| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 310 | 2017 |
| Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder JY An, K Lin, L Zhu, DM Werling, S Dong, H Brand, HZ Wang, X Zhao, ... Science 362 (6420), eaat6576, 2018 | 269 | 2018 |
| An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder DM Werling, H Brand, JY An, MR Stone, L Zhu, JT Glessner, RL Collins, ... Nature genetics 50 (5), 727-736, 2018 | 261 | 2018 |
| Dissecting the causal mechanism of X-linked dystonia-parkinsonism by integrating genome and transcriptome assembly T Aneichyk, WT Hendriks, R Yadav, D Shin, D Gao, CA Vaine, RL Collins, ... Cell 172 (5), 897-909. e21, 2018 | 205 | 2018 |
| Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome RL Collins, H Brand, CE Redin, C Hanscom, C Antolik, MR Stone, ... Genome biology 18, 1-21, 2017 | 197 | 2017 |
| SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ND Shaw, H Brand, ZA Kupchinsky, H Bengani, L Plummer, TI Jones, ... Nature genetics 49 (2), 238-248, 2017 | 165 | 2017 |
| Relationships between SARS-CoV-2 in wastewater and COVID-19 clinical cases and hospitalizations, with and without normalization against indicators of human waste Q Zhan, KM Babler, ME Sharkey, A Amirali, CC Beaver, MM Boone, ... Acs Es&T Water 2 (11), 1992-2003, 2022 | 56 | 2022 |
| Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature Z Ordulu, KE Wong, BB Currall, AR Ivanov, S Pereira, S Althari, ... The American Journal of Human Genetics 94 (5), 695-709, 2014 | 51 | 2014 |
| Mechanisms for structural variation in the human genome BB Currall, C Chiangmai, ME Talkowski, CC Morton Current genetic medicine reports 1, 81-90, 2013 | 50 | 2013 |
| ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice O Diaz-Horta, C Abad, L Sennaroglu, J Foster, A DeSmidt, G Bademci, ... Proceedings of the National Academy of Sciences 113 (21), 5993-5998, 2016 | 48 | 2016 |
| Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions T Arbogast, P Razaz, J Ellegood, SU McKinstry, S Erdin, B Currall, ... Human molecular genetics 28 (9), 1474-1486, 2019 | 38 | 2019 |
| Prestin–prestin and prestin–GLUT5 interactions in HEK293T cells X Wu, B Currall, T Yamashita, LL Parker, R Hallworth, J Zuo Developmental neurobiology 67 (4), 483-497, 2007 | 33 | 2007 |
| Studying inner ear protein–protein interactions using FRET and FLIM R Hallworth, B Currall, MG Nichols, X Wu, J Zuo Brain research 1091 (1), 122-131, 2006 | 31 | 2006 |
| Comparison of electronegative filtration to magnetic bead-based concentration and V2G-qPCR to RT-qPCR for quantifying viral SARS-CoV-2 RNA from wastewater KM Babler, A Amirali, ME Sharkey, SL Williams, MM Boone, ... Acs Es&T Water 2 (11), 2004-2013, 2022 | 21 | 2022 |
| TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X‐linked Dystonia‐Parkinsonism J Al Ali, CA Vaine, S Shah, L Campion, A Hakoum, ML Supnet, P Acuña, ... Movement Disorders 36 (1), 206-215, 2021 | 18 | 2021 |
| Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families DM Werling, H Brand, JY An, MR Stone, JT Glessner, L Zhu, RL Collins, ... BioRxiv, 127043, 2017 | 18 | 2017 |
| Loss of LDAH associated with prostate cancer and hearing loss BB Currall, M Chen, RC Sallari, M Cotter, KE Wong, NG Robertson, ... Human molecular genetics 27 (24), 4194-4203, 2018 | 17 | 2018 |
| Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin A Domingo, R Yadav, S Shah, WT Hendriks, S Erdin, D Gao, K O’Keefe, ... The American Journal of Human Genetics 108 (11), 2145-2158, 2021 | 16 | 2021 |
| Tissue-and cell-type-specific molecular and functional signatures of 16p11. 2 reciprocal genomic disorder across mouse brain and human neuronal models DJC Tai, P Razaz, S Erdin, D Gao, J Wang, X Nuttle, CE De Esch, ... The American Journal of Human Genetics 109 (10), 1789-1813, 2022 | 15 | 2022 |
| Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay SLP Schilit, BB Currall, R Yao, C Hanscom, RL Collins, V Pillalamarri, ... European Journal of Human Genetics 24 (11), 1622-1626, 2016 | 13 | 2016 |
