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Page 1
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME; University of California Fetal–Maternal Consortium; University of California, San Francisco Center for Maternal–Fetal Precision Medicine. Sparks TN, et al. Among authors: pluym id. N Engl J Med. 2020 Oct 29;383(18):1746-1756. doi: 10.1056/NEJMoa2023643. Epub 2020 Oct 7. N Engl J Med. 2020. PMID: 33027564 Free PMC article.
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Guimier A, de Pontual L, Braddock SR, Torti E, Pérez-Jurado LA, Muñoz-Cabello P, Arumí M, Monaghan KG, Lee H, Wang LK, Pluym ID, Lynch SA, Stals K, Ellard S, Muller C, Houyel L, Cohen L, Lyonnet S, Bajolle F, Amiel J, Gordon CT. Guimier A, et al. Among authors: pluym id. Hum Mol Genet. 2023 Jan 13;32(3):353-356. doi: 10.1093/hmg/ddac084. Hum Mol Genet. 2023. PMID: 35396997 No abstract available.
Fetal cardiac rhabdomyomas treated with maternal sirolimus.
Pluym ID, Sklansky M, Wu JY, Afshar Y, Holliman K, Devore GR, Walden A, Platt LD, Krakow D. Pluym ID, et al. Prenat Diagn. 2020 Feb;40(3):358-364. doi: 10.1002/pd.5613. Epub 2020 Jan 2. Prenat Diagn. 2020. PMID: 31742705
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Melo US, Schöpflin R, Acuna-Hidalgo R, Mensah MA, Fischer-Zirnsak B, Holtgrewe M, Klever MK, Türkmen S, Heinrich V, Pluym ID, Matoso E, Bernardo de Sousa S, Louro P, Hülsemann W, Cohen M, Dufke A, Latos-Bieleńska A, Vingron M, Kalscheuer V, Quintero-Rivera F, Spielmann M, Mundlos S. Melo US, et al. Among authors: pluym id. Am J Hum Genet. 2020 Jun 4;106(6):872-884. doi: 10.1016/j.ajhg.2020.04.016. Epub 2020 May 28. Am J Hum Genet. 2020. PMID: 32470376 Free PMC article.
Obstetrical Unit Response to the COVID-19 Pandemic: OUR Study.
Pluym ID, Rao R, Ballas J, Ramos GA, Cross SN, Zapata M, Srinivas S, Louis JM, Werner E, Afshar Y, Han CS. Pluym ID, et al. Am J Perinatol. 2020 Nov;37(13):1301-1309. doi: 10.1055/s-0040-1715861. Epub 2020 Sep 6. Am J Perinatol. 2020. PMID: 32892329
23 results