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Page 1
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Bowling KM, Thompson ML, Finnila CR, Hiatt SM, Latner DR, Amaral MD, Lawlor JMJ, East KM, Cochran ME, Greve V, Kelley WV, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kandasamy J, Carlo W, Brothers KB, Kirmse BM, Savich R, Superneau D, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM. Bowling KM, et al. Among authors: patrick esteve j. Genet Med. 2022 Apr;24(4):851-861. doi: 10.1016/j.gim.2021.11.020. Epub 2021 Nov 27. Genet Med. 2022. PMID: 34930662 Free PMC article.
A novel missense variant in CHD7, a rare cause of CHARGE syndrome.
Joslyn P, Meddaugh H, Torres J, Patrick-Esteve J, Olister S, Mumphrey C, Zambrano R. Joslyn P, et al. Among authors: patrick esteve j. Clin Dysmorphol. 2020 Jul;29(3):158-160. doi: 10.1097/MCD.0000000000000315. Clin Dysmorphol. 2020. PMID: 31929333 No abstract available.
Social Determinants of Health Curriculum for the Pediatric Clerkship.
Roth C, Prudhomme A, Griese K, Beyl R, Patrick-Esteve J. Roth C, et al. Among authors: patrick esteve j. MedEdPORTAL. 2024 Oct 29;20:11458. doi: 10.15766/mep_2374-8265.11458. eCollection 2024. MedEdPORTAL. 2024. PMID: 39473434 Free PMC article.
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
Lemke AA, Thompson ML, Gimpel EC, McNamara KC, Rich CA, Finnila CR, Cochran ME, Lawlor JMJ, East KM, Bowling KM, Latner DR, Hiatt SM, Amaral MD, Kelley WV, Greve V, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Hughes T, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kirmse BM, Savich R, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM, Brothers KB. Lemke AA, et al. Among authors: patrick esteve j. J Pers Med. 2023 Jun 21;13(7):1026. doi: 10.3390/jpm13071026. J Pers Med. 2023. PMID: 37511639 Free PMC article.
Maternal and Newborn Hospital Outcomes of Perinatal SARS-CoV-2 Infection: A National Registry.
Hudak ML, Flannery DD, Barnette K, Getzlaff T, Gautam S, Dhudasia MB, Mukhopadhyay S, Pfeifer MR, Ellington SR, Galang RR, Snead MC, Woodworth KR, Zapata LB, Puopolo KM; AMERICAN ACADEMY OF PEDIATRICS NPC-19 REGISTRY INVESTIGATORS. Hudak ML, et al. Pediatrics. 2023 Feb 1;151(2):e2022059595. doi: 10.1542/peds.2022-059595. Pediatrics. 2023. PMID: 36995183 Free PMC article.