| Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ... Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017 | 276 | 2017 |
| 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 |
| Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ... The American Journal of Human Genetics 99 (4), 831-845, 2016 | 171 | 2016 |
| Nanoparticle delivery of stable miR-199a-5p agomir improves the osteogenesis of human mesenchymal stem cells via the HIF1a pathway X Chen, S Gu, BF Chen, WL Shen, Z Yin, GW Xu, JJ Hu, T Zhu, G Li, ... Biomaterials 53, 239-250, 2015 | 124 | 2015 |
| 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 |
| 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 | 104 | 2016 |
| Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene MR Bekheirnia, N Bekheirnia, MN Bainbridge, S Gu, ZH Coban Akdemir, ... Genetics in Medicine 19 (4), 412-420, 2017 | 99 | 2017 |
| Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 S Gu, BO Yuan, IM Campbell, CR Beck, CMB Carvalho, SCS Nagamani, ... Human molecular genetics 24 (14), 4061-4077, 2015 | 96 | 2015 |
| Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements X Song, CR Beck, R Du, IM Campbell, Z Coban-Akdemir, S Gu, ... Genome Research 28 (8), 1228-1242, 2018 | 86 | 2018 |
| The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance D Pehlivan, Y Bayram, N Gunes, ZC Akdemir, A Shukla, T Bierhals, ... The American Journal of Human Genetics 105 (1), 132-150, 2019 | 84 | 2019 |
| Whole-exome sequencing in familial Parkinson disease JL Farlow, LA Robak, K Hetrick, K Bowling, E Boerwinkle, ... JAMA neurology 73 (1), 68-75, 2016 | 80 | 2016 |
| Flexible and versatile as a chameleon—sophisticated functions of microRNA-199a S Gu, WY Chan International journal of molecular sciences 13 (7), 8449-8466, 2012 | 79 | 2012 |
| microRNA-199a-3p, DNMT3A, and aberrant DNA methylation in testicular cancer BF Chen, S Gu, YK Suen, L Li, WY Chan Epigenetics 9 (1), 119-128, 2014 | 66 | 2014 |
| A miR-199a/miR-214 self-regulatory network via PSMD10, TP53 and DNMT1 in testicular germ cell tumor BF Chen, YK Suen, S Gu, L Li, WY Chan Scientific reports 4 (1), 6413, 2014 | 63 | 2014 |
| Genetic architecture of laterality defects revealed by whole exome sequencing AH Li, NA Hanchard, M Azamian, LCA D’Alessandro, Z Coban-Akdemir, ... European Journal of Human Genetics 27 (4), 563-573, 2019 | 61 | 2019 |
| 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 |
| Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases AV Dharmadhikari, R Ghosh, BO Yuan, P Liu, H Dai, S Al Masri, J Scull, ... Genome medicine 11, 1-17, 2019 | 51 | 2019 |
| Mechanisms for complex chromosomal insertions S Gu, P Szafranski, ZC Akdemir, B Yuan, ML Cooper, MA Magriñá, ... PLoS Genetics 12 (11), e1006446, 2016 | 47 | 2016 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 46 | 2022 |
| Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death PM Boone, B Yuan, S Gu, Z Ma, T Gambin, C Gonzaga‐Jauregui, M Jain, ... Molecular genetics & genomic medicine 4 (1), 77-94, 2016 | 34 | 2016 |
