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Page 1
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network; Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X. Tokita MJ, et al. Among authors: shuster s. Am J Hum Genet. 2018 Jul 5;103(1):154-162. doi: 10.1016/j.ajhg.2018.06.005. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961569 Free PMC article.
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.
Suzuki Y, Chitayat D, Sawada H, Deardorff MA, McLaughlin HM, Begtrup A, Millar K, Harrington J, Chong K, Roifman M, Grand K, Tominaga M, Takada F, Shuster S, Obara M, Mutoh H, Kushima R, Nishimura G. Suzuki Y, et al. Among authors: shuster s. Am J Hum Genet. 2018 Jun 7;102(6):1104-1114. doi: 10.1016/j.ajhg.2018.04.006. Epub 2018 May 31. Am J Hum Genet. 2018. PMID: 29861107 Free PMC article.
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Alkhunaizi E, et al. Among authors: shuster s. Am J Med Genet A. 2019 Mar;179(3):386-396. doi: 10.1002/ajmg.a.61025. Epub 2019 Jan 16. Am J Med Genet A. 2019. PMID: 30652412
Cell-surface proteomic profiling identifies CD72 as a regulator of microglial tiling.
Chan TC, Rastogi M, Williams MX, Zhang S, Shi SM, Shuken SR, Bartling T, Wild K, Atkins M, Hahn O, Paulo JA, Jereb S, Shuster SA, Yoo Y, Napole A, Hernandez VG, Luo L, Buckwalter MS, Stevens B, Deverman BE, Kronenberg-Versteeg D, Gygi SP, Wyss-Coray T, Wernig M. Chan TC, et al. Among authors: shuster sa. bioRxiv [Preprint]. 2025 Jun 5:2025.06.02.657480. doi: 10.1101/2025.06.02.657480. bioRxiv. 2025. PMID: 40501958 Free PMC article. Preprint.
Psychosis and the self: How spontaneous discussions of subjective experiences compare in the clinical high-risk and first-episode psychosis populations.
Shuster S, Gui Y, McGowan A, Cotter M, Wert IJ, Selloni A, Vaidya S, Neu O, Sarac C, Formica M, Gwyther K, Krcmar M, Spark J, McGorry P, Nelson B, Herrera SN, Corcoran CM. Shuster S, et al. Psychiatr Rehabil J. 2025 Mar;48(1):42-53. doi: 10.1037/prj0000629. Epub 2024 Dec 2. Psychiatr Rehabil J. 2025. PMID: 39621397
563 results