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Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.
Virolainen SJ, Satish L, Biagini JM, Chaib H, Chang WC, Dexheimer PJ, Dixon MR, Dunn K, Fletcher D, Forney C, Granitto M, Hestand MS, Hurd M, Kauffman K, Lawson L, Martin LJ, Peña LD, Phelan KJ, Shook M, Weirauch MT, Khurana Hershey GK, Kottyan LC. Virolainen SJ, et al. Among authors: pena ld. JCI Insight. 2024 Apr 2;9(9):e178258. doi: 10.1172/jci.insight.178258. JCI Insight. 2024. PMID: 38564302 Free PMC article.
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N; Undiagnosed Diseases Network; Shashi V, Pena LDM. Tan QK, et al. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003046. doi: 10.1101/mcs.a003046. Print 2018 Oct. Cold Spring Harb Mol Case Stud. 2018. PMID: 29970384 Free PMC article.
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
Harms FL, Rexach JE, Efthymiou S, Aynekin B, Per H, Güleç A, Nampoothiri S, Sampaio H, Sachdev R, Stoeva R, Myers K, Pena LDM, Kalfa TA, Chard M, Klassen M, Pries M, Kutsche K. Harms FL, et al. Among authors: pena ldm. Eur J Hum Genet. 2024 May;32(5):558-566. doi: 10.1038/s41431-024-01563-5. Epub 2024 Feb 19. Eur J Hum Genet. 2024. PMID: 38374468 Free PMC article.
Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Poskanzer SA, Peña LDM, Niu Z; ACMG Therapeutics Committee6∗[email protected]. Poskanzer SA, et al. Genet Med Open. 2023 Mar 27;1(1):100771. doi: 10.1016/j.gimo.2023.100771. eCollection 2023. Genet Med Open. 2023. PMID: 39669232 Free PMC article. No abstract available.
IRF2BPL-Related Disorder.
Vanagunas T, Ulm Seiwert E, Larsh TR, Marcogliese PC, Pena LDM. Vanagunas T, et al. Among authors: pena ldm. 2024 Nov 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Nov 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 39571061 Free Books & Documents. Review.
Shashi-Pena Syndrome.
Porter JM, Pena LDM, Spillmann RC, Johnson A, Shashi V. Porter JM, et al. Among authors: pena ldm. 2024 Nov 7. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Nov 7. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 39527683 Free Books & Documents. Review.
Genetic signatures of AKT1 variants associated with worse COVID-19 outcomes - a multicentric observational study.
de Almeida IM, Tosta BR, Pena LDC, Silva HDS, Reis-Goes FS, Silva NN, Cruz JVA, Silva MDA, de Araújo JF, Rodrigues JL, Oliveira G, Figueiredo RG, Vaz SN, Montaño-Castellón I, Santana D, Torres A, Beltrão FEL, Carneiro VL, Campos GS, Brites C, Fortuna V, Figueiredo CA, Trindade SC, Ramos HE, Costa RDS. de Almeida IM, et al. Among authors: pena ldc. Front Immunol. 2024 Oct 8;15:1422349. doi: 10.3389/fimmu.2024.1422349. eCollection 2024. Front Immunol. 2024. PMID: 39439795 Free PMC article.
76 results