Wu-Lin Charng, PhD

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Goodman LD, Cope H, Nil Z, et al. (2021) TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. American Journal of Human Genetics
Bustamante-Marin XM, Horani A, Stoyanova M, et al. (2020) Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. Plos Genetics. 16: e1008691
Wang X, Charng WL, Chen CA, et al. (2017) Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nature Genetics
Harms FL, Girisha KM, Hardigan AA, et al. (2016) Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. American Journal of Human Genetics
Harel T, Yesil G, Bayram Y, et al. (2016) Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. American Journal of Human Genetics. 98: 562-570
David-Morrison G, Xu Z, Rui YN, et al. (2016) WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes. Developmental Cell. 36: 139-51
Wang S, Tan KL, Agosto MA, et al. (2015) Correction: the retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration. Plos Biology. 13: e1002170
Karaca E, Buyukkaya R, Pehlivan D, et al. (2015) Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. The Journal of Clinical Endocrinology and Metabolism. 100: E140-7
Sandoval H, Yao CK, Chen K, et al. (2014) Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production. Elife. 3
Yamamoto S, Jaiswal M, Charng WL, et al. (2014) A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 159: 200-14