| An interferon-related gene signature for DNA damage resistance is a predictive marker for chemotherapy and radiation for breast cancer RR Weichselbaum, H Ishwaran, T Yoon, DSA Nuyten, SW Baker, ... Proceedings of the National Academy of Sciences 105 (47), 18490-18495, 2008 | 605 | 2008 |
| Automated clinical exome reanalysis reveals novel diagnoses SW Baker, JR Murrell, AI Nesbitt, KB Pechter, J Balciuniene, X Zhao, Z Yu, ... The Journal of Molecular Diagnostics 21 (1), 38-48, 2019 | 84 | 2019 |
| Host genetic variation influences gene expression response to rhinovirus infection M Çalışkan, SW Baker, Y Gilad, C Ober PLoS genetics 11 (4), e1005111, 2015 | 77 | 2015 |
| Embryonic stem cells induce pluripotency in somatic cell fusion through biphasic reprogramming KM Foshay, TJ Looney, S Chari, FF Mao, JH Lee, L Zhang, CJ Fernandes, ... Molecular cell 46 (2), 159-170, 2012 | 63 | 2012 |
| Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2 ME Vajravelu, J Chai, B Krock, S Baker, D Langdon, C Alter, DD De León The Journal of Clinical Endocrinology & Metabolism 103 (3), 1042-1047, 2018 | 48 | 2018 |
| Genetic And Epigenetic Fine Mapping Of Complex Trait Associated Loci In The Human Liver M Çalışkan, E Manduchi, HS Rao, JA Segert, MH Beltrame, M Trizzino, ... The American Journal of Human Genetics, 2019 | 46 | 2019 |
| De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder LS Blok, T Kleefstra, H Venselaar, S Maas, HY Kroes, AMA Lachmeijer, ... The American Journal of Human Genetics 105 (2), 403-412, 2019 | 43 | 2019 |
| Clinical Exome Reanalysis: Current Practice and Beyond J Ji, ML Leung, S Baker, JL Deignan, A Santani Molecular Diagnosis & Therapy 25 (5), 529-536, 2021 | 36 | 2021 |
| MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype T Smol, F Petit, A Piton, B Keren, D Sanlaville, A Afenjar, S Baker, ... neurogenetics 19 (2), 93-103, 2018 | 32 | 2018 |
| Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital AL Ritter, C McDougall, C Skraban, L Medne, EC Bedoukian, SB Asher, ... American Journal of Medical Genetics Part A 176 (9), 1890-1896, 2018 | 29 | 2018 |
| Improved molecular detection of mosaicism in Beckwith-Wiedemann syndrome SW Baker, KA Duffy, J Richards-Yutz, MA Deardorff, JM Kalish, A Ganguly Journal of Medical Genetics 58 (3), 178-184, 2021 | 27 | 2021 |
| Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach C Wu, B Devkota, P Evans, X Zhao, SW Baker, R Niazi, K Cao, ... European Journal of Human Genetics 27 (4), 612, 2019 | 24 | 2019 |
| Systematic mapping of occluded genes by cell fusion reveals prevalence and stability of cis-mediated silencing in somatic cells TJ Looney, L Zhang, CH Chen, JH Lee, S Chari, FF Mao, M Pelizzola, ... Genome research 24 (2), 267-280, 2014 | 13 | 2014 |
| Evidence for a critical role of gene occlusion in cell fate restriction J Gaetz, KL Clift, CJ Fernandes, FF Mao, JH Lee, L Zhang, SW Baker, ... Cell research 22 (5), 848-858, 2012 | 13 | 2012 |
| Prenatal molecular testing and diagnosis of Beckwith‐Wiedemann syndrome SW Baker, E Ryan, JM Kalish, A Ganguly Prenatal diagnosis 41 (7), 817-822, 2021 | 10 | 2021 |
| Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? JR Murrell, AMI Nesbitt, SW Baker, KB Pechter, J Balciuniene, X Zhao, ... The Journal of Molecular Diagnostics 24 (3), 274-286, 2022 | 8 | 2022 |
| A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute ML Leung, J Ji, S Baker, JG Buchan, TA Sivakumaran, BL Krock, ... The Journal of Molecular Diagnostics 24 (2), 177-188, 2022 | 5 | 2022 |
| Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci EJ Bhoj, F Rajabi, SW Baker, A Santani, WH Tan European journal of medical genetics 63 (6), 103903, 2020 | 4 | 2020 |
| Dominant-negative variants in CBX1 cause a neurodevelopmental disorder Y Kuroda, A Iwata-Otsubo, KR Dias, SEL Temple, K Nagao, L De Hayr, ... Genetics in Medicine, 100861, 2023 | 2 | 2023 |
| Capacity to erase gene occlusion is a defining feature distinguishing naive from primed pluripotency KM Foshay, JH Lee, L Zhang, CJ Fernandes, B Wu, J Gaetz, SW Baker, ... bioRxiv, 2021 | | 2021 |
