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Page 1
MGA-related syndrome: A proposed novel disorder.
McGivern B, Morrow MM, Torti E, McWalter K, Wentzensen IM, Monaghan KG, Gerard A, Robak L, Chitayat D, Botsford C, Jurgensmeyer S, Leahy P, Kruszka P. McGivern B, et al. Among authors: monaghan kg. HGG Adv. 2024 Nov 26;6(1):100387. doi: 10.1016/j.xhgg.2024.100387. Online ahead of print. HGG Adv. 2024. PMID: 39600096 Free PMC article.
Brain malformations and seizures by impaired chaperonin function of TRiC.
Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, Lee TT, Flex E, Hentschel A, Innes AM, Zheng B, Julia Suh DS, Knopp C, Lausberg E, Krause J, Zhang X, Trapane P, Carroll R, McClatchey M, Fry AE, Wang L, Giesselmann S, Hoang H, Baldridge D, Silverman GA, Radio FC, Bertini E, Ciolfi A, Blood KA, de Sainte Agathe JM, Charles P, Bergant G, Čuturilo G, Peterlin B, Diderich K, Streff H, Robak L, Oegema R, van Binsbergen E, Herriges J, Saunders CJ, Maier A, Wolking S, Weber Y, Lochmüller H, Meyer S, Aleman A, Polavarapu K, Nicolas G, Goldenberg A, Guyant L, Pope K, Hehmeyer KN, Monaghan KG, Quade A, Smol T, Caumes R, Duerinckx S, Depondt C, Van Paesschen W, Rieubland C, Poloni C, Guipponi M, Arcioni S, Meuwissen M, Jansen AC, Rosenblum J, Haack TB, Bertrand M, Gerstner L, Magg J, Riess O, Schulz JB, Wagner N, Wiesmann M, Weis J, Eggermann T, Begemann M, Roos A, Häusler M, Schedl T, Tartaglia M, Bremer J, Pak SC, Frydman J, Elbracht M, Kurth I. Kraft F, et al. Among authors: monaghan kg. Science. 2024 Nov;386(6721):516-525. doi: 10.1126/science.adp8721. Epub 2024 Oct 31. Science. 2024. PMID: 39480921
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. Ziegler A, et al. Among authors: monaghan kg. JAMA. 2024 Oct 24:e2419662. doi: 10.1001/jama.2024.19662. Online ahead of print. JAMA. 2024. PMID: 39446378
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.
Cope HL, Milko LV, Jalazo ER, Crissman BG, Foreman AKM, Powell BC, deJong NA, Hunter JE, Boyea BL, Forsythe AN, Wheeler AC, Zimmerman RS, Suchy SF, Begtrup A, Langley KG, Monaghan KG, Kraczkowski C, Hruska KS, Kruszka P, Kucera KS, Berg JS, Powell CM, Peay HL. Cope HL, et al. Among authors: monaghan kg. Genet Med. 2024 Dec;26(12):101290. doi: 10.1016/j.gim.2024.101290. Epub 2024 Oct 5. Genet Med. 2024. PMID: 39375994
SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?
Malbos M, Vera G, Sheth H, Schnur RE, Juven A, Brehin AC, Sheth J, Gandhi A, Shapiro FL, Bruel AL, Marguet F, Begtrup A, Monaghan KG, Safraou H, Brasseur-Daudruy M, Mau-Them FT, Duffourd Y, Faivre L, Thauvin-Robinet C, Benke PJ, Philippe C. Malbos M, et al. Among authors: monaghan kg. Clin Genet. 2024 Dec;106(6):757-763. doi: 10.1111/cge.14608. Epub 2024 Aug 21. Clin Genet. 2024. PMID: 39169672
Updates on Y-incision aortic annular enlargement.
Yang B, Monaghan K, Hassler K, Brescia A, Yazdchi F. Yang B, et al. Among authors: monaghan k. Ann Cardiothorac Surg. 2024 May 31;13(3):308-310. doi: 10.21037/acs-2023-aae-0140. Epub 2024 Apr 25. Ann Cardiothorac Surg. 2024. PMID: 38841090 Free PMC article. No abstract available.
240 results