Genetics

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

Ziegler A, Koval-Burt C, Kay DM, Suchy SF, Begtrup A, Langley KG, Hernan R, Amendola LM, Boyd BM, Bradley J, Brandt T, Cohen LL, Coffey AJ, Devaney JM, Dygulska B, Friedman B, Fuleihan RL, Gyimah A, Hahn S, Hofherr S, Hruska KS, Hu Z, Jeanne M, Jin G, Johnson DA, Kavus H, Leibel RL, Lobritto SJ, McGee S, Milner JD, McWalter K, Monaghan KG, Orange JS, Pimentel Soler N, Quevedo Y, Ratner S, Retterer K, Shah A, Shapiro N, Sicko RJ, Silver ES, Strom S, Torene RI, Williams O, Ustach VD, Wynn J, Taft RJ, Kruszka P, Caggana M, Chung WK.JAMA. 2024 Oct 24:e2419662. doi: 10.1001/jama.2024.19662. Online ahead of print.PMID: 39446378

Genetic disorders and their association with morbidity and mortality in early preterm small for gestational age infants.

Bomback M, Everett S, Lyford A, Sahni R, Kim F, Baptiste C, Motelow JE, Tolia V, Clark R, Dugoff L, Hays T.Am J Obstet Gynecol. 2024 Sep 23:S0002-9378(24)01013-5. doi: 10.1016/j.ajog.2024.09.101. Online ahead of print.PMID: 39322018

Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.

Keisling J, Bedoukian E, Burstein DS, Gaynor JW, Gray C, Krantz I, Izumi K, Leonard J, Lin KY, Medne L, Seymour C, Skraban C, Ritter A, Ahrens-Nicklas RC.J Pediatr. 2023 Nov 1:113808. doi: 10.1016/j.jpeds.2023.113808. Online ahead of print.PMID: 37923198

Characteristics, Genetic Testing, and Diagnoses of Infants with Neonatal Encephalopathy Not Due to Hypoxic Ischemic Encephalopathy: A Cohort Study.

Lenahan A, Mietzsch U, Wood TR, Callahan KP, Weiss EM, Miller DE, German K, Natarajan N, Puia-Dumitrescu M, Esposito V, Kolnik S, Law JB.J Pediatr. 2023 Jun 1;260:113533. doi: 10.1016/j.jpeds.2023.113533. Online ahead of print.PMID: 37269901

Detection and impact of genetic disease in a level IV neonatal intensive care unit.

Hagen L, Khattar D, Whitehead K, He H, Swarr DT, Suhrie K.J Perinatol. 2022 May;42(5):580-588. doi: 10.1038/s41372-022-01338-0. Epub 2022 Feb 18.

Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care.

McDermott JH, Mahaveer A, James RA, Booth N, Turner M, Harvey KE, Miele G, Beaman GM, Stoddard DC, Tricker K, Corry RJ, Garlick J, Ainsworth S, Beevers T, Bruce IA, Body R, Ulph F, MacLeod R, Roberts PL, Wilson PM, Newman WG; PALOH Study Team.JAMA Pediatr. 2022 May 1;176(5):486-492. doi: 10.1001/jamapediatrics.2022.0187.

Influence of Genetic Information on Neonatologists' Decisions: A Psychological Experiment.

Callahan KP, Flibotte J, Skraban C, Wild KT, Joffe S, Munson D, Feudtner C.Pediatrics. 2022 Mar 1;149(3):e2021052130. doi: 10.1542/peds.2021-052130.

📑 Journal Club Articles

Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease.

Musunuru K, Grandinette SA, Wang X, Hudson TR, Briseno K, Berry AM, Hacker JL, Hsu A, Silverstein RA, Hille LT, Ogul AN, Robinson-Garvin NA, Small JC, McCague S, Burke SM, Wright CM, Bick S, Indurthi V, Sharma S, Jepperson M, Vakulskas CA, Collingwood M, Keogh K, Jacobi A, Sturgeon M, Brommel C, Schmaljohn E, Kurgan G, Osborne T, Zhang H, Kinney K, Rettig G, Barbosa CJ, Semple SC, Tam YK, Lutz C, George LA, Kleinstiver BP, Liu DR, Ng K, Kassim SH, Giannikopoulos P, Alameh MG, Urnov FD, Ahrens-Nicklas RC.N Engl J Med.2025 Jun 12;392(22):2235-2243. doi: 10.1056/NEJMoa2504747. Epub 2025 May 15.PMID: 40373211