P. Dopping-Hepenstal

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Transient bullous dermolysis of the newborn in three generations

J. McGrath, H. Fassihi, V. Wessagowit, 2005, The British journal of dermatology.

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience

K. Nicolaides, C. Rodeck, K. Nicolaides, 2006, The British journal of dermatology.

The composition of wide-spaced collagen in normal and diseased Descemet's membrane.

J. Moss, H. Sawada, P. Dopping-Hepenstal, 1996, Current eye research.

Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.

D. Kelsell, I. Leigh, C. Munro, 2001, The Journal of investigative dermatology.

A keratin 14 ‘knockout’ mutation in recessive epidermolysis bullosa simplex resulting in less severe disease

E. Lane, R. Eady, N. West, 2000, The British journal of dermatology.

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

E. Lane, T. Strachan, I. Leigh, 1995, Nature Genetics.

Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis

J. McGrath, D. J. Fu, D. Lunny, 2013, The Journal of investigative dermatology.

Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.

J. McGrath, M. Parsons, J. Mellerio, 2012, The Journal of investigative dermatology.

A functional "knockout" of human keratin 14.

E. Lane, J. R. McMillan, I. Leigh, 1994, Genes & development.

Limitation of substratum size alters cytoskeletal organization and behaviour of Swiss 3T3 fibroblasts.

C. O'neill, P. Jordan, P. Dopping-Hepenstal, 1989, Cell biology international reports.

Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair

J. McGrath, N. Wilson, C. Moss, 2012, The British journal of dermatology.

Descemet's membrane in the iridocorneal-endothelial syndrome: morphology and composition.

J. Moss, H. Sawada, R. Alexander, 1995, Experimental eye research.

Ultrastructural features of the osteoid of patients with fibrogenesis imperfecta ossium.

J. Ralphs, P. Dopping-Hepenstal, S. Ali, 1989, Bone.

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

J. McGrath, H. Markus, T. Hashimoto, 2010, The Journal of investigative dermatology.

Autosomal dominant junctional epidermolysis bullosa

J. McGrath, R. Graham, J. Mellerio, 2009, The British journal of dermatology.

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

Jonathan E. Moore, J. McGrath, C. Munro, 2003, Human molecular genetics.

Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.

H. Iizuka, C. Munro, R. Eady, 1997, The Journal of investigative dermatology.

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

D. Kelsell, E. Sprecher, C. Mein, 2005, American journal of human genetics.

Transmission Microscopy for the Diagnosis of Epidermolysis Bullosa

R. Eady, P. Dopping-Hepenstal, 2010 .

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

E. Lane, J. R. McMillan, I. Leigh, 1994, The Journal of investigative dermatology.

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

D. Kelsell, H. Hennies, I. Leigh, 2001, European Journal of Human Genetics.

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

J. McGrath, N. Whittock, R. Eady, 2002, The Journal of investigative dermatology.

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

G. Barton, M. Akiyama, H. Shimizu, 2012, Nature Genetics.

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

M. Ramsay, T. Jenkins, J. McGrath, 2002, Human molecular genetics.

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability

J. McGrath, I. Leigh, R. Eady, 2003, Journal of Cell Science.

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

M. Simpson, J. R. McMillan, J. McGrath, 2012, American journal of human genetics.

Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.

D. Kelsell, I. Leigh, R. Eady, 1999, The Journal of investigative dermatology.

Effect of Patterned Surfaces of Adhesive Islands on the Shape, Cytoskeleton, Adhesion and Behaviour of Swiss Mouse 3T3 Fibroblasts

C. O'neill, P. Jordan, P. Dopping-Hepenstal, 1987, Journal of Cell Science.

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.

J. McGrath, N. Whittock, R. Eady, 1999, The Journal of investigative dermatology.

The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.

M. Simpson, P. Itin, J. McGrath, 2014, The Journal of investigative dermatology.

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

M. Simpson, J. McGrath, J. Mellerio, 2012, American journal of human genetics.

Categorizing immunofluorescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator

J. McGrath, J. Frew, P. Dopping-Hepenstal, 2010, The Australasian journal of dermatology.