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Page 1
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∗documents@acmg.net. Poskanzer SA, et al. Among authors: pena ldm. 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.
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. Among authors: pena ldm. 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.
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. JCI Insight. 2024 Apr 2;9(9):e178258. doi: 10.1172/jci.insight.178258. JCI Insight. 2024. PMID: 38564302 Free PMC article.
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; 1993–2025. 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; 1993–2025. 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; 1993–2025. 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; 1993–2025. PMID: 39527683 Free Books & Documents. Review.
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Peña LDM, Burrage LC, Enns GM, Esplin ED, Harding C, Mendell JR, Niu ZN, Scharfe C, Yu T, Koeberl DD; ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Peña LDM, et al. Genet Med. 2023 Jun;25(6):100831. doi: 10.1016/j.gim.2023.100831. Epub 2023 Apr 9. Genet Med. 2023. PMID: 37031408 Free PMC article. No abstract available.
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
Duong T, Kishnani PS, An Haack K, Foster MC, Gibson JB, Wilson C, Hahn SH, Hillman R, Kronn D, Leslie ND, Peña LDM, Sparks SE, Stockton DW, Tanpaiboon P, Day JW; Pompe ADVANCE Study Consortium. Duong T, et al. Among authors: pena ldm. J Neuromuscul Dis. 2022;9(6):713-730. doi: 10.3233/JND-210784. J Neuromuscul Dis. 2022. PMID: 36214004 Free PMC article.
54 results