GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation
Lim, Young H., Bacchiocchi, Antonella, Qiu, Jingyao, Straub, Robert, Bruckner, Anna, Bercovitch, Lionel, Narayan, Deepak, McNiff, Jennifer, Ko, Christine, Robinson-Bostom, Leslie, Antaya, Richard, Halaban, Ruth, Choate, Keith A.
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Journal Article
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy
Atzmony, Lihi, Lim, Young H., Hamilton, Claire, Leventhal, Jonathan S., Wagner, Annette, Paller, Amy S., Choate, Keith A.
Published in Journal of the American Academy of Dermatology (01.01.2020)
Published in Journal of the American Academy of Dermatology (01.01.2020)
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Journal Article
Genotype-Guided Medical Treatment of an Arteriovenous Malformation in a Child
Lekwuttikarn, Ramrada, Lim, Young H, Admani, Shehla, Choate, Keith A, Teng, Joyce M C
Published in JAMA dermatology (Chicago, Ill.) (01.02.2019)
Published in JAMA dermatology (Chicago, Ill.) (01.02.2019)
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Journal Article
Association of Somatic ATP2A2 Damaging Variants With Grover Disease
Seli, Devin, Ellis, Katharine T, Goldust, Mohamad, Shah, Khadim, Hu, Ronghua, Zhou, Jing, McNiff, Jennifer M, Choate, Keith A
Published in JAMA dermatology (Chicago, Ill.) (01.07.2023)
Published in JAMA dermatology (Chicago, Ill.) (01.07.2023)
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Journal Article
CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris
Craiglow, Brittany G., Boyden, Lynn M., Hu, Ronghua, Virtanen, Marie, Su, John, Rodriguez, Gabriela, McCarthy, Catherine, Luna, Paula, Larralde, Margarita, Humphrey, Stephen, Holland, Kristen E., Hogeling, Marcia, Hidalgo-Matlock, Benjamin, Ferrari, Bruno, Fernandez-Faith, Esteban, Drolet, Beth, Cordoro, Kelly M., Bowcock, Anne M., Antaya, Richard J., Ashack, Kurt, Ashack, Richard J., Lifton, Richard P., Milstone, Leonard M., Paller, Amy S., Choate, Keith A.
Published in Journal of the American Academy of Dermatology (01.09.2018)
Published in Journal of the American Academy of Dermatology (01.09.2018)
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Journal Article
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis
Atzmony, Lihi, Khan, Habib M, Lim, Young H, Paller, Amy S, Levinsohn, Jonathan L, Holland, Kristen E, Mirza, Fatima Nadeem, Yin, Emily, Ko, Christine J, Leventhal, Jonathan S, Choate, Keith A
Published in JAMA dermatology (Chicago, Ill.) (01.05.2019)
Published in JAMA dermatology (Chicago, Ill.) (01.05.2019)
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Journal Article
Somatic Mutations in NEK9 Cause Nevus Comedonicus
Levinsohn, Jonathan L., Sugarman, Jeffrey L., McNiff, Jennifer M., Antaya, Richard J., Choate, Keith A.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
Boyden, Lynn M., Atzmony, Lihi, Hamilton, Claire, Zhou, Jing, Lim, Young H., Hu, Ronghua, Pappas, John, Rabin, Rachel, Ekstien, Joseph, Hirsch, Yoel, Prendiville, Julie, Lifton, Richard P., Ferguson, Shawn, Choate, Keith A.
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations
Lilly, Evelyn, Bunick, Christopher G., Maley, Alexander M., Zhang, Shali, Spraker, Mary K., Theos, Amy J., Vivar, Karina L., Seminario-Vidal, Lucia, Bennett, Adam E., Sidbury, Robert, Ogawa, Yasushi, Akiyama, Masashi, Binder, Barbara, Hadj-Rabia, Smail, Morotti, Raffaella A., Glusac, Earl J., Choate, Keith A., Richard, Gabriele, Milstone, Leonard M.
Published in Journal of the American Academy of Dermatology (01.03.2019)
Published in Journal of the American Academy of Dermatology (01.03.2019)
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Journal Article
Somatic p.T771R KDR (VEGFR2) Mutation Arising in a Sporadic Angioma During Ramucirumab Therapy
Lim, Young H, Odell, Ian D, Ko, Christine J, Choate, Keith A
Published in JAMA dermatology (Chicago, Ill.) (01.11.2015)
Published in JAMA dermatology (Chicago, Ill.) (01.11.2015)
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Journal Article
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
Boyden, Lynn M., Craiglow, Brittany G., Zhou, Jing, Hu, Ronghua, Loring, Erin C., Morel, Kimberly D., Lauren, Christine T., Lifton, Richard P., Bilguvar, Kaya, Paller, Amy S., Choate, Keith A.
Published in Journal of investigative dermatology (01.06.2015)
Published in Journal of investigative dermatology (01.06.2015)
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Journal Article
Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mauldin, Elizabeth A., Crumrine, Debra, Casal, Margret L., Jeong, Sekyoo, Opálka, Lukáš, Vavrova, Katerina, Uchida, Yoshikazu, Park, Kyungho, Craiglow, Brittany, Choate, Keith A., Shin, Kyong-Oh, Lee, Yong-Moon, Grove, Gary L., Wakefield, Joan S., Khnykin, Denis, Elias, Peter M.
Published in The American journal of pathology (01.06.2018)
Published in The American journal of pathology (01.06.2018)
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Journal Article
Improving outcomes for harlequin ichthyosis
Milstone, Leonard M., MD, Choate, Keith A., MD, PhD
Published in Journal of the American Academy of Dermatology (01.11.2013)
Published in Journal of the American Academy of Dermatology (01.11.2013)
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Journal Article
Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum
Levinsohn, Jonathan L., Sugarman, Jeffrey L., Bilguvar, Kaya, McNiff, Jennifer M., Choate, Keith A., The Yale Center for Mendelian Genomics
Published in Journal of investigative dermatology (01.10.2015)
Published in Journal of investigative dermatology (01.10.2015)
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Journal Article
Intravenous immunoglobulin-induced eczematous dermatitis treated with dupilumab
Singh, Katelyn, Breidbart, Rachel, Jaiswal, Anjali, Damsky, William, Choate, Keith A., Vesely, Matthew
Published in JAAD Case Reports (01.07.2024)
Published in JAAD Case Reports (01.07.2024)
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Journal Article
Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis
Mirza, Haris, Kumar, Anil, Craiglow, Brittany G., Zhou, Jing, Saraceni, Corey, Torbeck, Richard, Ragsdale, Bruce, Rehder, Paul, Ranki, Annamari, Choate, Keith A.
Published in Journal of investigative dermatology (01.12.2015)
Published in Journal of investigative dermatology (01.12.2015)
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Journal Article