Year |
Citation |
Score |
2022 |
Zaki TD, Boyden LM, Mathes E, Hu RH, Zhou J, Loring E, North J, Oza V, Choate KA. Focal Palmoplantar Keratoderma and Gingival Keratosis Caused by a KRT16 Mutation. Cutis. 110: E5-E7. PMID 36179229 DOI: 10.12788/cutis.0571 |
0.738 |
|
2021 |
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu RH, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, ... ... Boyden LM, et al. The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds. Jama Dermatology. PMID 34851365 DOI: 10.1001/jamadermatol.2021.4242 |
0.656 |
|
2021 |
Vahidnezhad H, Youssefian L, Saeidian AH, Boyden LM, Touati A, Harvey N, Naji M, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Choate KA, et al. Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation. Matrix Biology : Journal of the International Society For Matrix Biology. PMID 34004352 DOI: 10.1016/j.matbio.2021.05.002 |
0.672 |
|
2020 |
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. American Journal of Human Genetics. PMID 32516568 DOI: 10.1016/J.Ajhg.2020.05.013 |
0.79 |
|
2020 |
Boyden L, Atzmony L, Zhou J, Lim Y, Hu R, Lifton R, Choate K. 294 Recessive mutations in AP1B1 cause ichthyosis, deafness, and blindness Journal of Investigative Dermatology. 140. DOI: 10.1016/J.Jid.2020.03.300 |
0.782 |
|
2019 |
Boyden LM, Atzmony L, Hamilton C, Zhou J, Lim YH, Hu R, Pappas J, Rabin R, Ekstien J, Hirsch Y, Prendiville J, Lifton RP, Ferguson S, Choate KA. Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. American Journal of Human Genetics. PMID 31630788 DOI: 10.1016/J.Ajhg.2019.09.021 |
0.719 |
|
2018 |
Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschké P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, et al. Mutations in PERP cause dominant and recessive keratoderma. The Journal of Investigative Dermatology. PMID 30321533 DOI: 10.1016/J.Jid.2018.08.026 |
0.775 |
|
2018 |
Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, et al. A Spectrum Including Features of Psoriasis and Pityriasis Rubra Pilaris. Journal of the American Academy of Dermatology. PMID 29477734 DOI: 10.1016/J.Jaad.2018.02.034 |
0.739 |
|
2018 |
Boyden L, Vincent N, Zhou J, Hu R, Paller A, Lifton R, Baserga S, Choate K. 799 Exome, genome, and cDNA sequencing reveal KDSR mutations cause two forms of ichthyosis and identify retinoids as pathogenesis-directed therapy Journal of Investigative Dermatology. 138: S136. DOI: 10.1016/J.Jid.2018.03.809 |
0.718 |
|
2017 |
Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. American Journal of Human Genetics. 100: 978-984. PMID 28575652 DOI: 10.1016/J.Ajhg.2017.05.003 |
0.78 |
|
2017 |
Boyden LM, Choate KA. The Molecular Revolution in Cutaneous Biology: Identification of Skin Disease Genes. The Journal of Investigative Dermatology. 137: e61-e65. PMID 28411848 DOI: 10.1016/J.Jid.2016.11.019 |
0.573 |
|
2017 |
Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, et al. Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation. The British Journal of Dermatology. PMID 28403545 DOI: 10.1111/Bjd.15570 |
0.77 |
|
2017 |
Marukian NV, Hu RH, Craiglow BG, Milstone LM, Zhou J, Theos A, Kaymakcalan H, Akkaya DA, Uitto JJ, Vahidnezhad H, Youssefian L, Bayliss SJ, Paller AS, Boyden LM, Choate KA. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. Jama Dermatology. PMID 28403434 DOI: 10.1001/Jamadermatol.2017.0202 |
0.729 |
|
2017 |
Khan H, Boyden L, Tomita S, Choate K. 463 GJA1 mutations causing erythrokeratodermia variabilis et progressiva display increased connexin hemichannel activity Journal of Investigative Dermatology. 137: S80. DOI: 10.1016/J.Jid.2017.02.482 |
0.695 |
|
2016 |
Boyden L, Kam C, Hernández-Martín A, Zhou J, Craiglow B, Milstone L, Hu R, Elias P, Green K, Choate K. 383 A novel erythrokeratodermia-cardiomyopathy syndrome is caused by dominant, clustered mutations in desmoplakin Journal of Investigative Dermatology. 136: S68. DOI: 10.1016/J.Jid.2016.02.416 |
0.696 |
|
2016 |
Marukian N, Zhou J, Hu R, Theos A, Kaymakcalan H, Bayliss S, Paller A, Boyden L, Choate K. 366 Bathing suit ichthyosis: Novel mutations and clues to pathogenesis Journal of Investigative Dermatology. 136: S65. DOI: 10.1016/J.Jid.2016.02.399 |
0.753 |
|
2015 |
Boyden LM, Kam CY, Hernández-Martín A, Zhou J, Craiglow BG, Sidbury R, Mathes EF, Maguiness SM, Crumrine DA, Williams ML, Hu R, Lifton RP, Elias PM, Green KJ, Choate KA. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. Human Molecular Genetics. PMID 26604139 DOI: 10.1093/Hmg/Ddv481 |
0.772 |
|
2015 |
Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, Paller AS, Choate KA. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. The Journal of Investigative Dermatology. 135: 1540-7. PMID 25398053 DOI: 10.1038/Jid.2014.485 |
0.784 |
|
2013 |
Orme CM, Boyden LM, Choate KA, Antaya RJ, King BA. Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. Pediatric Dermatology. 30: 409-15. PMID 23662773 DOI: 10.1111/Pde.12112 |
0.623 |
|
2013 |
Levinsohn JL, Tian LC, Boyden LM, McNiff JM, Narayan D, Loring ES, Yun D, Sugarman JL, Overton JD, Mane SM, Lifton RP, Paller AS, Wagner AM, Antaya RJ, Choate KA. Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. The Journal of Investigative Dermatology. 133: 827-30. PMID 23096712 DOI: 10.1038/Jid.2012.379 |
0.66 |
|
2012 |
Boyden LM, Orme CM, Antaya RJ, Choate KA, King BA. Capillary malformation-arteriovenous malformation syndrome: identification of a family with a novel mutation. Journal of the American Academy of Dermatology. 67: e287-9. PMID 23158644 DOI: 10.1016/J.Jaad.2012.07.004 |
0.71 |
|
2012 |
Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature. 482: 98-102. PMID 22266938 DOI: 10.1038/Nature10814 |
0.788 |
|
2011 |
Barbee SD, Woodward MJ, Turchinovich G, Mention JJ, Lewis JM, Boyden LM, Lifton RP, Tigelaar R, Hayday AC. Skint-1 is a highly specific, unique selecting component for epidermal T cells. Proceedings of the National Academy of Sciences of the United States of America. 108: 3330-5. PMID 21300860 DOI: 10.1073/Pnas.1010890108 |
0.442 |
|
2009 |
Lifton RP, Boyden LM. Genetic Approaches to Human Disease Genetic Diseases of the Kidney. 3-24. DOI: 10.1016/B978-0-12-449851-8.00001-2 |
0.378 |
|
2008 |
Boyden LM, Lewis JM, Barbee SD, Bas A, Girardi M, Hayday AC, Tigelaar RE, Lifton RP. Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells. Nature Genetics. 40: 656-62. PMID 18408721 DOI: 10.1038/Ng.108 |
0.504 |
|
2006 |
Ma B, Blackburn MR, Lee CG, Homer RJ, Liu W, Flavell RA, Boyden L, Lifton RP, Sun CX, Young HW, Elias JA. Adenosine metabolism and murine strain-specific IL-4-induced inflammation, emphysema, and fibrosis. The Journal of Clinical Investigation. 116: 1274-83. PMID 16670768 DOI: 10.1172/Jci26372 |
0.414 |
|
2002 |
Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP. High bone density due to a mutation in LDL-receptor-related protein 5. The New England Journal of Medicine. 346: 1513-21. PMID 12015390 DOI: 10.1056/Nejmoa013444 |
0.581 |
|
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