Следене
Elise Fiala
Elise Fiala
Няма данни за членство
Потвърден имейл адрес: wustl.edu
Заглавие
Позовавания
Позовавания
Година
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
1022017
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
972018
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
932021
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
712019
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
292022
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
272020
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
262020
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
202019
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
202017
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
162022
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
152022
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
112017
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
32020
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
32019
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
12020
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
12020
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
12019
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 2, 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
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