List of works - Matthew Edwards

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

scientific article published on 12 September 2016

A familial 7q36.3 duplication associated with agenesis of the corpus callosum.

scientific article published on 5 May 2015

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family

scientific article published in February 2009

A warning about tuberculosis.

scientific article

Agnathia (severe microghathia), aglossia and choanal atresia in an infant ⬇️

scientific article published on 01 August 1995

Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1

scientific article published on 01 October 1994

Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092)

scientific article published on 03 February 2020

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

scientific article published on 18 February 2015

Engagement of undergraduate medical students of paediatrics in special schools for children with disabilities.

scientific article published on 12 February 2015

Evaluation of satisfaction of parents with the use of videoconferencing for a pediatric genetic consultation

scientific article published on 01 August 2011

GDF5 is a second locus for multiple-synostosis syndrome.

scientific article

Genetic selection of embryos that later develop the metabolic syndrome.

scientific article published on 19 February 2012

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

scientific article published on 11 October 2013

Hypertrichosis "cubiti" with facial asymmetry

scientific article published on 01 October 1994

Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby

scientific article published on 31 January 2015

Kawasaki disease in Campbelltown, a suburban hospital

scientific article published on 01 April 2015

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

scientific article

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

article

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism

article

Mutations in KCTD1 cause scalp-ear-nipple syndrome

scientific article

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

scientific article published on 15 October 2020

Nevoid hypertrichosis with multiple patches of hair that underwent almost complete spontaneous resolution

scientific article published on 01 September 1998

OA1 Mutations and Deletions in X-Linked Ocular Albinism ⬇️

scientific article published on April 1, 1998

Paediatric hospitalisations for lower respiratory tract infections in Mount Isa.

scientific article published on June 2014

Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

scientific article published on 01 September 2007

Premature arthritis is a distinct type II collagen phenotype.

scientific article published on May 2010

Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops

scientific article published on 01 October 2006

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.

scientific article published on 30 July 2015

Ten-year review of Henoch-Schonlein purpura in Campbelltown Hospital, south-western Sydney

scientific article published on 01 October 2014

The adult phenotype in Costello syndrome.

scientific article published in July 2005

The impact of Huntington's disease on family life.

scientific article published in September 2007

The natural history and osteodystrophy of mucolipidosis types II and III

scientific article

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

article

List of works by Matthew Edwards

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

A familial 7q36.3 duplication associated with agenesis of the corpus callosum.

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family

A warning about tuberculosis.

Agnathia (severe microghathia), aglossia and choanal atresia in an infant ⬇️

Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1

Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092)

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

Engagement of undergraduate medical students of paediatrics in special schools for children with disabilities.

Evaluation of satisfaction of parents with the use of videoconferencing for a pediatric genetic consultation

GDF5 is a second locus for multiple-synostosis syndrome.

Genetic selection of embryos that later develop the metabolic syndrome.

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Hypertrichosis "cubiti" with facial asymmetry

Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby

Kawasaki disease in Campbelltown, a suburban hospital

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism

Mutations in KCTD1 cause scalp-ear-nipple syndrome

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Nevoid hypertrichosis with multiple patches of hair that underwent almost complete spontaneous resolution

OA1 Mutations and Deletions in X-Linked Ocular Albinism ⬇️

Paediatric hospitalisations for lower respiratory tract infections in Mount Isa.

Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

Premature arthritis is a distinct type II collagen phenotype.

Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.

Ten-year review of Henoch-Schonlein purpura in Campbelltown Hospital, south-western Sydney

The adult phenotype in Costello syndrome.

The impact of Huntington's disease on family life.

The natural history and osteodystrophy of mucolipidosis types II and III

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)