| 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 |
0.812 |
|
| 2022 |
Atzmony L, Ugwu N, Hamilton C, Paller AS, Zech L, Antaya RJ, Choate KA. Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders. Pediatric Dermatology. PMID 35853659 DOI: 10.1111/pde.15094 |
0.38 |
|
| 2021 |
Ellis KT, Ovejero D, Choate KA. Cutaneous mosaicism: Special considerations for women. International Journal of Women's Dermatology. 7: 539-544. PMID 35024410 DOI: 10.1016/j.ijwd.2021.10.004 |
0.388 |
|
| 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, ... ... Choate KA, et al. The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds. Jama Dermatology. PMID 34851365 DOI: 10.1001/jamadermatol.2021.4242 |
0.757 |
|
| 2021 |
Sun Q, Gehlhausen JR, Freudzon M, Kibbi N, Bale A, Choate K, Tomayko M, Odell I, Ramachandran S. A novel mutation linking pyoderma gangrenosum and common variable immunodeficiency. Jaad Case Reports. 18: 61-63. PMID 34825039 DOI: 10.1016/j.jdcr.2021.10.015 |
0.476 |
|
| 2021 |
Frare CP, Blumstein AJ, Paller AS, Pieretti L, Choate KA, Bowcock AM, Larralde M. CARD14-associated papulosquamous eruption (CAPE) in pediatric patients: Three additional cases and review of the literature. Pediatric Dermatology. PMID 34448248 DOI: 10.1111/pde.14779 |
0.311 |
|
| 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 |
0.773 |
|
| 2021 |
Ugwu N, Atzmony L, Ellis KT, Panse G, Jain D, Ko CJ, Nassiri N, Choate KA. Cutaneous and hepatic vascular lesions due to a recurrent somatic mutation reveal a pathway for vascular malformation. Hgg Advances. 2. PMID 33912852 DOI: 10.1016/j.xhgg.2021.100028 |
0.368 |
|
| 2020 |
Cheraghlou S, Lim Y, Choate KA. Mosaicism in genodermatoses. Clinics in Dermatology. 38: 408-420. PMID 32972600 DOI: 10.1016/J.Clindermatol.2020.03.008 |
0.338 |
|
| 2020 |
Lim Y, Fereydooni A, Brahmandam A, Dardik A, Choate K, Nassiri N. Mechanochemical and surgical ablation of an anomalous upper extremity marginal vein in CLOVES syndrome identifies as the culprit gene mutation. Journal of Vascular Surgery Cases and Innovative Techniques. 6: 438-442. PMID 32775850 DOI: 10.1016/J.Jvscit.2020.05.013 |
0.475 |
|
| 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 |
0.841 |
|
| 2020 |
Sun Q, Atzmony L, Zaki T, Peng A, Sugarman J, Choate KA. Clues to primary vismodegib resistance lie in histology and genetics. Journal of Clinical Pathology. PMID 32217615 DOI: 10.1136/Jclinpath-2020-206448 |
0.473 |
|
| 2020 |
Atzmony L, Ugwu N, Zaki TD, Antaya RJ, Choate KA. Post-Zygotic ACTB Mutations Underlie Congenital Smooth Muscle Hamartomas. Journal of Cutaneous Pathology. PMID 32170967 DOI: 10.1111/Cup.13683 |
0.517 |
|
| 2020 |
Lim YH, Zaki TD, Levinsohn JL, Galan A, Choate KA, Hanlon AM. Somatic Mutation Profile of Atypical Fibroxanthoma and Cutaneous Undifferentiated Pleomorphic Sarcoma. Dermatologic Surgery : Official Publication For American Society For Dermatologic Surgery [Et Al.]. PMID 32079866 DOI: 10.1097/Dss.0000000000002342 |
0.599 |
|
| 2020 |
Cheraghlou S, Atzmony L, Roy SF, McNiff JM, Choate KA. Mutations in KRT10 in epidermolytic acanthoma. Journal of Cutaneous Pathology. PMID 32045015 DOI: 10.1111/Cup.13664 |
0.599 |
|
| 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 |
0.836 |
|
| 2019 |
Ring NG, Craiglow BG, Panse G, Antaya RJ, Ashack K, Ashack R, Fernandez Faith E, Paller AS, McNiff JM, Choate KA, Ko CJ. Histopathologic findings characteristic of CARD14-associated papulosquamous eruption. Journal of Cutaneous Pathology. PMID 31849081 DOI: 10.1111/Cup.13633 |
0.451 |
|
| 2019 |
Atzmony L, Choate KA. Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis. The Journal of Investigative Dermatology. 139: 2409-2411. PMID 31753123 DOI: 10.1016/J.Jid.2019.07.723 |
0.499 |
|
| 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 |
0.793 |
|
| 2019 |
Atzmony L, Zaki TD, Antaya RJ, Choate KA. Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions. American Journal of Medical Genetics. Part A. PMID 31566882 DOI: 10.1002/Ajmg.A.61362 |
0.615 |
|
| 2019 |
Atzmony L, Lim YH, Hamilton C, Leventhal JS, Wagner A, Paller AS, Choate KA. Topical cholesterol/lovastatin for the treatment of porokeratosis: a pathogenesis-directed therapy. Journal of the American Academy of Dermatology. PMID 31449901 DOI: 10.1016/J.Jaad.2019.08.043 |
0.429 |
|
| 2019 |
Lim YH, Fraile C, Antaya RJ, Choate KA. Tufted angioma with associated Kasabach-Merritt phenomenon caused by somatic mutation in GNA14. Pediatric Dermatology. PMID 31423605 DOI: 10.1111/Pde.13979 |
0.455 |
|
| 2019 |
Ko CJ, Atzmony L, Lim Y, McNiff JM, Craiglow B, Antaya RJ, Choate KA. Review of genodermatoses with characteristic histopathology and potential diagnostic delay. Journal of Cutaneous Pathology. PMID 31148225 DOI: 10.1111/Cup.13520 |
0.379 |
|
| 2019 |
Cheraghlou S, Lim Y, Choate K. Genetic investigation of childhood vascular tumor biology reveals pathways for therapeutic intervention. F1000research. 8. PMID 31069062 DOI: 10.12688/F1000Research.16160.1 |
0.362 |
|
| 2019 |
Atzmony L, Khan HM, Lim YH, Paller AS, Levinsohn JL, Holland KE, Mirza FN, Yin E, Ko CJ, Leventhal JS, Choate KA. Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. Jama Dermatology. PMID 30942823 DOI: 10.1001/Jamadermatol.2019.0016 |
0.487 |
|
| 2019 |
Atzmony L, Khan H, Lim Y, Paller A, Levinsohn J, Holland K, Nadeem Mirza F, Yin E, Ko C, Leventhal J, Choate K. 390 Second-hit, post-zygotic PMVKand MVD mutations cause linear porokeratosis Journal of Investigative Dermatology. 139: S67. DOI: 10.1016/J.Jid.2019.03.466 |
0.558 |
|
| 2018 |
Lekwuttikarn R, Lim YH, Admani S, Choate KA, Teng JMC. Genotype-Guided Medical Treatment of an Arteriovenous Malformation in a Child. Jama Dermatology. PMID 30566190 DOI: 10.1001/Jamadermatol.2018.4653 |
0.462 |
|
| 2018 |
Crumrine D, Khnykin D, Krieg P, Man MQ, Celli A, Mauro TM, Wakefield JS, Menon G, Mauldin E, Miner JH, Lin MH, Brash AR, Sprecher E, Radner FPW, Choate K, et al. Perspective: Mutations in Recessive Congenital Ichthyoses Illuminate the Origin and Functions of the Corneocyte Lipid Envelope. The Journal of Investigative Dermatology. PMID 30471252 DOI: 10.1016/J.Jid.2018.11.005 |
0.376 |
|
| 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, ... ... Choate KA, 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 |
0.832 |
|
| 2018 |
Lilly E, Bunick CG, Maley AM, Zhang S, Spraker MK, Theos AJ, Vivar KL, Seminario-Vidal L, Bennett AE, Sidbury R, Ogawa Y, Akiyama M, Binder B, Hadj-Rabia S, Morotti RA, ... ... Choate KA, et al. More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations. Journal of the American Academy of Dermatology. PMID 30287322 DOI: 10.1016/J.Jaad.2018.09.042 |
0.464 |
|
| 2018 |
Zaki TD, Yoo KY, Kassardjian M, Choate KA. A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis. Pediatric Dermatology. PMID 30152556 DOI: 10.1111/Pde.13643 |
0.518 |
|
| 2018 |
Lim YH, Burke AB, Roberts MS, Collins MT, Choate KA. Multilineage ACTB mutation in a patient with fibro-osseous maxillary lesion and pilocytic astrocytoma. American Journal of Medical Genetics. Part A. PMID 30152002 DOI: 10.1002/Ajmg.A.40475 |
0.477 |
|
| 2018 |
Zaki T, Choate K. Recent advances in understanding inherited disorders of keratinization. F1000research. 7: 919. PMID 30002814 DOI: 10.12688/F1000Research.14514.1 |
0.522 |
|
| 2018 |
Mauldin EA, Crumrine D, Casal ML, Jeong S, Opálka L, Vavrova K, Uchida Y, Park K, Craiglow B, Choate KA, Shin KO, Lee YM, Grove GL, Wakefield JS, Khnykin D, et al. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin) Deficient Canines. The American Journal of Pathology. PMID 29548991 DOI: 10.1016/J.Ajpath.2018.02.008 |
0.498 |
|
| 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, ... ... Choate KA, 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 |
0.807 |
|
| 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 |
0.791 |
|
| 2017 |
Lim YH, Moscato Z, Choate KA. Mosaicism in Cutaneous Disorders. Annual Review of Genetics. 51: 123-141. PMID 29178821 DOI: 10.1146/Annurev-Genet-121415-121955 |
0.564 |
|
| 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 |
0.835 |
|
| 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 |
0.71 |
|
| 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, ... ... Choate KA, 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 |
0.829 |
|
| 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 |
0.805 |
|
| 2017 |
Ferrari B, Morita L, Choate K, Hu RH. Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report. Dermatology Online Journal. 23. PMID 28329493 |
0.371 |
|
| 2017 |
Lim YH, Fisher JM, Choate KA. Revertant mosaicism in genodermatoses. Cellular and Molecular Life Sciences : Cmls. PMID 28168442 DOI: 10.1007/S00018-017-2468-2 |
0.489 |
|
| 2017 |
Levinsohn J, Sugarman J, McNiff J, Freiden I, Antaya R, Choate K. 514 Somatic mutations in nevus comedonicus identify nek9 as a determinant of follicular keratinocyte cell fate Journal of Investigative Dermatology. 137. DOI: 10.1016/J.Jid.2017.02.534 |
0.552 |
|
| 2017 |
Lim Y, Bacchiocchi A, Qiu J, Bruckner A, Bercovitch L, Narayan D, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate K. 513 GNA14 somatic mutation causes congenital and sporadic vascular tumors by MAPK activation Journal of Investigative Dermatology. 137. DOI: 10.1016/J.Jid.2017.02.533 |
0.486 |
|
| 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 |
0.784 |
|
| 2016 |
Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, Glick SA. Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care. Pediatrics. PMID 27999114 DOI: 10.1542/Peds.2016-1003 |
0.342 |
|
| 2016 |
Lim YH, Choate KA. Expanding the Mutation Spectrum of Ichthyosis with Confetti. The Journal of Investigative Dermatology. 136: 1941-1943. PMID 27664712 DOI: 10.1016/J.Jid.2016.07.005 |
0.624 |
|
| 2016 |
Paller AS, Renert-Yuval Y, Suprun M, Esaki H, Oliva M, Huynh TN, Ungar B, Kunjravia N, Friedland R, Peng X, Zheng X, Estrada YD, Krueger JG, Choate KA, Suárez-Fariñas M, et al. An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. The Journal of Allergy and Clinical Immunology. PMID 27554821 DOI: 10.1016/J.Jaci.2016.07.019 |
0.318 |
|
| 2016 |
Ovejero D, Lim YH, Boyce AM, Gafni RI, McCarthy E, Nguyen TA, Eichenfield LF, DeKlotz CM, Guthrie LC, Tosi LL, Thornton PS, Choate KA, Collins MT. Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa. PMID 27497815 DOI: 10.1007/S00198-016-3702-8 |
0.44 |
|
| 2016 |
Lim YH, Bacchiocchi A, Qiu J, Straub R, Bruckner A, Bercovitch L, Narayan D, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate KA. GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation. American Journal of Human Genetics. PMID 27476652 DOI: 10.1016/J.Ajhg.2016.06.010 |
0.531 |
|
| 2016 |
Lim YH, Ovejero D, Derrick KM, Collins MT, Choate KA. Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy. Journal of the American Academy of Dermatology. 75: 420-7. PMID 27444071 DOI: 10.1016/J.Jaad.2015.11.012 |
0.463 |
|
| 2016 |
Funk T, Lim Y, Kulungowski AM, Prok L, Crombleholme TM, Choate K, Bruckner AL. Symptomatic Congenital Hemangioma and Congenital Hemangiomatosis Associated With a Somatic Activating Mutation in GNA11. Jama Dermatology. PMID 27438697 DOI: 10.1001/Jamadermatol.2016.2365 |
0.422 |
|
| 2016 |
Esmer C, Salas-Alanis JC, Fajardo-Ramirez OR, Ramírez B, Hua R, Choate K. Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation. Revista De InvestigacióN ClíNica; Organo Del Hospital De Enfermedades De La NutricióN. 68: 143-6. PMID 27409001 |
0.476 |
|
| 2016 |
Marukian NV, Choate KA. Recent advances in understanding ichthyosis pathogenesis. F1000research. 5. PMID 27408699 DOI: 10.12688/F1000Research.8584.1 |
0.475 |
|
| 2016 |
Lim YH, Fisher JM, Bosenberg MW, Choate KA, Ko CJ. Keratoacanthoma Shares Driver Mutations with Cutaneous Squamous Cell Carcinoma. The Journal of Investigative Dermatology. PMID 27283355 DOI: 10.1016/J.Jid.2016.04.002 |
0.461 |
|
| 2016 |
Lim YH, Qiu J, Saraceni C, Burrall BA, Choate KA. Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation. The Journal of Investigative Dermatology. PMID 27208707 DOI: 10.1016/J.Jid.2016.04.023 |
0.541 |
|
| 2016 |
Levinsohn JL, Sugarman JL, McNiff JM, Antaya RJ, Choate KA. Somatic Mutations in NEK9 Cause Nevus Comedonicus. American Journal of Human Genetics. 98: 1030-7. PMID 27153399 DOI: 10.1016/J.Ajhg.2016.03.019 |
0.563 |
|
| 2016 |
Dalamón VK, Buonfiglio P, Larralde M, Craig P, Lotersztein V, Choate K, Pallares N, Diamante V, Elgoyhen AB. Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report. Bmc Medical Genetics. 17: 37. PMID 27141831 DOI: 10.1186/S12881-016-0298-Y |
0.6 |
|
| 2016 |
Lim YH, Saraceni C, Choate K. 392 A novel polyalanine frameshift mutation in KRT10 causes ichthyosis with confetti Journal of Investigative Dermatology. 136. DOI: 10.1016/J.Jid.2016.02.426 |
0.61 |
|
| 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 |
0.781 |
|
| 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 |
0.819 |
|
| 2016 |
Lu Y, Mirza H, Hu R, Zhou J, Crumrine D, Elias P, Lifton R, Choate K. 351 Epidermal fragility in Keratin 10 ichthyosis with confetti mutation results from loss of keratin 1-desmoplakin interaction Journal of Investigative Dermatology. 136: S62. DOI: 10.1016/J.Jid.2016.02.383 |
0.657 |
|
| 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 |
0.829 |
|
| 2015 |
Lim YH, Odell ID, Ko CJ, Choate KA. Somatic p.T771R KDR (VEGFR2) Mutation Arising in a Sporadic Angioma During Ramucirumab Therapy. Jama Dermatology. 1-4. PMID 26422291 DOI: 10.1001/Jamadermatol.2015.1925 |
0.381 |
|
| 2015 |
Salas-Alanis JC, Wozniak E, Mein CA, Duran Mckinster CC, Ocampo-Candiani J, Kelsell DP, Hua R, Garza-Rodriguez ML, Choate KA, Barrera Saldaña HA. Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia. Annals of Dermatology. 27: 474-7. PMID 26273176 DOI: 10.5021/Ad.2015.27.4.474 |
0.606 |
|
| 2015 |
Mirza H, Kumar A, Craiglow BG, Zhou J, Saraceni C, Torbeck R, Ragsdale B, Rehder P, Ranki A, Choate KA. Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis. The Journal of Investigative Dermatology. 135: 3041-50. PMID 26176760 DOI: 10.1038/Jid.2015.284 |
0.504 |
|
| 2015 |
Knopp EA, Saraceni C, Moss J, McNiff JM, Choate KA. Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease. Journal of Cutaneous Pathology. PMID 26154588 DOI: 10.1111/Cup.12551 |
0.561 |
|
| 2015 |
Levinsohn JL, Sugarman JL, Bilguvar K, McNiff JM, Choate KA. Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum. The Journal of Investigative Dermatology. 135: 2536-8. PMID 25950823 DOI: 10.1038/Jid.2015.180 |
0.561 |
|
| 2015 |
Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. The Journal of Clinical Investigation. 125: 1703-7. PMID 25774499 DOI: 10.1172/Jci64415 |
0.718 |
|
| 2015 |
Lim YH, Douglas SR, Ko CJ, Antaya RJ, McNiff JM, Zhou J, Choate KA, Narayan D. Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma. The Journal of Investigative Dermatology. 135: 1698-700. PMID 25695684 DOI: 10.1038/Jid.2015.55 |
0.431 |
|
| 2015 |
Levinsohn JL, McNiff JM, Antaya RJ, Choate KA. A Somatic p.G45E GJB2 Mutation Causing Porokeratotic Eccrine Ostial and Dermal Duct Nevus. Jama Dermatology. 151: 638-41. PMID 25692760 DOI: 10.1001/Jamadermatol.2014.5069 |
0.626 |
|
| 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 |
0.839 |
|
| 2015 |
Choate KA, Milstone LM. Phenotypic expansion in ichthyosis with confetti. Jama Dermatology. 151: 15-6. PMID 25210951 DOI: 10.1001/Jamadermatol.2014.2525 |
0.392 |
|
| 2014 |
Koochek A, Choate KA, Milstone LM. Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation. Pediatric Dermatology. 31: e63-4. PMID 24274932 DOI: 10.1111/Pde.12263 |
0.44 |
|
| 2014 |
Zambrano H, Montalvan M, Cabezas J, Lu Y, Yang CS, Milstone LM, Choate K. Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis. International Journal of Dermatology. 53: e312-3. PMID 24261627 DOI: 10.1111/Ijd.12227 |
0.609 |
|
| 2014 |
Levinsohn JL, Teng J, Craiglow BG, Loring EC, Burrow TA, Mane SS, Overton JD, Lifton RP, McNiff JM, Lucky AW, Choate KA. Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. The Journal of Investigative Dermatology. 134: 1149-52. PMID 24129065 DOI: 10.1038/Jid.2013.430 |
0.672 |
|
| 2014 |
Lim YH, Ovejero D, Sugarman JS, Deklotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, ... ... Choate KA, et al. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Human Molecular Genetics. 23: 397-407. PMID 24006476 DOI: 10.1093/Hmg/Ddt429 |
0.616 |
|
| 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 |
0.725 |
|
| 2013 |
Richard G, Choate K, Milstone L, Bale S. Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy. Dermatologic Therapy. 26: 55-68. PMID 23384021 DOI: 10.1111/J.1529-8019.2012.01553.X |
0.372 |
|
| 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 |
0.754 |
|
| 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 |
0.791 |
|
| 2012 |
Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA. An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred. Pediatric Dermatology. 29: 725-31. PMID 22515571 DOI: 10.1111/j.1525-1470.2012.01757.x |
0.655 |
|
| 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 |
0.844 |
|
| 2010 |
Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science (New York, N.Y.). 330: 94-7. PMID 20798280 DOI: 10.1126/Science.1192280 |
0.727 |
|
| 2003 |
Choate KA, Kahle KT, Wilson FH, Nelson-Williams C, Lifton RP. WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl--transporting epithelia Proceedings of the National Academy of Sciences of the United States of America. 100: 663-668. PMID 12522152 DOI: 10.1073/Pnas.242728499 |
0.794 |
|
| 2002 |
Lifton RP, Wilson FH, Choate KA, Geller DS. Salt and blood pressure: New insight from human genetic studies Cold Spring Harbor Symposia On Quantitative Biology. 67: 445-450. PMID 12858570 DOI: 10.1101/Sqb.2002.67.445 |
0.691 |
|
| 2002 |
Gunel M, Laurans MSH, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP. KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein Proceedings of the National Academy of Sciences of the United States of America. 99: 10677-10682. PMID 12140362 DOI: 10.1073/Pnas.122354499 |
0.535 |
|
| 2001 |
Wilson FH, Disse-Nicodème S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, et al. Human hypertension caused by mutations in WNK kinases. Science (New York, N.Y.). 293: 1107-12. PMID 11498583 DOI: 10.1126/Science.1062844 |
0.782 |
|
| 2000 |
Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genetics. 26: 71-5. PMID 10973252 DOI: 10.1038/79208 |
0.574 |
|
| 1999 |
Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science (New York, N.Y.). 285: 103-6. PMID 10390358 DOI: 10.1126/Science.285.5424.103 |
0.525 |
|
| 1997 |
Choate KA, Khavari PA. Direct cutaneous gene delivery in a human genetic skin disease. Human Gene Therapy. 8: 1659-65. PMID 9322868 DOI: 10.1089/Hum.1997.8.14-1659 |
0.338 |
|
| 1996 |
Choate KA, Kinsella TM, Williams ML, Nolan GP, Khavari PA. Transglutaminase 1 delivery to lamellar ichthyosis keratinocytes. Human Gene Therapy. 7: 2247-53. PMID 8953315 DOI: 10.1089/Hum.1996.7.18-2247 |
0.349 |
|
| 1996 |
Choate KA, Medalie DA, Morgan JR, Khavari PA. Corrective gene transfer in the human skin disorder lamellar ichthyosis Nature Medicine. 2: 1263-1267. PMID 8898758 DOI: 10.1038/Nm1196-1263 |
0.354 |
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