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New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk

British journal of dermatology (1951), 2014-10, Vol.171 (4), p.861-867

2014

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Does the gene matter? Genotype–phenotype and genotype–outcome associations in congenital melanocytic naevi

British journal of dermatology (1951), 2020-02, Vol.182 (2), p.434-443

2020

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Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice

British journal of dermatology (1951), 2008-10, Vol.159 (4), p.907-914

2008

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Mutation-targeted siRNA therapy for connexin 26-associated keratitis-ichthyosis-deafness syndrome

Cytotherapy (Oxford, England), 2019-05, Vol.21 (5), p.e10-e10

2019

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Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.721-728

2020

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Melanoma in congenital melanocytic naevi

British journal of dermatology (1951), 2017-05, Vol.176 (5), p.1131-1143

2017

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Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseases

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.552-563

2020

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Professor John I. Harper MB, BS, MD, FRCP, FRCPCH; 1950–2021

British journal of dermatology (1951), 2021-09, Vol.185 (3), p.683-684

2021

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A mosaic variant in MAP2K1 is associated with giant naevus spilus‐type congenital melanocytic naevus and melanoma development

British journal of dermatology (1951), 2020-10, Vol.183 (4), p.760-761

2020

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The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics

British journal of dermatology (1951), 2017-05, Vol.176 (5), p.1385-1387

2017

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Sedation for screening MRI in patients with congenital melanocytic naevi under the age of one is a successful, safe and economical first‐line approach

British journal of dermatology (1951), 2019-03, Vol.180 (3), p.668-669

2019

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Uniparental disomy as a mechanism for CERS 3 ‐mutated autosomal recessive congenital ichthyosis

British journal of dermatology (1951), 2018-11, Vol.179 (5), p.1214-1215

2018

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Routine liver ultrasound screening does not alter clinical management in a cohort study of multiple cutaneous infantile haemangioma

British journal of dermatology (1951), 2021-02, Vol.184 (2), p.340-341

2021

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Does the gene matter? Genotype–phenotype and genotype–outcome associations in congenital melanocytic naevi

British journal of dermatology (1951), 2020-02, Vol.182 (2), p.434-443

2020

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Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome

British journal of dermatology (1951), 2015-09, Vol.173 (3), p.739-750

2015

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A mosaic variant in MAP 2K1 is associated with giant naevus spilus‐type congenital melanocytic naevus and melanoma development

British journal of dermatology (1951), 2020-10, Vol.183 (4), p.760-761

2020

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851 RNA therapy for congenital melanocytic naevi

Journal of investigative dermatology, 2023-05, Vol.143 (5), p.S146-S146

2023

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Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis

British journal of dermatology (1951), 2018-11, Vol.179 (5), p.1214-1215

2018

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478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome

Journal of investigative dermatology, 2017-05, Vol.137 (5), p.S82-S82

2017

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Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome

British journal of dermatology (1951), 2017-11, Vol.177 (5), p.e185-e186

2017

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808 Seizures in Sturge-Weber syndrome are associated with disrupted calcium metabolism

Journal of investigative dermatology, 2023-05, Vol.143 (5), p.S139-S139

2023

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皮肤镶嵌综述

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.e107-e107

2020

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A review of cutaneous mosaicism

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.e94-e94

2020

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Dermatological signs lead to discovery of mosaic ACTB variants in segmental odontomaxillary dysplasia

British journal of dermatology (1951), 2020-12, Vol.183 (6), p.1128-1130

2020

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Great Ormond Street Hospital for Children Registry for Congenital Melanocytic Naevi: prospective study 1988-2007. Part 1-epidemiology, phenotype and outcomes

British journal of dermatology (1951), 2009-01, Vol.160 (1), p.143-150

2009

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New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk

Does the gene matter? Genotype–phenotype and genotype–outcome associations in congenital melanocytic naevi

Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice

Mutation-targeted siRNA therapy for connexin 26-associated keratitis-ichthyosis-deafness syndrome

Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study

Melanoma in congenital melanocytic naevi

Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseases

Professor John I. Harper MB, BS, MD, FRCP, FRCPCH; 1950–2021

A mosaic variant in MAP2K1 is associated with giant naevus spilus‐type congenital melanocytic naevus and melanoma development

The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics

Sedation for screening MRI in patients with congenital melanocytic naevi under the age of one is a successful, safe and economical first‐line approach

Uniparental disomy as a mechanism for CERS 3 ‐mutated autosomal recessive congenital ichthyosis

Routine liver ultrasound screening does not alter clinical management in a cohort study of multiple cutaneous infantile haemangioma

Does the gene matter? Genotype–phenotype and genotype–outcome associations in congenital melanocytic naevi

Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome

A mosaic variant in MAP 2K1 is associated with giant naevus spilus‐type congenital melanocytic naevus and melanoma development

851 RNA therapy for congenital melanocytic naevi

Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis

478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome

Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome

808 Seizures in Sturge-Weber syndrome are associated with disrupted calcium metabolism

皮肤镶嵌综述

A review of cutaneous mosaicism

Dermatological signs lead to discovery of mosaic ACTB variants in segmental odontomaxillary dysplasia

Great Ormond Street Hospital for Children Registry for Congenital Melanocytic Naevi: prospective study 1988-2007. Part 1-epidemiology, phenotype and outcomes

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