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Author

K. Weaver

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Open access Aug 2026

Involvement of tumor suppressor candidate 3 in mouse survival, craniofacial, and cortical development

Abstract Tumor suppressor candidate 3 is an integral component of the oligosaccharyltransferase complex and is required for the N-glycosylation of proteins. While tumor suppressor candidate 3 has been implicated in cancer and autosomal recessive non-syndromic intellectual disability, some patients also exhibit distinct...

P. Iyyanar, Andrew M. Vontell, Ammar Husami et al. · 0 citations
#gene editing Open access Sep 2026

Synergistic Variants in C-terminal Binding Protein 1 and Alkaline Phosphatase Lead to Mandibular Hypoplasia Through Impaired Wnt Signaling: An Oligogenic Model

A novel role for Ctbp1 is uncovered in craniofacial development and the complex genetic and molecular signaling in the pathogenesis of craniofacial malformations is highlighted.

P. Iyyanar, Beulah Solivio, K. Weaver et al. · 0 citations
Review Open access Sep 2026

The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1-Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature.

The cohort highlights novel findings, including the co-occurrence of AD LZTR1-NS with 22q11.2 deletion and two patients with AR NS with features suggestive of schwannomatosis, which expand the clinical spectrum of LZTR1-NS and have important implications for diagnosis, surveillance, and genetic counseling.

H. Jaouadi, Şakir Hicazi, Carolyn R. Raski et al. · 0 citations
Open access Jan 2026

Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders

DNA methylation analysis revealed epigenetic differences between CHD and NDD patients, with CHD patients showing elevated biological age acceleration and the findings highlight the diagnostic and mechanistic value of integrative multiomic profiling in paediatric developmental disease cohorts.

Jamie-Lee M. Thompson, Yun-Kai Gao, Eri Iwasawa et al. · 0 citations

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