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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: konstantino m. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.
Deniz E, Pasha M, Guerra ME, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani SA, Medne L, Skraban C, Krantz I, Khokha MK. Deniz E, et al. Among authors: konstantino m. Dev Biol. 2023 Jul;499:75-88. doi: 10.1016/j.ydbio.2023.04.006. Epub 2023 May 10. Dev Biol. 2023. PMID: 37172641 Free PMC article.
Trends in sex differences in neurodevelopmental outcomes among extremely preterm infants.
Boghossian NS, Mack NA, Bell EF, Tan S, Stoll BJ, Rysavy MA, Ambalavanan N, Tyson JE, Das A, Hintz SR; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Boghossian NS, et al. Arch Dis Child Fetal Neonatal Ed. 2024 Sep 20:fetalneonatal-2024-327239. doi: 10.1136/archdischild-2024-327239. Online ahead of print. Arch Dis Child Fetal Neonatal Ed. 2024. PMID: 39288987
Surgical Necrotizing Enterocolitis and Spontaneous Intestinal Perforation Lead to Severe Growth Failure in Infants.
Speer AL, Lally KP, Pedroza C, Zhang Y, Poindexter BB, Chwals WJ, Hintz SR, Besner GE, Stevenson DK, Ohls RK, Truog WE, Stoll BJ, Rysavy MA, Das A, Tyson JE, Blakely ML; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Speer AL, et al. Ann Surg. 2024 Sep 1;280(3):432-443. doi: 10.1097/SLA.0000000000006378. Epub 2024 Jun 7. Ann Surg. 2024. PMID: 39264354
Incidence of and Neurodevelopmental Outcomes After Late-Onset Meningitis Among Children Born Extremely Preterm.
Brumbaugh JE, Bell EF, Do BT, Greenberg RG, Stoll BJ, DeMauro SB, Harmon HM, Hintz SR, Das A, Puopolo KM; Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Brumbaugh JE, et al. JAMA Netw Open. 2022 Dec 1;5(12):e2245826. doi: 10.1001/jamanetworkopen.2022.45826. JAMA Netw Open. 2022. PMID: 36480199 Free PMC article.
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
Al-Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang YH, Spencer-Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. Al-Ali S, et al. Among authors: konstantino m. Am J Med Genet A. 2022 Oct;188(10):2869-2878. doi: 10.1002/ajmg.a.62918. Epub 2022 Jul 28. Am J Med Genet A. 2022. PMID: 35899841 Free PMC article.
122 results