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Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M, Savatt JM, Bingaman TI, Good ME, Morgan A, Cooney C, Rossel AM, VanHoute B, Cordova I, Mahida S, Lanzotti V, Baldridge D, Gurnett CA, Piven J, Hazlett H, Pomeroy SL, Sahin M, Payne PRO, Riggs ER, Constantino JN; Brain Gene Registry Consortium. Chopra M, et al. Genet Med. 2024 Mar;26(3):101035. doi: 10.1016/j.gim.2023.101035. Epub 2023 Dec 4. Genet Med. 2024. PMID: 38059438 Free PMC article.
The Brain Gene Registry: a data snapshot.
Baldridge D, Kaster L, Sancimino C, Srivastava S, Molholm S, Gupta A, Oh I, Lanzotti V, Grewal D, Riggs ER, Savatt JM, Hauck R, Sveden A; Brain Gene Registry Consortium; Constantino JN, Piven J, Gurnett CA, Chopra M, Hazlett H, Payne PRO. Baldridge D, et al. J Neurodev Disord. 2024 Apr 17;16(1):17. doi: 10.1186/s11689-024-09530-3. J Neurodev Disord. 2024. PMID: 38632549 Free PMC article.
Outcome measures for clinical trials in fragile X syndrome.
Berry-Kravis E, Hessl D, Abbeduto L, Reiss AL, Beckel-Mitchener A, Urv TK; Outcome Measures Working Groups. Berry-Kravis E, et al. J Dev Behav Pediatr. 2013 Sep;34(7):508-22. doi: 10.1097/DBP.0b013e31829d1f20. J Dev Behav Pediatr. 2013. PMID: 24042082 Free PMC article.
Neighborhood Food Access in Early Life and Trajectories of Child Body Mass Index and Obesity.
Aris IM, Wu AJ, Lin PD, Zhang M, Farid H, Hedderson MM, Zhu Y, Ferrara A, Chehab RF, Barrett ES, Carnell S, Camargo CA Jr, Chu SH, Mirzakhani H, Kelly RS, Comstock SS, Strakovsky RS, O'Connor TG, Ganiban JM, Dunlop AL, Dabelea D, Breton CV, Bastain TM, Farzan SF, Call CC, Hartert T, Snyder B, Santarossa S, Cassidy-Bushrow AE, O'Shea TM, McCormack LA, Karagas MR, McEvoy CT, Alshawabkeh A, Zimmerman E, Wright RJ, McCann M, Wright RO, Coull B, Amutah-Onukagha N, Hacker MR, James-Todd T, Oken E; ECHO Cohort Consortium. Aris IM, et al. JAMA Pediatr. 2024 Nov 1;178(11):1172-1182. doi: 10.1001/jamapediatrics.2024.3459. JAMA Pediatr. 2024. PMID: 39283628
Fragile X syndrome.
Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB Jr, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ. Hagerman RJ, et al. Among authors: hazlett hc. Nat Rev Dis Primers. 2017 Sep 29;3:17065. doi: 10.1038/nrdp.2017.65. Nat Rev Dis Primers. 2017. PMID: 28960184 Review.
110 results