| A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases S Yamamoto, M Jaiswal, WL Charng, T Gambin, E Karaca, G Mirzaa, ... Cell 159 (1), 200-214, 2014 | 399 | 2014 |
| Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ... The Journal of clinical investigation 125 (2), 636-651, 2015 | 180 | 2015 |
| Endocytosis and intracellular trafficking of Notch and its ligands S Yamamoto, WL Charng, HJ Bellen Current topics in developmental biology 92, 165-200, 2010 | 146 | 2010 |
| Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort T Gambin, ZC Akdemir, B Yuan, S Gu, T Chiang, C Carvalho, C Shaw, ... Nucleic acids research 45 (4), 1633-1648, 2017 | 116 | 2017 |
| Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production H Sandoval, CK Yao, K Chen, M Jaiswal, T Donti, YQ Lin, V Bayat, ... Elife 3, e03558, 2014 | 111 | 2014 |
| A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands S Yamamoto, WL Charng, NA Rana, S Kakuda, M Jaiswal, V Bayat, ... Science 338 (6111), 1229-1232, 2012 | 107 | 2012 |
| Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate WL Charng, E Karaca, Z Coban Akdemir, T Gambin, MM Atik, S Gu, ... BMC medical genomics 9, 1-14, 2016 | 105 | 2016 |
| Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin Y Bayram, E Karaca, ZC Akdemir, EO Yilmaz, GA Tayfun, H Aydin, ... The Journal of clinical investigation 126 (2), 762-778, 2016 | 104 | 2016 |
| Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells B Xiong, V Bayat, M Jaiswal, K Zhang, H Sandoval, WL Charng, T Li, ... PLoS biology 10 (12), e1001438, 2012 | 100 | 2012 |
| Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome E Karaca, R Buyukkaya, D Pehlivan, WL Charng, KO Yaykasli, Y Bayram, ... The Journal of Clinical Endocrinology & Metabolism 100 (1), E140-E147, 2015 | 85 | 2015 |
| De novo GMNN mutations cause autosomal-dominant primordial dwarfism associated with Meier-Gorlin syndrome LC Burrage, WL Charng, MK Eldomery, JR Willer, EE Davis, ... The American Journal of Human Genetics 97 (6), 904-913, 2015 | 78 | 2015 |
| The retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration S Wang, KL Tan, MA Agosto, B Xiong, S Yamamoto, H Sandoval, ... PLoS biology 12 (4), e1001847, 2014 | 78 | 2014 |
| Large-scale identification of chemically induced mutations in Drosophila melanogaster NA Haelterman, L Jiang, Y Li, V Bayat, H Sandoval, B Ugur, KL Tan, ... Genome research 24 (10), 1707-1718, 2014 | 76 | 2014 |
| Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism FL Harms, KM Girisha, AA Hardigan, F Kortüm, A Shukla, M Alawi, A Dalal, ... The American Journal of Human Genetics 100 (1), 117-127, 2017 | 73 | 2017 |
| Monoallelic and biallelic variants in EMC1 identified in individuals with global developmental delay, hypotonia, scoliosis, and cerebellar atrophy T Harel, G Yesil, Y Bayram, Z Coban-Akdemir, WL Charng, E Karaca, ... The American Journal of Human Genetics 98 (3), 562-570, 2016 | 72 | 2016 |
| The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit K Zhang, Z Li, M Jaiswal, V Bayat, B Xiong, H Sandoval, WL Charng, ... Journal of Cell Biology 200 (6), 807-820, 2013 | 64 | 2013 |
| WAC regulates mTOR activity by acting as an adaptor for the TTT and Pontin/Reptin complexes G David-Morrison, Z Xu, YN Rui, WL Charng, M Jaiswal, S Yamamoto, ... Developmental cell 36 (2), 139-151, 2016 | 58 | 2016 |
| MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death MK Eldomery, ZC Akdemir, FN Vögtle, WL Charng, P Mulica, ... Genome Medicine 8, 1-13, 2016 | 55 | 2016 |
| Drosophila Tempura, a Novel Protein Prenyltransferase α Subunit, Regulates Notch Signaling Via Rab1 and Rab11 WL Charng, S Yamamoto, M Jaiswal, V Bayat, B Xiong, K Zhang, ... PLoS biology 12 (1), e1001777, 2014 | 54 | 2014 |
| Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations X Wang, WL Charng, CA Chen, JA Rosenfeld, A Al Shamsi, L Al-Gazali, ... Nature genetics 49 (4), 613-617, 2017 | 49 | 2017 |
