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Author Details

William J Pavan
National Human Genome Research Institute, National Institutes of Health
1963
159
52
PMIDPaper TitleJournal TitlePublished Year
37327787Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.Am J Hum Genet2023
37695017Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin.Elife2023
37090624Loss of MC1R signaling implicates TBX3 in pheomelanogenesis and melanoma predisposition.bioRxiv2023
37327787Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.Am J Hum Genet2023
37695017Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin.Elife2023
37090624Loss of MC1R signaling implicates TBX3 in pheomelanogenesis and melanoma predisposition.bioRxiv2023
35140266Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.Sci Rep2022
35140266Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.Sci Rep2022
34296265Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.Hum Mol Genet2021
34296265Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.Hum Mol Genet2021
33750024How a membrane transporter keeps melanocytes in the red.Pigment Cell Melanoma Res2021
34246199A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.Hum Mutat2021
34407999Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice.Life Sci Alliance2021
33750024How a membrane transporter keeps melanocytes in the red.Pigment Cell Melanoma Res2021
34407999Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice.Life Sci Alliance2021
34246199A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.Hum Mutat2021
31348921Melanoma to Vitiligo: The Melanocyte in Biology & Medicine-Joint Montagna Symposium on the Biology of Skin/PanAmerican Society for Pigment Cell Research Annual Meeting.J Invest Dermatol2020
31996359Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.Dis Model Mech2020
31668555Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific manner.Mol Genet Metab2020
33116284Strategic vision for improving human health at The Forefront of Genomics.Nature2020
31348921Melanoma to Vitiligo: The Melanocyte in Biology & Medicine-Joint Montagna Symposium on the Biology of Skin/PanAmerican Society for Pigment Cell Research Annual Meeting.J Invest Dermatol2020
31996359Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.Dis Model Mech2020
31668555Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific manner.Mol Genet Metab2020
33116284Strategic vision for improving human health at The Forefront of Genomics.Nature2020
30339321A curated gene list for expanding the horizons of pigmentation biology.Pigment Cell Melanoma Res2019
31861571NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.J Clin Med2019
30339321A curated gene list for expanding the horizons of pigmentation biology.Pigment Cell Melanoma Res2019
30651286Identification of Gene Variants Associated with Melanocyte Stem Cell Differentiation in Mice Predisposed for Hair Graying.G3 (Bethesda)2019
31448249A Metagenomics Study on Hirschsprung's Disease Associated Enterocolitis: Biodiversity and Gut Microbial Homeostasis Depend on Resection Length and Patient's Clinical History.Front Pediatr2019
31399133MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells.Epigenetics Chromatin2019
31315583Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.BMC Genet2019
31100995The Genetics of Human Skin and Hair Pigmentation.Annu Rev Genomics Hum Genet2019
31861571NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.J Clin Med2019
31315583Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.BMC Genet2019
31399133MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells.Epigenetics Chromatin2019
31448249A Metagenomics Study on Hirschsprung's Disease Associated Enterocolitis: Biodiversity and Gut Microbial Homeostasis Depend on Resection Length and Patient's Clinical History.Front Pediatr2019
31100995The Genetics of Human Skin and Hair Pigmentation.Annu Rev Genomics Hum Genet2019
30651286Identification of Gene Variants Associated with Melanocyte Stem Cell Differentiation in Mice Predisposed for Hair Graying.G3 (Bethesda)2019
29315345Identification and functional analysis of SOX10 phosphorylation sites in melanoma.PLoS One2018
30333196Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.Genome Res2018
30135069Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for <i>in vivo</i> screening of candidate therapeutic compounds.Dis Model Mech2018
29723194A direct link between MITF, innate immunity, and hair graying.PLoS Biol2018
29223359In Niemann-Pick C1 mouse models, glial-only expression of the normal gene extends survival much further than do changes in genetic background or treatment with hydroxypropyl-beta-cyclodextrin.Gene2018
29315345Identification and functional analysis of SOX10 phosphorylation sites in melanoma.PLoS One2018
30135069Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for <i>in vivo</i> screening of candidate therapeutic compounds.Dis Model Mech2018
30333196Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.Genome Res2018
29723194A direct link between MITF, innate immunity, and hair graying.PLoS Biol2018
29223359In Niemann-Pick C1 mouse models, glial-only expression of the normal gene extends survival much further than do changes in genetic background or treatment with hydroxypropyl-beta-cyclodextrin.Gene2018
27798114Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.Hum Mol Genet2017
28431046BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation.Nucleic Acids Res2017
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Collaborators

National Human Genome Research Institute, National Institutes of Health
Co-authored papers 39
Co-authored papers 30
Johns Hopkins University School of Medicine
Co-authored papers 8
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Co-authored papers 8
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Co-authored papers 7
National Institute of Neurological Disorders and Stroke, National Institute of Health
Co-authored papers 6
Center for Epigenomics, University of California San Diego
Co-authored papers 5
Center for Cancer Research, National Cancer Institute, National Institutes of Health
Co-authored papers 5
University of British Columbia
Co-authored papers 5
Intractable Disease Research Center, Graduate School of Medicine, Juntendo University
Co-authored papers 4
Center for Integrative Medical Sciences
Co-authored papers 4
University of Maryland School of Medicine
Co-authored papers 4
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
RIKEN Center for Integrative Medical Sciences
Co-authored papers 4
St. Jude Children's Research Hospital
Co-authored papers 4
Co-authored papers 4
Hiroshima University
Co-authored papers 4
RIKEN Center for Integrative Medical Sciences
Co-authored papers 4
Co-authored papers 3
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The University of Melbourne
Co-authored papers 3
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Co-authored papers 3
Center for Cancer Research, National Cancer Institute, National Institutes of Health
Co-authored papers 3
Mater Research Institute-UQ, Translational Research Institute
Co-authored papers 3
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
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Istituto Italiano di Tecnologia
Co-authored papers 3