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Journal of Personalized Medicine|February 25, 2022
Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene TherapyYung-Chun Wang, Yuchang Wu, Julie Choi, et al.Human Genome Variation|December 27, 2016
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformationDaniel Duran, Sheng Chih Jin, Tyrone DeSpenza, et al.Hepatology (Baltimore, Md.)|April 1, 2024
Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiencyEdgar N Tafaleng, Jie Li, Yan Wang, et al.Proceedings of the National Academy of Sciences of the United States of America|July 12, 2019
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosisAndrew T Timberlake, Sheng Chih Jin, Carol Nelson-Williams, et al.American Journal of Human Genetics|April 22, 2023
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosisAndrew T Timberlake, Stephen McGee, Garrett Allington, et al.Brain : a Journal of Neurology|December 16, 2024
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegalyGarrett Allington, Neel H Mehta, Evan Dennis, et al.Molecular Neurodegeneration|April 18, 2015
TREM2 is associated with increased risk for Alzheimer's disease in African AmericansSheng Chih Jin, Minerva M Carrasquillo, Bruno A Benitez, et al.Journal of Lipid Research|April 23, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemiaWeilai Dong, Karen H Y Wong, Youbin Liu, et al.The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|November 15, 2011
The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft PalateHong Wang, Tianxiao Zhang, Tao Wu, et al.Human Genetics|August 23, 2022
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosisAndrew T Timberlake, Emre Kiziltug, Sheng Chih Jin, et al.Pageof 10