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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Broeren EC, Gitau VN, Byrne AB, Ajuyah P, Balzotti MB, Berg JS, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns BT, Burns NJ, Chandrasekhar A, Chawla A, Chong JX, Chopra M, Clause AR, DiStefano MT, DiTroia S, Elnagheeb MA, Girod AN, Goel H, Golden-Grant KL, Ha T, Hamosh A, Huang JM, Hughes MY, Jamuar SS, Kam S, Kesari A, Koh AL, Lassiter RNT, Leigh SE, Lemire G, Lim JY, Malhotra A, McCurry HR, Milewski B, Moosa S, Murray SA, Owens EH, Palmer EE, Palus BC, Patel MJ, Rajkumar R, Ratliff JC, Raymond FL, Assis BDRR, Sajan SA, Schlachetzki Z, Schmidt SA, Stark Z, Samuel SP, Taylor JP, Thaxton C, Thrush DL, Toro S, Tshering K, Vasilevsky NA, Wayburn B, Webb RF, O'Donnell-Luria A, Coffey AJ. Broeren EC, et al. Among authors: schmidt sa. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317561. doi: 10.1101/2024.11.19.24317561. medRxiv. 2024. PMID: 39606380 Free PMC article. Preprint.
Prevalence and Patient Characteristics of Pachyonychia Congenita.
Andersen SR, Herlin LK, Schmidt SAJ, Sommerlund M. Andersen SR, et al. Among authors: schmidt saj. JAMA Dermatol. 2024 Oct 23:e243727. doi: 10.1001/jamadermatol.2024.3727. Online ahead of print. JAMA Dermatol. 2024. PMID: 39441584
Educational, labour market and relationship outcomes in people with acne.
Barbieri JS, Farkas DK, Skipper N, Bhate K, Langan SM, Kibsgaard L, Sørensen HT, Schmidt SAJ. Barbieri JS, et al. Among authors: schmidt saj. J Eur Acad Dermatol Venereol. 2024 Sep 18. doi: 10.1111/jdv.20323. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 39291920
Urticaria and the risk of cancer: a Danish population-based cohort study.
Sørensen SBT, Farkas DK, Vestergaard C, Schmidt SAJ, Lindahl LM, Mansfield KE, Langan SM, Sørensen HT. Sørensen SBT, et al. Among authors: schmidt saj. Br J Dermatol. 2024 Oct 17;191(5):706-712. doi: 10.1093/bjd/ljae264. Br J Dermatol. 2024. PMID: 38924752
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M. Herlin LK, et al. Among authors: schmidt saj. Eur J Med Genet. 2024 Jun;69:104937. doi: 10.1016/j.ejmg.2024.104937. Epub 2024 Apr 2. Eur J Med Genet. 2024. PMID: 38574886 Free article.
245 results