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Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies.
Prenner JL, Binenbaum G, Carpentieri DF, Goldstein SM, Douglas RS, Ruchelli E, Katowitz JA, Hertle RW. Prenner JL, et al. Among authors: carpentieri df. Br J Ophthalmol. 2002 Apr;86(4):472-3. doi: 10.1136/bjo.86.4.472. Br J Ophthalmol. 2002. PMID: 11914220 Free PMC article. No abstract available.
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Claire Hou YC, Evenson MJ, Corliss MM, Mahapatra L, Aldawood A, Carpentieri DF, Chamlin SL, Kulungowski AM, Madan-Khetarpal S, Sebastian J, Pet MA, Coughlin CC, Willing MC, Pearson GD, Setty BA, El-Haffaf Z, Cottrell CE, Parikh BA, Krysiak K, Schroeder MC, Heusel JW, Neidich JA, Cao Y. Claire Hou YC, et al. Among authors: carpentieri df. Genet Med. 2023 Mar;25(3):100348. doi: 10.1016/j.gim.2022.11.016. Epub 2022 Dec 7. Genet Med. 2023. PMID: 36571464 Free article.
Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis.
Brister D, Werner BA, Gideon G, McCarty PJ, Lane A, Burrows BT, McLees S, Adelson PD, Arango JI, Marsh W, Flores A, Pankratz MT, Ly NH, Flood M, Brown D, Carpentieri D, Jin Y, Gu H, Frye RE. Brister D, et al. Among authors: carpentieri d. Metabolites. 2022 Apr 20;12(5):371. doi: 10.3390/metabo12050371. Metabolites. 2022. PMID: 35629876 Free PMC article.
Cryopreservation of Ovarian Tissue for Pediatric Fertility.
Hinkle K, Orwig KE, Valli-Pulaski H, Taylor S, van Leeuwen K, Carpentieri D, Walsh A. Hinkle K, et al. Among authors: carpentieri d. Biopreserv Biobank. 2021 Apr;19(2):130-135. doi: 10.1089/bio.2020.0124. Epub 2021 Apr 12. Biopreserv Biobank. 2021. PMID: 33847512
Special Issue on Biobanking for Pediatric Research.
Carpentieri D, Catchpoole D, Vercauteren S. Carpentieri D, et al. Biopreserv Biobank. 2021 Apr;19(2):97. doi: 10.1089/bio.2021.29083.djc. Epub 2021 Mar 26. Biopreserv Biobank. 2021. PMID: 33769886 No abstract available.
Mind the Quality Gap When Banking on Dry Blood Spots.
Carpentieri D, Colvard A, Petersen J, Marsh W, David-Dirgo V, Huentelman M, Pirrotte P, Sivakumaran TA. Carpentieri D, et al. Biopreserv Biobank. 2021 Apr;19(2):136-142. doi: 10.1089/bio.2020.0131. Epub 2021 Feb 9. Biopreserv Biobank. 2021. PMID: 33567235 Review.
55 results