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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12.
Am J Hum Genet. 2024.
PMID: 38479391
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.
Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA Jr, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK.
Griffin EL, et al.
Circ Genom Precis Med. 2023 Apr;16(2):e003791. doi: 10.1161/CIRCGEN.122.003791. Epub 2023 Feb 21.
Circ Genom Precis Med. 2023.
PMID: 36803080
Free PMC article.
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LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H; Care4Rare Canada; Chung WK, Zweier C.
Schmid CM, et al.
Genet Med. 2023 Jul;25(7):100839. doi: 10.1016/j.gim.2023.100839. Epub 2023 Apr 11.
Genet Med. 2023.
PMID: 37057675
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Neurodevelopment of children exposed to prolonged anesthesia in infancy: GABA study interim analysis of resting-state brain networks at 2, 4, and 10-months old.
Desowska A, Coffman S, Kim I, Underwood E, Tao A, Lopez KL, Nelson CA, Hensch TK, Gabard-Durnam L, Cornelissen L, Berde CB.
Desowska A, et al.
Neuroimage Clin. 2024;42:103614. doi: 10.1016/j.nicl.2024.103614. Epub 2024 May 4.
Neuroimage Clin. 2024.
PMID: 38754325
Free PMC article.
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Impact of preheart transplant spirometry and DCLO measurement on post-transplant pulmonary outcomes.
Tao A, Raikhelkar J, Benvenuto L, Topkara VK, Brenner K, Fried J, Salako O, Colombo PC, Yuzefpolskaya M, Takeda K, Restaino S, Latif F, Uriel N, Sayer GT, Clerkin KJ.
Tao A, et al.
J Heart Lung Transplant. 2023 Jun;42(6):819-827. doi: 10.1016/j.healun.2023.01.008. Epub 2023 Jan 28.
J Heart Lung Transplant. 2023.
PMID: 36806438
Free PMC article.
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