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Page 1
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.
Ron HA, Crowley TB, Liu Y, Unolt M, Schindewolf E, Moldenhauer J, Rychik J, Goldmuntz E, Emanuel BS, Ryba D, Gaynor JW, Zackai EH, Hakonarson H, McDonald-McGinn DM. Ron HA, et al. Among authors: hakonarson h. Genes (Basel). 2022 Dec 24;14(1):62. doi: 10.3390/genes14010062. Genes (Basel). 2022. PMID: 36672801 Free PMC article.
Childhood exposures to environmental chemicals and neurodevelopmental outcomes in congenital heart disease.
Gaynor JW, Burnham NB, Ittenbach RF, Gerdes M, Bernbaum JC, Zackai E, Licht DJ, Russell WW, Zullo EE, Miller T, Hakonarson H, Clarke KA, Jarvik GP, Calafat AM, Bradman A, Bellinger DC, Henretig FM, Coker ES. Gaynor JW, et al. Among authors: hakonarson h. PLoS One. 2022 Nov 17;17(11):e0277611. doi: 10.1371/journal.pone.0277611. eCollection 2022. PLoS One. 2022. PMID: 36395323 Free PMC article.
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. Snijders Blok L, et al. Among authors: hakonarson h. HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36408368 Free PMC article.
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H. Sheppard SE, et al. Among authors: hakonarson h. JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888. JCI Insight. 2023. PMID: 37154160 Free PMC article.
Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study.
Martin K, Norton ME, MacPherson C, Demko Z, Egbert M, Haeri S, Malone F, Wapner RJ, Roman AS, Khalil A, Faro R, Madankumar R, Strong N, Silver R, Vohra N, Hyett J, Kao C, Hakonarson H, Jacobson B, Dar P. Martin K, et al. Among authors: hakonarson h. Prenat Diagn. 2023 Dec;43(13):1574-1580. doi: 10.1002/pd.6483. Epub 2023 Dec 8. Prenat Diagn. 2023. PMID: 38066724
An analysis of differential gene expression in peripheral nerve and muscle utilizing RNA sequencing after polyethylene glycol nerve fusion in a rat sciatic nerve injury model.
Weiss SN, Legato JM, Liu Y, Vaccaro CN, Da Silva RP, Miskiel S, Gilbert GV, Hakonarson H, Fuller DA, Buono RJ. Weiss SN, et al. Among authors: hakonarson h. PLoS One. 2024 Sep 4;19(9):e0304773. doi: 10.1371/journal.pone.0304773. eCollection 2024. PLoS One. 2024. PMID: 39231134 Free PMC article.
Genomic Disorders in CKD across the Lifespan.
Verbitsky M, Krishnamurthy S, Krithivasan P, Hughes D, Khan A, Marasà M, Vena N, Khosla P, Zhang J, Lim TY, Glessner JT, Weng C, Shang N, Shen Y, Hripcsak G, Hakonarson H, Ionita-Laza I, Levy B, Kenny EE, Loos RJF, Kiryluk K, Sanna-Cherchi S, Crosslin DR, Furth S, Warady BA, Igo RP Jr, Iyengar SK, Wong CS, Parsa A, Feldman HI, Gharavi AG. Verbitsky M, et al. Among authors: hakonarson h. J Am Soc Nephrol. 2023 Apr 1;34(4):607-618. doi: 10.1681/ASN.2022060725. Epub 2022 Oct 27. J Am Soc Nephrol. 2023. PMID: 36302597 Free PMC article.
1,064 results