatal diagnosis of chromosomal mosaicism in over 1600 cases using array comparative genomic hybridization as a first line test.

Journal: Prenatal diagnosis

Published: September 05, 2013

Identification of a jumping translocation following pre-implantation genetic diagnosis.

Identification of a jumping translocation following pre-implantation genetic diagnosis.

Journal: American journal of medical genetics. Part A

Published: April 01, 2013

Showing 1-12 of 12

Last Updated: 09/26/2026