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Year Number of Results
2019 3
2020 4
2021 2
2022 5
2023 4
2024 0

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14 results

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Page 1
Current and new therapies for mucopolysaccharidoses.
Penon-Portmann M, Blair DR, Harmatz P. Penon-Portmann M, et al. Pediatr Neonatol. 2023 Feb;64 Suppl 1:S10-S17. doi: 10.1016/j.pedneo.2022.10.001. Epub 2022 Oct 26. Pediatr Neonatol. 2023. PMID: 36464587 Free article. Review.
Rubinstein-Taybi syndrome in diverse populations.
Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P. Tekendo-Ngongang C, et al. Among authors: penon portmann m. Am J Med Genet A. 2020 Dec;182(12):2939-2950. doi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985117
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR. Shieh JT, et al. Among authors: penon portmann m. HGG Adv. 2023 Oct 12;4(4):100236. doi: 10.1016/j.xhgg.2023.100236. Epub 2023 Sep 3. HGG Adv. 2023. PMID: 37660254 Free PMC article.
Optimizing genetics online resources for diverse readers.
Chang J, Penon-Portmann M, Shieh JT. Chang J, et al. Among authors: penon portmann m. Genet Med. 2020 Mar;22(3):640-645. doi: 10.1038/s41436-019-0695-7. Epub 2019 Nov 26. Genet Med. 2020. PMID: 31767985 Free PMC article.
Application of full-genome analysis to diagnose rare monogenic disorders.
Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. Shieh JT, et al. Among authors: penon portmann m. NPJ Genom Med. 2021 Sep 23;6(1):77. doi: 10.1038/s41525-021-00241-5. NPJ Genom Med. 2021. PMID: 34556655 Free PMC article.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Penon-Portmann M, Eldomery MK, Potocki L, Marafi D, Posey JE, Coban-Akdemir Z, Harel T, Grochowski CM, Loucks H, Devine WP, Van Ziffle J, Doherty D, Lupski JR, Shieh JT. Penon-Portmann M, et al. Am J Med Genet A. 2022 Aug;188(8):2360-2366. doi: 10.1002/ajmg.a.62872. Epub 2022 Jun 25. Am J Med Genet A. 2022. PMID: 35751429 Free PMC article.
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
Penon-Portmann M, Lotz-Esquivel S, Chavez Carrera A, Jiménez-Hernández M, Alvarado-Romero D, Segura-Cordero S, Rimolo-Donadio F, Hevia-Urrutia F, Mora-Guevara A, Saborío-Rocafort M, Jiménez-Arguedas G, Badilla-Porras R. Penon-Portmann M, et al. JIMD Rep. 2020 Feb 6;52(1):55-62. doi: 10.1002/jmd2.12098. eCollection 2020 Mar. JIMD Rep. 2020. PMID: 32154060 Free PMC article.
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. Shieh JT, et al. Among authors: penon portmann m. NPJ Genom Med. 2021 Oct 12;6(1):88. doi: 10.1038/s41525-021-00251-3. NPJ Genom Med. 2021. PMID: 34642307 Free PMC article. No abstract available.
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.
Penon-Portmann M, Westbury SK, Li L, Pluthero FG, Liu RJY, Yao HHY, Geng RSQ, Warner N, Muise AM, Lotz-Esquivel S, Howell-Ramirez M, Saborío-Chacon P, Fernández-Rojas S, Saborio-Rocafort M, Jiménez-Hernández M, Wang-Zuniga C, Cartín-Sánchez W, Shieh JT, Badilla-Porras R, Kahr WHA. Penon-Portmann M, et al. J Thromb Haemost. 2022 Jul;20(7):1712-1719. doi: 10.1111/jth.15711. Epub 2022 Apr 12. J Thromb Haemost. 2022. PMID: 35325493 Free article.
14 results