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The Genetics of Human Skin and Hair Pigmentation

Annual review of genomics and human genetics, 2019-08, Vol.20 (1), p.41-72

2019

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Molecular genetics of human pigmentation diversity

Human molecular genetics, 2009-04, Vol.18 (R1), p.R9-R17

Sturm, Richard A.

2009

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Characterization of the Melanoma miRNAome by Deep Sequencing

PloS one, 2010-03, Vol.5 (3), p.e9685-e9685

2010

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Genetics of human iris colour and patterns

Pigment cell and melanoma research, 2009-10, Vol.22 (5), p.544-562

2009

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Sun-induced freckling: ephelides and solar lentigines

Pigment cell and melanoma research, 2014-05, Vol.27 (3), p.339-350

2014

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BRN2, a POUerful driver of melanoma phenotype switching and metastasis

Pigment cell and melanoma research, 2019-01, Vol.32 (1), p.9-24

2019

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Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants

PloS one, 2020-09, Vol.15 (9), p.e0238529-e0238529

2020

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A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

American journal of human genetics, 2008-02, Vol.82 (2), p.424-431

2008

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Automated Detection of Pigmented Iris Freckles Using a Deep Neural Network for Cutaneous Melanoma Risk

Journal of investigative dermatology, 2024-05

2024

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Whole-Exome Sequencing of Acquired Nevi Identifies Mechanisms for Development and Maintenance of Benign Neoplasms

Journal of investigative dermatology, 2018-07, Vol.138 (7), p.1636-1644

2018

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The NR4A2 nuclear receptor is recruited to novel nuclear foci in response to UV irradiation and participates in nucleotide excision repair

PloS one, 2013-11, Vol.8 (11), p.e78075

2013

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A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation

American journal of human genetics, 2007-02, Vol.80 (2), p.241-252

2007

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TLR3 drives IRF6‐dependent IL‐23p19 expression and p19/EBI3 heterodimer formation in keratinocytes

Immunology and cell biology, 2015-10, Vol.93 (9), p.771-779

2015

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Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European

Nature (London), 2014-03, Vol.507 (7491), p.225-228

2014

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Classifying dermoscopic patterns of naevi in a case-control study of melanoma

PloS one, 2017-10, Vol.12 (10), p.e0186647-e0186647

2017

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Genome-Scale DNA Methylation Analysis Identifies Repeat Element Alterations that Modulate the Genomic Stability of Melanocytic Nevi

Journal of investigative dermatology, 2022-07, Vol.142 (7), p.1893-1902.e7

2022

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The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence

International journal of molecular sciences, 2024-02, Vol.25 (3), p.1664

2024

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POT1 and multiple primary melanomas: the dermatological phenotype

Journal of medical genetics, 2024-09, Vol.61 (9), p.891-894

2024

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Brn-2 Represses Microphthalmia-Associated Transcription Factor Expression and Marks a Distinct Subpopulation of Microphthalmia-Associated Transcription Factor-Negative Melanoma Cells

Cancer research (Chicago, Ill.), 2008-10, Vol.68 (19), p.7788-7794

2008

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Multiple Pigmentation Gene Polymorphisms Account for a Substantial Proportion of Risk of Cutaneous Malignant Melanoma

Journal of investigative dermatology, 2010-02, Vol.130 (2), p.520-528

2010

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Melanoma mutations modify melanocyte dynamics in co-culture with keratinocytes or fibroblasts

Journal of cell science, 2019-12, Vol.132 (24)

2019

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Assessing the genetic risk of nodular melanoma using a candidate gene approach

British journal of dermatology (1951), 2024-01, Vol.190 (2), p.199-206

2024

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GOLM1 : expanding our understanding of melanoma susceptibility

Journal of medical genetics, 2023-09, Vol.60 (9), p.835-837

2023

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Mutation Signatures in Melanocytic Nevi Reveal Characteristics of Defective DNA Repair

Journal of investigative dermatology, 2020-10, Vol.140 (10), p.2093-2096.e2

2020

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The Genetics of Human Skin and Hair Pigmentation

Molecular genetics of human pigmentation diversity

Characterization of the Melanoma miRNAome by Deep Sequencing

Genetics of human iris colour and patterns

Sun-induced freckling: ephelides and solar lentigines

BRN2, a POUerful driver of melanoma phenotype switching and metastasis

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants

A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

Automated Detection of Pigmented Iris Freckles Using a Deep Neural Network for Cutaneous Melanoma Risk

Whole-Exome Sequencing of Acquired Nevi Identifies Mechanisms for Development and Maintenance of Benign Neoplasms

The NR4A2 nuclear receptor is recruited to novel nuclear foci in response to UV irradiation and participates in nucleotide excision repair

A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation

TLR3 drives IRF6‐dependent IL‐23p19 expression and p19/EBI3 heterodimer formation in keratinocytes

Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European

Classifying dermoscopic patterns of naevi in a case-control study of melanoma

Genome-Scale DNA Methylation Analysis Identifies Repeat Element Alterations that Modulate the Genomic Stability of Melanocytic Nevi

The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence

POT1 and multiple primary melanomas: the dermatological phenotype

Brn-2 Represses Microphthalmia-Associated Transcription Factor Expression and Marks a Distinct Subpopulation of Microphthalmia-Associated Transcription Factor-Negative Melanoma Cells

Multiple Pigmentation Gene Polymorphisms Account for a Substantial Proportion of Risk of Cutaneous Malignant Melanoma

Melanoma mutations modify melanocyte dynamics in co-culture with keratinocytes or fibroblasts

Assessing the genetic risk of nodular melanoma using a candidate gene approach

GOLM1 : expanding our understanding of melanoma susceptibility

Mutation Signatures in Melanocytic Nevi Reveal Characteristics of Defective DNA Repair

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