| The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results D Baldridge, J Heeley, M Vineyard, L Manwaring, TL Toler, E Fassi, ... Genetics in Medicine 19 (9), 1040-1048, 2017 | 101 | 2017 |
| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ... Nature communications 9 (1), 4619, 2018 | 96 | 2018 |
| Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors EM Fiala, G Jayakumaran, A Mauguen, JA Kennedy, N Bouvier, Y Kemel, ... Nature cancer 2 (3), 357-365, 2021 | 91 | 2021 |
| Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ... The American Journal of Human Genetics 104 (1), 164-178, 2019 | 70 | 2019 |
| Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers N Shukla, MF Levine, G Gundem, D Domenico, B Spitzer, N Bouvier, ... Nature communications 13 (1), 2485, 2022 | 29 | 2022 |
| 11p15. 5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood EM Fiala, MV Ortiz, JA Kennedy, D Glodzik, MH Fleischut, KA Duffy, ... Cancer 126 (13), 3114-3121, 2020 | 27 | 2020 |
| De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature S Nambot, L Faivre, G Mirzaa, J Thevenon, AL Bruel, AL Mosca-Boidron, ... European Journal of Human Genetics 28 (6), 770-782, 2020 | 25 | 2020 |
| Risk-modeling of dog osteosarcoma genome scans shows individuals with Mendelian-level polygenic risk are common I Zapata, LE Moraes, EM Fiala, S Zaldivar-Lopez, CG Couto, JL Rowell, ... BMC genomics 20, 1-14, 2019 | 19 | 2019 |
| CEDNIK: phenotypic and molecular characterization of an additional patient and review of the literature T Hsu, CC Coughlin, KG Monaghan, E Fiala, RC McKinstry, ... Child Neurology Open 4, 2329048X17733214, 2017 | 19 | 2017 |
| Impaired proteolysis of noncanonical RAS proteins drives clonal hematopoietic transformation S Chen, RS Vedula, A Cuevas-Navarro, B Lu, SJ Hogg, E Wang, ... Cancer discovery 12 (10), 2434-2453, 2022 | 15 | 2022 |
| Multiple primary cancers in patients undergoing tumor-normal sequencing define novel associations YL Liu, KA Cadoo, S Mukherjee, A Khurram, K Tkachuk, Y Kemel, A Maio, ... Cancer Epidemiology, Biomarkers & Prevention 31 (2), 362-371, 2022 | 12 | 2022 |
| Comparative genomics of canine hemoglobin genes reveals primacy of beta subunit delta in adult carnivores S Zaldívar-López, JL Rowell, EM Fiala, I Zapata, CG Couto, CE Alvarez BMC genomics 18, 1-13, 2017 | 11 | 2017 |
| Reticular dysgenesis caused by an intronic pathogenic variant in AK2 S Ichikawa, S Prockop, C Cunningham-Rundles, T Sifers, BR Conner, ... Molecular Case Studies 6 (3), a005017, 2020 | 3 | 2020 |
| Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language LS Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, H Venselaar, ... Nature communications 10 (1), 883, 2019 | 3 | 2019 |
| Prevalence and clinical characterization of MMR-D/MSI extra-colonic cancers among germline PMS2 mutation carriers. A Latham, EE Salo-Mullen, A Catchings, M Ranganathan, E Fiala, ... Journal of Clinical Oncology 38 (15_suppl), 1527-1527, 2020 | 1 | 2020 |
| Prospective agnostic germline testing in pediatric cancer patients. E Fiala, J Kennedy, Y Kemel, A Mauguen, D Mandelker, A Zehir, O Birsoy, ... Journal of Clinical Oncology 38 (15_suppl), 1589-1589, 2020 | 1 | 2020 |
| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018) LS Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, H Venselaar, ... Nature Communications 10 (1), 883-, 2019 | 1 | 2019 |
| Non-RB1 Germline Cancer Predisposing Variants found in Retinoblastoma Patients AMR Barreto, MF Walsh, MA Robbins, A Mauguen, EM Fiala, C Olcese, ... Genetics in Medicine Open, 101836, 2024 | | 2024 |
| AD e Novo Supernumerary Ring Chromosome 1 Causes B-Cell Acute Lymphoblastic Leukemia in Monozygotic Twins Due to Independent and Partially Convergent Evolutionary Trajectories J Gutiérrez-Abril, G Gundem, E Fiala, K Liosis, N Farnoud, ... Blood 142, 4352, 2023 | | 2023 |
| POT1 germline pathogenic variants and evolving understanding of tumor spectrum: Evidence for lung cancer predisposition. MF Walsh, S Mukherjee, M Gao, E Fiala, A Mauguen, Y Kemel, ... Journal of Clinical Oncology 41 (16_suppl), 10511-10511, 2023 | | 2023 |
