| Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue KE Miller, DC Koboldt, KM Schieffer, TA Bedrosian, E Crist, A Sheline, ... Neurology: Genetics 6 (4), e460, 2020 | 28 | 2020 |
| YAP1-FAM118B fusion defines a rare subset of childhood and young adulthood meningiomas KM Schieffer, V Agarwal, S LaHaye, KE Miller, DC Koboldt, T Lichtenberg, ... The American Journal of Surgical Pathology 45 (3), 329-340, 2021 | 17 | 2021 |
| Gastroblastoma with a novel EWSR1‐CTBP1 fusion presenting in adolescence SC Koo, S LaHaye, BP Kovari, KM Schieffer, MA Ranalli, JH Aldrink, ... Genes, Chromosomes and Cancer 60 (9), 640-646, 2021 | 11 | 2021 |
| Expanding the clinical history associated with syndromic Klippel-Feil: a unique case of comorbidity with medulloblastoma KM Schieffer, E Varga, KE Miller, V Agarwal, DC Koboldt, P Brennan, ... European journal of medical genetics 62 (8), 103701, 2019 | 11 | 2019 |
| De novo primary central nervous system pure erythroid leukemia/sarcoma with t (1; 16)(p31; q24) NFIA/CBFA2T3 translocation H Liu, TL Guinipero, KM Schieffer, C Carter, S Colace, JR Leonard, ... Haematologica 105 (4), e194, 2020 | 10 | 2020 |
| Cryptic multicolored lizards in the Polychrus marmoratus Group (Squamata: Sauria: Polychrotidae) and the status of Leiolepis auduboni Hallowell JC Murphy, RM Lehtinen, SP Charles, D Wasserman, T Anton, ... | 9 | 2017 |
| Samovar: single-sample mosaic single-nucleotide variant calling with linked reads CA Darby, JR Fitch, PJ Brennan, BJ Kelly, N Bir, V Magrini, J Leonard, ... Iscience 18, 1-10, 2019 | 8 | 2019 |
| Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma KM Schieffer, AZ Feldman, EA Kautto, S McGrath, AR Miller, ... Acta neuropathologica communications 9, 1-11, 2021 | 6 | 2021 |
| Intricacies in arrangement of SNP haplotypes suggest “Great Admixture” that created modern humans R Dutta, J Mainsah, Y Yatskiv, S Chakrabortty, P Brennan, B Khuder, ... BMC genomics 18, 1-13, 2017 | 5 | 2017 |
| Congenital heart defects and dysmorphic facial features in patients suspicious of 22q11. 2 deletion syndrome in Southern Brazil BL Diniz, AS Santos, AB Glaeser, BB Guaraná, CF Lorea, JA Josahkian, ... Journal of Pediatric Genetics 9 (04), 227-234, 2020 | 2 | 2020 |
| Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree SE Hickey, DC Koboldt, TM Mosher, P Brennan, BA Schmalz, E Crist, ... Molecular Case Studies 5 (6), a004176, 2019 | 2 | 2019 |
| Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review FW De Faria, KM Schieffer, CR Pierson, DR Boue, S LaHaye, KE Miller, ... Genes, Chromosomes and Cancer 62 (1), 39-46, 2023 | | 2023 |
| Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease S Ramadesikan, S Hickey, E De Los Reyes, AD Patel, SJ Franklin, ... Molecular Case Studies 8 (2), a006165, 2022 | | 2022 |
| Robust diagnostic yield and candidate gene discovery through paired exome analysis in vascular malformation and overgrowth C Cottrell, B Setty, A Lillis, I Khansa, G Pearson, E Fernandez-Faith, ... Molecular Genetics and Metabolism 132, S232, 2021 | | 2021 |
| Outcomes of in-house rapid genome sequencing at a Children’s Hospital B Chaudhari, C Cottrell, V Magrini, P White, A Antoniou, S Choi, B Kelly, ... Molecular Genetics and Metabolism 132, S165-S166, 2021 | | 2021 |
| Determinants of turnaround time in a rapid genome sequencing program B Chaudhari, J Pitts, S Ravagnani, K Leraas, P White, V Magrini, ... Molecular Genetics and Metabolism, S354-S356, 2021 | | 2021 |
| EPEN-17. FAVORABLE OUTCOME TO INTENSIVE CHEMOTHERAPY WITHOUT IRRADIATION IN INFANTILE METASTATIC EPENDYMOMA WITH A NOVEL MOLECULAR PROFILE: A CASE REPORT FW de Faria, KM Schieffer, C Pierson, D Boué, N Zumberge, J Rusin, ... Neuro-Oncology 22 (Supplement_3), iii310-iii311, 2020 | | 2020 |
| Comprehensive Genomic Profiling in a Pediatric Cohort: Novel Co-Occurrence of Cancer and Constitutional Disease K Schieffer, K Miller, E Varga, V Magrini, D Koboldt, K Leraas, ... JOURNAL OF MOLECULAR DIAGNOSTICS 22 (5), S78-S78, 2020 | | 2020 |
| Comprehensive Genomic Characterization of Congenital and Infantile Cancers Reveals High Yield of Medically Meaningful Findings C Cottrell, K Schieffer, S Lahaye, V Magrini, E Varga, T Lichtenberg, ... JOURNAL OF MOLECULAR DIAGNOSTICS 22 (5), S53-S54, 2020 | | 2020 |
| Implementation of a Patient-Centric Protocol for the Comprehensive Genomic Profiling of Pediatric Tumors and Hematologic Disease CE Cottrell, V Magrini, K Schleifer, E Varga, S Vear, T Lichtenberg, ... JOURNAL OF MOLECULAR DIAGNOSTICS 21 (6), 1198-1198, 2019 | | 2019 |
