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The Project Baseline Health Study: a step towards a broader mission to map human health.
Arges K, Assimes T, Bajaj V, Balu S, Bashir MR, Beskow L, Blanco R, Califf R, Campbell P, Carin L, Christian V, Cousins S, Das M, Dockery M, Douglas PS, Dunham A, Eckstrand J, Fleischmann D, Ford E, Fraulo E, French J, Gambhir SS, Ginsburg GS, Green RC, Haddad F, Hernandez A, Hernandez J, Huang ES, Jaffe G, King D, Koweek LH, Langlotz C, Liao YJ, Mahaffey KW, Marcom K, Marks WJ Jr, Maron D, McCabe R, McCall S, McCue R, Mega J, Miller D, Muhlbaier LH, Munshi R, Newby LK, Pak-Harvey E, Patrick-Lake B, Pencina M, Peterson ED, Rodriguez F, Shore S, Shah S, Shipes S, Sledge G, Spielman S, Spitler R, Schaack T, Swamy G, Willemink MJ, Wong CA. Arges K, et al. Among authors: miller d. NPJ Digit Med. 2020 Jun 5;3:84. doi: 10.1038/s41746-020-0290-y. eCollection 2020. NPJ Digit Med. 2020. PMID: 32550652 Free PMC article. Review.
[No title available]
[No authors listed] [No authors listed] PMID: 33597683
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J. Mullegama SV, et al. Among authors: miller de. Am J Hum Genet. 2024 May 14:S0002-9297(24)00167-8. doi: 10.1016/j.ajhg.2024.05.004. Online ahead of print. Am J Hum Genet. 2024. PMID: 38749428 No abstract available.
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