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Did you mean son bigby c (1 results)?
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Among authors: son rigby c. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial.
Reimers R, Bailey M, Brown C, Chan K, Defay T, Finkel T, Kahn S, Protopsaltis L, Stoddard L, Talati AJ, Wigby K, Akil ASA, Wright M, Kingsmore SF; BeginNGS Consortium. Reimers R, et al. BMJ Open. 2025 Nov 13;15(11):e098609. doi: 10.1136/bmjopen-2024-098609. BMJ Open. 2025. PMID: 41238356 Free PMC article. Clinical Trial.
The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.
Zigler CK, McFatrich M, Lucas N, Plyler K, Zapata-Leiva L, Gordon K, Jones HN, Lin L, Kern J, Radar A, Chen D, Bergelson E, Still K, Hinger B, Delagrammatikas CG, Poliquin S, Short BP, Marfia-Ash L, Stephens K, Oyler HO, Graglia JM, Worth K, Son Rigby C, Goss JR, Bigelow B, Bliss G, Beatty K, Schust Myers L, Thelen M, Summerfield N, Bichell TJ, Reeve BB. Zigler CK, et al. Among authors: son rigby c. J Child Psychol Psychiatry. 2025 Oct 20. doi: 10.1111/jcpp.70063. Online ahead of print. J Child Psychol Psychiatry. 2025. PMID: 41114730