A. Colley

发表

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

E. Haan, F. Muntoni, N. Laing, 2003, Neuromuscular Disorders.

Novel (ovario) leukodystrophy related to AARS2 mutations

A. Vanderver, R. Schiffmann, T. Meitinger, 2014, Neurology.

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

James N. Hughes, D. Sillence, M. Brown, 2017, The New England journal of medicine.

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

D. Sillence, J. Mulley, Meredith Wilson, 1995, Journal of medical genetics.

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

J. Gécz, D. Sillence, J. Mulley, 1999, Nature Genetics.

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.

Andrew B. Kirke, A. Keech, H. White, 2020, Heart, lung & circulation.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

N. Laing, T. Roscioli, Meredith Wilson, 2020, European Journal of Human Genetics.

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM

K. Friend, V. Fung, R. Richards, 1999, Human Genetics.

Gene localization for an autosomal dominant familial periodic fever to 12p13.

D. Sillence, J. Mulley, F. Rüschendorf, 1998, American journal of human genetics.

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.

K. Friend, V. Fung, R. Richards, 1999 .

A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia

A. Donnelly, J. Mulley, D. Crimmins, 1996, Human mutation.

Histopathology and fibrillin‐1 distribution in severe early onset Marfan syndrome

L. Adès, C. Whight, M. Nataatmadja, 2005, American journal of medical genetics. Part A.