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Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D, Amor DJ, Boggs K, Baker N, Barnett C, de Silva MG, Edwards S, Fahey MC, Marum JE, Snell P, Bozaoglu K, Pope K, Mohammad SS, Riney K, Sachdev R, Scheffer IE, Schenscher S, Silberstein J, Smith N, Tom M, Ware TL, Lockhart PJ, Leventer RJ. Kooshavar D, et al. Among authors: sachdev r. Brain Commun. 2024 Feb 28;6(2):fcae056. doi: 10.1093/braincomms/fcae056. eCollection 2024. Brain Commun. 2024. PMID: 38444904 Free PMC article.
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
Harms FL, Rexach JE, Efthymiou S, Aynekin B, Per H, Güleç A, Nampoothiri S, Sampaio H, Sachdev R, Stoeva R, Myers K, Pena LDM, Kalfa TA, Chard M, Klassen M, Pries M, Kutsche K. Harms FL, et al. Among authors: sachdev r. Eur J Hum Genet. 2024 Feb 19. doi: 10.1038/s41431-024-01563-5. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38374468
Child Neurodevelopment After Multidomain Interventions From Preconception Through Early Childhood: The WINGS Randomized Clinical Trial.
Upadhyay RP, Taneja S, Chowdhury R, Dhabhai N, Sapra S, Mazumder S, Sharma S, Tomlinson M, Dua T, Chellani H, Dewan R, Mittal P, Bhan MK, Bhandari N; Women and Infants Integrated Interventions for Growth Study (WINGS) Group. Upadhyay RP, et al. JAMA. 2024 Jan 2;331(1):28-37. doi: 10.1001/jama.2023.23727. JAMA. 2024. PMID: 38165408 Clinical Trial.
308 results