Louise M. Christie

Newcastle, NSW 2298, Australia

Last Updated: 09/26/2026

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Found 12 publications

The Healthcare and Societal Costs of Familial Intellectual Disability.

The Healthcare and Societal Costs of Familial Intellectual Disability.

Journal: International journal of environmental research and public health

Published: November 24, 2023

Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.

Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.

Journal: Clinical genetics

Published: October 13, 2022

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.

Journal: Human mutation

Published: July 05, 2020

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.

Journal: Human molecular genetics

Published: June 28, 2018

Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility Study.

Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility Study.

Journal: International journal of neonatal screening

Published: November 17, 2017

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

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

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

Journal: European journal of medical genetics

Published: February 09, 2015

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

Journal: Journal of medical genetics

Published: January 24, 2015

Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.

Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.

Journal: Twin research and human genetics : the official journal of the International Society for Twin Studies

Published: November 29, 2014

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

Journal: European journal of human genetics : EJHG

Published: February 23, 2012

Maternal attitudes to newborn screening for fragile X syndrome.

Maternal attitudes to newborn screening for fragile X syndrome.

Journal: American journal of medical genetics. Part A

Published: February 15, 2012

Outcomes of a cystic fibrosis carrier testing clinic for couples.

Outcomes of a cystic fibrosis carrier testing clinic for couples.

Journal: The Medical journal of Australia

Published: January 26, 2009

Showing 1-12 of 12

Last Updated: 09/26/2026