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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.
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.
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
Approach for defining human adenovirus infection and disease for central review adjudication in clinical studies.
Fisher BT, Blumenstock J, Boge CLK, Shuster S, Seif AE, Green M, Michaels MG, Alexander JL, Ardura MI, Miller TP, Hijano DR, Muller WJ, Schuster JE, Green AM, Dulek DE, Kajon AE, Danziger-Isakov L. Fisher BT, et al. Among authors: shuster s. Pediatr Transplant. 2024 May;28(3):e14750. doi: 10.1111/petr.14750. Pediatr Transplant. 2024. PMID: 38623880
A feasibility and pilot trial of the Brief Educational Guide for Individuals in Need (BEGIN): Psychoeducation for individuals at risk for psychosis.
Herrera SN, Sarac C, Vaidya SA, Shuster S, Lyallpuri R, Dobbs MF, Gorman J, Phili A, Mcgowan A, Portner S, Mikelic M, Jespersen R, Deluca JS, Lim KY, Yang LH, Wyka K, Landa Y, Corcoran CM. Herrera SN, et al. Among authors: shuster s. Psychol Serv. 2024 Feb 8. doi: 10.1037/ser0000843. Online ahead of print. Psychol Serv. 2024. PMID: 38330313
549 results