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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J. Mullegama SV, et al. Among authors: miller de. Am J Hum Genet. 2024 May 14:S0002-9297(24)00167-8. doi: 10.1016/j.ajhg.2024.05.004. Online ahead of print. Am J Hum Genet. 2024. PMID: 38749428 No abstract available.
Erratum: Sociome Data Commons: A scalable and sustainable platform for investigating the full social context and determinants of health - ERRATUM.
Tilmon S, Nyenhuis S, Solomonides A, Barbarioli B, Bhargava A, Birz S, Bouzein K, Cardenas C, Carlson B, Cohen E, Dillon E, Furner B, Huang Z, Johnson J, Krishnan N, Lazenby K, Li K, Makhni S, Miller D, Ozik J, Santos C, Sleiman M, Solway J, Krishnan S, Volchenbouma S. Tilmon S, et al. Among authors: miller d. J Clin Transl Sci. 2024 May 13;8(1):e82. doi: 10.1017/cts.2024.537. eCollection 2024. J Clin Transl Sci. 2024. PMID: 38745878 Free PMC article.
Exploring the Impact of Nickel Exposure on Female Fertility.
Ganz M, Devor S, Gejerman Y, Benyaminov T, Ishakis Y, Bulmash M, Miller D. Ganz M, et al. Among authors: miller d. Cureus. 2024 Apr 5;16(4):e57681. doi: 10.7759/cureus.57681. eCollection 2024 Apr. Cureus. 2024. PMID: 38707078 Free PMC article.
The short version of the Sexual Distress Scale (SDS-3): Measurement invariance across countries, gender identities, and sexual orientations.
Lin CY, Tsai MC, Koós M, Nagy L, Kraus SW, Demetrovics Z, Potenza MN, Ballester-Arnal R, Batthyány D, Bergeron S, Billieux J, Briken P, Cárdenas-López G, Carvalho J, Castro-Calvo J, Chen L, Ciocca G, Corazza O, Csako RI, Fernandez DP, Fernandez EF, Fujiwara H, Fuss J, Gabrhelík R, Gewirtz-Meydan A, Gjoneska B, Gola M, Grubbs JB, Hashim HT, Islam MS, Ismail M, Jiménez-Martínez M, Jurin T, Kalina O, Klein V, Költő A, Lee SK, Lewczuk K, Lochner C, López-Alvarado S, Lukavská K, Mayta-Tristán P, Milea I, Miller DJ, Orosová O, Orosz G; Sungkyunkwan University's research team; Ponce FP, Quintana GR, Garzola GCQ, Ramos-Diaz J, Rigaud K, Rousseau A, Scanavino MT, Schulmeyer MK, Sharan P, Shibata M, Shoib S, Sigre-Leirós V, Sniewski L, Spasovski O, Steibliene V, Stein DJ, Strizek J, Štulhofer A, Ünsal BC, Vaillancourt-Morel MP, Van Hout MC, Bőthe B. Lin CY, et al. Among authors: miller dj. Int J Clin Health Psychol. 2024 Apr-Jun;24(2):100461. doi: 10.1016/j.ijchp.2024.100461. Epub 2024 Apr 30. Int J Clin Health Psychol. 2024. PMID: 38706570 Free PMC article.
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