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ANGSHUMOY ROY

TitleAssociate Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pathology & Immunology
Address1102 BATES
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    Other Positions
    TitleAssociate Professor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Pediatrics
    DivisionPediatrics-Oncology


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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Furtado LV, Kim AS, Moyer AM, Moncur JT, Xian RR, Roy A, Santani AB, Akkari Y, Voelkerding KV, Souers RJ, Halley J, Palomaki GE. Genomic Reporting Practices Across 5 Molecular Disciplines: A Study From the College of American Pathologists. Arch Pathol Lab Med. 2024 Nov 22. PMID: 39576195.
      Citations:    Fields:    
    2. Desrosiers-Battu LR, Wang T, Reuther J, Miles G, Dai H, Jo E, Russell H, Raesz-Martinez R, Recinos A, Gutierrez S, Thomas A, Berenson E, Corredor J, Nugent K, Wyatt Castillo R, Althaus R, Littlejohn R, Gessay S, Tomlinson G, Gill J, Bernini JC, Vallance K, Griffin T, Scollon S, Lin FY, Eng C, Kulkarni S, Hilsenbeck SG, Roy A, McGuire AL, Parsons DW, Plon SE. Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study. JCO Precis Oncol. 2024 Sep; 8:e2400187. PMID: 39259914; PMCID: PMC11392521.
      Citations:    Fields:    Translation:HumansCells
    3. Kumar RD, Vossaert L, Bi W, Owen N, Rau RE, Helber HL, Sasa G, Reuther J, Roy A, Fisher KE. Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnoses. Cancer Genet. 2024 Nov; 288-289:5-9. PMID: 39178500.
      Citations:    Fields:    
    4. Tsuchiya KD, Funke B, Hegde M, Santani A, Souers RJ, Szelinger S, Halley J, Zhao Q, Mot N, Roy A, Smith VL, Zhang BM, Voelkerding K, Moyer AM, Funke B, Hegde M, Souers RJ, Szelinger S, Halley J, Zhao Q, Mot N. Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants. Arch Pathol Lab Med. 2024 Jul 01; 148(7):775-783. PMID: 37852169.
      Citations:    Fields:    
    5. Gastier-Foster JM, Lutwama F, Mbabazi O, Mlenga S, Ulaya K, Namazzi R, Hollingsworth EF, Lopez-Terrada D, Fisher KE, Roy A, Allen CE, Poplack DG, Mzikamanda R, Ozuah N, Wasswa P. Rapid gene fusion testing using the NanoString nCounter platform to improve pediatric leukemia diagnoses in Sub-Saharan Africa. Front Oncol. 2024; 14:1426638. PMID: 38939333; PMCID: PMC11208450.
      Citations:    
    6. Lin FY, Stuckert A, Tat C, White M, Ruggieri L, Zhang H, Mehta B, Lapteva N, Mei Z, Major A, Thakkar S, Shum T, Parikh K, Wu MF, Lindsay HB, Scherer L, Shekar M, Baxter P, Wang T, Grilley B, Moeller K, Hicks J, Roy A, Anastas J, Malbari F, Aldave G, Chintagumpala M, Blaney S, Parsons DW, Brenner MK, Heslop HE, Rooney CM, Omer B. Phase I Trial of GD2.CART Cells Augmented With Constitutive Interleukin-7 Receptor for Treatment of High-Grade Pediatric CNS Tumors. J Clin Oncol. 2024 Aug 10; 42(23):2769-2779. PMID: 38771986; PMCID: PMC11305939.
      Citations: 7     Fields:    Translation:HumansCTClinical Trials
    7. Hirschi OR, Felker SA, Rednam SP, Vallance KL, Parsons DW, Roy A, Cooper GM, Plon SE. Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity. Genet Med Open. 2024; 2:101850. PMID: 39669609; PMCID: PMC11613871.
      Citations:    
    8. Eldaya RW, Fagan RJ, Dagher SA, Roy A, Dahyia S, Fuller GN, Wintermark M, Parsons MS, Huisman TAGM. Imaging Features of Primary Intracranial Sarcoma with DICER1 Mutation: A Multicenter Case Series. AJNR Am J Neuroradiol. 2024 05 09; 45(5):626-631. PMID: 38637027; PMCID: PMC11288540.
      Citations:    Fields:    Translation:Humans
    9. Bridge JA, Halling KC, Moncur JT, Souers RJ, Hameed MR, Fernandes H, Roy A, Surrey L, Tafe LJ, Vasalos P, Lopez-Terrada DH, Halling KC, Moncur JT, Souers RJ, Hameed MR, Fernandes H, Roy A, Surrey L, Tafe LJ, Lopez-Terrada DH. RNA Sequencing for Solid Tumor Fusion Gene Detection: Proficiency Testing Practice and Performance Comparison. Arch Pathol Lab Med. 2024 May 01; 148(5):538-544. PMID: 37535666.
      Citations:    Fields:    
    10. Hirschi OR, Felker SA, Rednam SP, Vallance KL, Parsons DW, Roy A, Cooper GM, Plon SE. Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity. medRxiv. 2023 Nov 01. PMID: 37961416; PMCID: PMC10635218.
      Citations:    
    11. Naik U, Shah M, Sandberg DI, Samant R, Roy A, Bhattacharjee MB. Histopathologic "Evolution" in Pediatric Primary Intracranial High-Grade Sarcoma - a Key that Unlocked the Correct Diagnosis. Ann Clin Lab Sci. 2023 Jul; 53(4):661-666. PMID: 37625831.
      Citations:    Fields:    Translation:Humans
    12. Mangum R, Reuther J, Sen Baksi K, Gandhi I, Zabriskie RC, Recinos A, Raesz-Martinez R, Lin FY, Potter SL, Sher AC, Kralik SF, Mohila CA, Chintagumpala MM, Muzny D, Hu J, Gibbs RA, Fisher KE, Bernini JC, Gill J, Griffin TC, Tomlinson GE, Vallance KL, Plon SE, Roy A, Parsons DW. Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study. Pediatr Hematol Oncol. 2023; 40(8):719-738. PMID: 37366551; PMCID: PMC10592361.
      Citations:    Fields:    Translation:Humans
    13. Chen Wongworawat Y, Eskandari G, Gaikwad A, Marcogliese AN, Ferguson LS, Brackett J, Punia JN, Elghetany MT, Kulkarni R, Rao PH, Ringrose J, Lopez-Terrada DH, Roy A, Curry CV, Fisher KE. Frequent detection of CBFA2T3::GLIS2 fusion and RAM-phenotype in pediatric non-Down syndrome acute megakaryoblastic leukemia: a possible novel relationship with aberrant cytoplasmic CD3 expression. Leuk Lymphoma. 2023 02; 64(2):462-467. PMID: 36346368.
      Citations: 1     Fields:    Translation:Humans
    14. Woodfield SE, Mistretta BJ, Patel RH, Ibarra AM, Fisher KE, Sarabia SF, Gandhi I, Reuther J, Starosolski Z, Badachhape A, Epps J, Zorman B, Shah AP, Larson SR, Srivastava RK, Shi Y, Espinoza AF, Govindu SR, Whitlock RS, Holloway K, Roy A, Sumazin P, Ghaghada KB, Lopez-Terrada D, Gunaratne PH, Vasudevan SA. HepT1-derived murine models of high-risk hepatoblastoma display vascular invasion, metastasis, and circulating tumor cells. Biol Open. 2022 09 15; 11(9). PMID: 35451474; PMCID: PMC9493725.
      Citations:    Fields:    
    15. Scollon S, Eldomery MK, Reuther J, Lin FY, Potter SL, Desrosiers L, McClain KL, Smith V, Su JM, Venkatramani R, Hu J, Korchina V, Zarrin-Khameh N, Gibbs RA, Muzny DM, Eng C, Roy A, Parsons DW, Plon SE. Clinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 11; 69(11):e29859. PMID: 35713195; PMCID: PMC9529793.
      Citations:    Fields:    
    16. Sumazin P, Peters TL, Sarabia SF, Kim HR, Urbicain M, Hollingsworth EF, Alvarez KR, Perez CR, Najaf Panah MJ, Epps JL, Scorsone K, Zorman B, Katzenstein H, O'Neill AF, Meyers R, Tiao G, Geller J, Ranganathan S, Rangaswami AA, Woodfield SE, Goss JA, Vasudevan SA, Heczey A, Roy A, Fisher KE, Patel KR, Finegold MJ, Pozza A, Alaggio R, L?pez-Terrada DH. Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults. J Hepatol. 2022 10; 77(4):1026-1037. PMID: 35577029; PMCID: PMC9524481.
      Citations:    Fields:    
    17. Whittle SB, Fetzko S, Roy A, Venkatramani R. Soft Tissue and Visceral Organ Sarcomas With BCOR Alterations. J Pediatr Hematol Oncol. 2022 07 01; 44(5):195-200. PMID: 35537005; PMCID: PMC10026688.
      Citations:    Fields:    Translation:Humans
    18. Chandramohan R, Reuther J, Gandhi I, Voicu H, Alvarez KR, Plon SE, Lopez-Terrada DH, Fisher KE, Parsons DW, Roy A. A Validation Framework for Somatic Copy Number Detection in Targeted Sequencing Panels. J Mol Diagn. 2022 07; 24(7):760-774. PMID: 35487348; PMCID: PMC9302205.
      Citations:    Fields:    Translation:Humans
    19. Saliba J, Church AJ, Rao S, Danos A, Furtado LV, Laetsch T, Zhang L, Nardi V, Lin WH, Ritter DI, Madhavan S, Li MM, Griffith OL, Griffith M, Raca G, Roy A. Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions. Cancer Genet. 2022 06; 264-265:50-59. PMID: 35366592; PMCID: PMC9252326.
      Citations:    Fields:    Translation:Humans
    20. Garcia A, Desrosiers L, Scollon S, Gruner S, Reuther J, Gandhi I, Patil N, Fuller MY, Dai H, Muzny D, Gibbs RA, Bercaw-Pratt JL, Rao SL, Rainusso N, Fisher KE, Lin FY, Plon SE, Parsons DW, Roy A. Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome. Cancer Genet. 2022 04; 262-263:53-56. PMID: 35026696; PMCID: PMC8920771.
      Citations:    Fields:    Translation:Humans
    21. Wagner AH, Akkari Y, Li M, Roy A, Tsuchiya K, Raca G. Correction to: Recommendations for future extensions to the HGNC gene fusion nomenclature. Leukemia. 2022 Jan; 36(1):299-300. PMID: 34907337; PMCID: PMC9119254.
      Citations:    Fields:    
    22. Wagner AH, Akkari Y, Li M, Roy A, Tsuchiya K, Raca G. Recommendations for future extensions to the HGNC gene fusion nomenclature. Leukemia. 2021 12; 35(12):3611-3612. PMID: 34764425; PMCID: PMC8632684.
      Citations:    Fields:    Translation:Humans
    23. Carter-Febres M, Schneller N, Fair D, Solomon D, Perry A, Roy A, Linscott L, Alashari M, Kestle JR, Bruggers CS. Adjuvant Maintenance Larotrectinib Therapy in 2 Children With NTRK Fusion-positive High-grade Cancers. J Pediatr Hematol Oncol. 2021 Oct 01; 43(7):e987-e990. PMID: 33093355.
      Citations: 1     Fields:    Translation:Humans
    24. Kelly GA, Venkatramani R, Quintanilla NM, Chelius DC, Roy A, Mahajan P. Secretory Carcinoma of the Salivary Gland: A Rarity in Children. J Pediatr Hematol Oncol. 2022 05 01; 44(4):167-172. PMID: 34486543.
      Citations:    Fields:    Translation:Humans
    25. Mangum R, Reuther J, Bertrand KC, Chandramohan R, Kukreja MK, Paulino AC, Muzny D, Hu J, Gibbs RA, Curry DJ, Malbari F, Chintagumpala MM, Adesina AM, Fisher KE, Mack SC, Plon SE, Roy A, Parsons DW, Lin FY. Durable Response to Larotrectinib in a Child With Histologic Diagnosis of Recurrent Disseminated Ependymoma Discovered to Harbor an NTRK2 Fusion: The Impact of Integrated Genomic Profiling. JCO Precis Oncol. 2021; 5. PMID: 34651095; PMCID: PMC8509924.
      Citations:    Fields:    Translation:Humans
    26. Ting MA, Reuther J, Chandramohan R, Voicu H, Gandhi I, Liu M, Cortes-Santiago N, Foster JH, Hicks J, Nuchtern J, Scollon S, Plon SE, Chintagumpala M, Rainusso N, Roy A, Parsons DW. Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood. J Pathol. 2021 09; 255(1):52-61. PMID: 34086347.
      Citations:    Fields:    Translation:HumansAnimals
    27. Chandramohan R, Kakkar N, Roy A, Parsons DW. reconCNV: interactive visualization of copy number data from high-throughput sequencing. Bioinformatics. 2021 05 23; 37(8):1164-1167. PMID: 32821910.
      Citations: 1     Fields:    
    28. Potter SL, Reuther J, Chandramohan R, Gandhi I, Hollingsworth F, Sayeed H, Voicu H, Kakkar N, Baksi KS, Sarabia SF, Lopez ME, Chelius DC, Athanassaki ID, Mahajan P, Venkatramani R, Quintanilla NM, Lopez-Terrada DH, Roy A, Parsons DW. Integrated DNA and RNA sequencing reveals targetable alterations in metastatic pediatric papillary thyroid carcinoma. Pediatr Blood Cancer. 2021 01; 68(1):e28741. PMID: 33009870.
      Citations: 4     Fields:    Translation:Humans
    29. Chang RJ, Reuther J, Gandhi I, Roy A, Jain S, Masand RP. Sex Cord Tumor With Annular Tubules-Like Histologic Pattern in Adult Granulosa Cell Tumor: Case Report of a Hitherto Unreported Morphologic Variant. Int J Surg Pathol. 2021 Jun; 29(4):433-437. PMID: 32856501.
      Citations:    Fields:    Translation:Humans
    30. Kim HR, Chouvarine P, Rutishauser D, De Vargas Roditi L, Szalai B, Wagner U, Oehl K, Saba K, Pati A, Saez-Rodriguez J, Roy A, Parsons DW, Wild PJ, Sumazin P, Manica M, Mathis R, Mart?nez MR. Inferring clonal composition from multiple tumor biopsies. NPJ Syst Biol Appl. 2020 08 25; 6(1):27. PMID: 32843649; PMCID: PMC7447821.
      Citations: 2     Fields:    Translation:Humans
    31. Amra N, Zarate LV, Punia JN, Mahajan P, Stevens AM, Roy A, Curry CV, Cortes-Santiago N, Fisher KE. Mediastinal Germ Cell Tumor and Acute Megakaryoblastic Leukemia With Co-occurring KRAS Mutation and Complex Cytogenetics. Pediatr Dev Pathol. 2020 Nov-Dec; 23(6):461-466. PMID: 32815783.
      Citations: 2     Fields:    Translation:Humans
    32. Dupuis M, Shen Y, Curcio C, Meis JM, Wang WL, Amini B, Rhines L, Reuther J, Roy A, Fisher KE, Conley AP, Andrew Livingston J. Successful treatment of lipofibromatosis-like neural tumor of the lumbar spine with an NTRK-fusion inhibitor. Clin Sarcoma Res. 2020; 10:14. PMID: 32782782; PMCID: PMC7412810.
      Citations: 4     
    33. Han H, Bertrand KC, Patel KR, Fisher KE, Roy A, Muscal JA, Venkatramani R. BCOR-CCNB3 fusion-positive clear cell sarcoma of the kidney. Pediatr Blood Cancer. 2020 04; 67(4):e28151. PMID: 31876361.
      Citations:    Fields:    Translation:Humans
    34. Zhou T, Bloomquist MS, Ferguson LS, Reuther J, Marcogliese AN, Elghetany MT, Roy A, Rao PH, Lopez-Terrada DH, Redell MS, Punia JN, Curry CV, Fisher KE. Pediatric myeloid sarcoma: a single institution clinicopathologic and molecular analysis. Pediatr Hematol Oncol. 2020 Feb; 37(1):76-89. PMID: 31682773.
      Citations: 9     Fields:    Translation:Humans
    35. Lindsay H, Scollon S, Reuther J, Voicu H, Rednam SP, Lin FY, Fisher KE, Chintagumpala M, Adesina AM, Parsons DW, Plon SE, Roy A. Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency. Cold Spring Harb Mol Case Stud. 2019 10; 5(5). PMID: 31624068; PMCID: PMC6824253.
      Citations: 8     Fields:    Translation:HumansCells
    36. Hassan M, Butler E, Wilson R, Roy A, Zheng Y, Liem P, Rakheja D, Pavlick D, Young LL, Rosenzweig M, Erlich R, Ali SM, Leavey PJ, Parsons DW, Skapek SX, Laetsch TW. Novel PDGFRB rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinib. Cold Spring Harb Mol Case Stud. 2019 10; 5(5). PMID: 31645346; PMCID: PMC6824247.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    37. Whittle SB, Hicks MJ, Roy A, Vasudevan SA, Reddy K, Venkatramani R. Congenital spindle cell rhabdomyosarcoma. Pediatr Blood Cancer. 2019 11; 66(11):e27935. PMID: 31339226.
      Citations: 4     Fields:    Translation:Humans
    38. Hashmi SK, Punia JN, Marcogliese AN, Gaikwad AS, Fisher KE, Roy A, Rao P, Lopez-Terrada DH, Ringrose J, Loh ML, Niemeyer CM, Rau RE. Sustained remission with azacitidine monotherapy and an aberrant precursor B-lymphoblast population in juvenile myelomonocytic leukemia. Pediatr Blood Cancer. 2019 10; 66(10):e27905. PMID: 31250550; PMCID: PMC7328527.
      Citations: 3     Fields:    Translation:HumansCells
    39. Haines K, Sarabia SF, Alvarez KR, Tomlinson G, Vasudevan SA, Heczey AA, Roy A, Finegold MJ, Parsons DW, Plon SE, L?pez-Terrada D. Characterization of pediatric hepatocellular carcinoma reveals genomic heterogeneity and diverse signaling pathway activation. Pediatr Blood Cancer. 2019 07; 66(7):e27745. PMID: 30977242.
      Citations: 10     Fields:    Translation:HumansCellsCTClinical Trials
    40. Danos AM, Ritter DI, Wagner AH, Krysiak K, Sonkin D, Micheel C, McCoy M, Rao S, Raca G, Boca SM, Roy A, Barnell EK, McMichael JF, Kiwala S, Coffman AC, Kujan L, Kulkarni S, Griffith M, Madhavan S, Griffith OL, Clinical Genome Resource Somatic Working Group and Clinical Interpretation of Variants in Cancer tea. Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards. Hum Mutat. 2018 11; 39(11):1721-1732. PMID: 30311370; PMCID: PMC6282863.
      Citations: 8     Fields:    Translation:Humans
    41. David MP, Venkatramani R, Lopez-Terrada DH, Roy A, Patil N, Fisher KE. Multimodal molecular analysis of an atypical small cell carcinoma of the ovary, hypercalcemic type. Cold Spring Harb Mol Case Stud. 2018 10; 4(5). PMID: 30275002; PMCID: PMC6169825.
      Citations: 3     Fields:    Translation:Humans
    42. Charville GW, Wang WL, Ingram DR, Roy A, Thomas D, Patel RM, Hornick JL, van de Rijn M, Lazar AJ. PAX7 expression in sarcomas bearing the EWSR1-NFATC2 translocation. Mod Pathol. 2019 01; 32(1):154-156. PMID: 29985454.
      Citations: 5     Fields:    Translation:Humans
    43. Laetsch TW, Roy A, Xu L, Black JO, Coffin CM, Chi YY, Tian J, Spunt SL, Hawkins DS, Bridge JA, Parsons DW, Skapek SX. Undifferentiated Sarcomas in Children Harbor Clinically Relevant Oncogenic Fusions and Gene Copy-Number Alterations: A Report from the Children's Oncology Group. Clin Cancer Res. 2018 08 15; 24(16):3888-3897. PMID: 29691299; PMCID: PMC6335968.
      Citations: 6     Fields:    Translation:HumansCells
    44. Madhavan S, Ritter D, Micheel C, Rao S, Roy A, Sonkin D, Mccoy M, Griffith M, Griffith OL, Mcgarvey P, Kulkarni S. ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research. Pac Symp Biocomput. 2018; 23:247-258. PMID: 29218886; PMCID: PMC5728662.
      Citations: 14     Fields:    Translation:Humans
    45. Patel NR, Chrisinger JSA, Demicco EG, Sarabia SF, Reuther J, Kumar E, Oliveira AM, Billings SD, Roy A, Lazar AJ, Lopez-Terrada DH, Wang WL, Bov?e JVMG. USP6 activation in nodular fasciitis by promoter-swapping gene fusions. Mod Pathol. 2017 11; 30(11):1577-1588. PMID: 28752842.
      Citations: 24     Fields:    Translation:HumansCells
    46. Charville GW, Wang WL, Ingram DR, Roy A, Thomas D, Patel RM, Hornick JL, van de Rijn M, Lazar AJ. EWSR1 fusion proteins mediate PAX7 expression in Ewing sarcoma. Mod Pathol. 2017 09; 30(9):1312-1320. PMID: 28643791.
      Citations: 22     Fields:    Translation:HumansCells
    47. Ballester LY, Cantu MD, Lim KPH, Sarabia SF, Ferguson LS, Renee Webb C, Allen CE, McClain KL, Mohila CA, Punia JN, Roy A, John Hicks M, Fisher KE, L?pez-Terrada DH. The use of BRAF V600E mutation-specific immunohistochemistry in pediatric Langerhans cell histiocytosis. Hematol Oncol. 2018 Feb; 36(1):307-315. PMID: 28219109; PMCID: PMC6886693.
      Citations: 9     Fields:    Translation:Humans
    48. Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S, ClinGen Somatic Cancer Working Group. Somatic cancer variant curation and harmonization through consensus minimum variant level data. Genome Med. 2016 11 04; 8(1):117. PMID: 27814769; PMCID: PMC5095986.
      Citations: 29     Fields:    Translation:Humans
    49. Potter SL, Venkatramani R, Wenderfer S, Graham BH, Vasudevan SA, Sher A, Wu H, Wheeler DA, Yang Y, Eng CM, Gibbs RA, Roy A, Plon SE, Parsons DW. Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. Pediatr Blood Cancer. 2017 05; 64(5). PMID: 27748010; PMCID: PMC5469213.
      Citations: 1     Fields:    Translation:Humans
    50. Chakraborty R, Burke TM, Hampton OA, Zinn DJ, Lim KP, Abhyankar H, Scull B, Kumar V, Kakkar N, Wheeler DA, Roy A, Poulikakos PI, Merad M, McClain KL, Parsons DW, Allen CE. Alternative genetic mechanisms of BRAF activation in Langerhans cell histiocytosis. Blood. 2016 11 24; 128(21):2533-2537. PMID: 27729324; PMCID: PMC5123197.
      Citations: 46     Fields:    Translation:HumansCells
    51. Lin FY, Bergstrom K, Person R, Bavle A, Ballester LY, Scollon S, Raesz-Martinez R, Jea A, Birchansky S, Wheeler DA, Berg SL, Chintagumpala MM, Adesina AM, Eng C, Roy A, Plon SE, Parsons DW. Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001057. PMID: 27626068; PMCID: PMC5002928.
      Citations: 8     Fields:    
    52. Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, Ramamurthy U, McGuire AL, Hilsenbeck SG, Reid JG, Muzny DM, Wheeler DA, Berg SL, Chintagumpala MM, Eng CM, Gibbs RA, Plon SE, L?pez-Terrada DH. Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA Oncol. 2016 May 01; 2(5):616-624. PMID: 26822237; PMCID: PMC5471125.
      Citations: 169     Fields:    
    53. Roy A, Masand RP, Wiszniewska J. Myxoid Dermatofibrosarcoma Protuberans of the Vulva: Case Report of a Rare Variant in an Unusual Location, With Unusual Morphologic and Immunohistochemical Features. Am J Dermatopathol. 2016 Mar; 38(3):226-30. PMID: 26355764.
      Citations: 3     Fields:    Translation:Humans
    54. Roy A, Kumar V, Zorman B, Fang E, Haines KM, Doddapaneni H, Hampton OA, White S, Bavle AA, Patel NR, Eldin KW, John Hicks M, Rakheja D, Leavey PJ, Skapek SX, Amatruda JF, Nuchtern JG, Chintagumpala MM, Wheeler DA, Plon SE, Sumazin P, Parsons DW. Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun. 2015 Nov 17; 6:8891. PMID: 26573325; PMCID: PMC4660214.
      Citations: 41     Fields:    Translation:HumansCells
    55. Schady DA, Roy A, Finegold MJ. Liver tumors in children with metabolic disorders. Transl Pediatr. 2015 Oct; 4(4):290-303. PMID: 26835391; PMCID: PMC4728996.
      Citations: 4     
    56. Ballester LY, Sarabia SF, Sayeed H, Patel N, Baalwa J, Athanassaki I, Hernandez JA, Fang E, Quintanilla NM, Roy A, L?pez-Terrada DH. Integrating Molecular Testing in the Diagnosis and Management of Children with Thyroid Lesions. Pediatr Dev Pathol. 2016 Mar-Apr; 19(2):94-100. PMID: 26366474.
      Citations: 15     Fields:    Translation:HumansCells
    57. Peters TL, Kumar V, Polikepahad S, Lin FY, Sarabia SF, Liang Y, Wang WL, Lazar AJ, Doddapaneni H, Chao H, Muzny DM, Wheeler DA, Okcu MF, Plon SE, Hicks MJ, Parsons DW, Roy A, L?pez-Terrada D. BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children. Mod Pathol. 2015 Apr; 28(4):575-86. PMID: 25360585; PMCID: PMC4385430.
      Citations: 37     Fields:    Translation:Humans
    58. Parsons DW, Roy A, Plon SE, Roychowdhury S, Chinnaiyan AM. Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings. J Clin Oncol. 2014 Jul 20; 32(21):2203-5. PMID: 24958819; PMCID: PMC4188159.
      Citations: 20     Fields:    Translation:Humans
    59. Blanco EM, Curry CV, Lu XY, Sarabia SF, Redell MS, Lopez-Terrada DH, Roy A. Cytogenetically cryptic and FISH-negative PML/RARA rearrangement in acute promyelocytic leukemia detected only by PCR: an exceedingly rare phenomenon. Cancer Genet. 2014 Jan-Feb; 207(1-2):48-9. PMID: 24561214.
      Citations: 13     Fields:    Translation:HumansCells
    60. Franzblau EB, Punzalan RC, Friedman KD, Roy A, Bilen O, Flood VH. Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. Pediatr Blood Cancer. 2013 Mar; 60(3):500-2. PMID: 23129109; PMCID: PMC4461026.
      Citations: 2     Fields:    Translation:Humans
    61. Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ. Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Hum Pathol. 2012 Jun; 43(6):943-51. PMID: 22305237.
      Citations: 10     Fields:    Translation:Humans
    62. Chavan RS, Patel KU, Roy A, Thompson PA, Chintagumpala M, Goss JA, Nuchtern JG, Finegold MJ, Parsons DW, L?pez-Terrada DH. Mutations of PTCH1, MLL2, and MLL3 are not frequent events in hepatoblastoma. Pediatr Blood Cancer. 2012 Jun; 58(6):1006-7. PMID: 22183980.
      Citations: 1     Fields:    Translation:Humans
    63. Yatsenko AN, O'Neil DS, Roy A, Arias-Mendoza PA, Chen R, Murthy LJ, Lamb DJ, Matzuk MM. Association of mutations in the zona pellucida binding protein 1 (ZPBP1) gene with abnormal sperm head morphology in infertile men. Mol Hum Reprod. 2012 Jan; 18(1):14-21. PMID: 21911476; PMCID: PMC3244884.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    64. Roy A, Matzuk MM. Reproductive tract function and dysfunction in women. Nat Rev Endocrinol. 2011 May 24; 7(9):517-25. PMID: 21610684.
      Citations: 12     Fields:    Translation:Humans
    65. Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F. Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. Mol Genet Metab. 2011 Jul; 103(3):262-7. PMID: 21478040.
      Citations: 7     Fields:    Translation:Humans
    66. Wang WL, Roy A, Lopez-Terrada D, Lazar AJ, Fletcher CD, Coffin CM, Hornick JL, Mari?o-Enr?quez A. Epithelioid inflammatory myofibroblastic sarcoma: An aggressive intra-abdominal variant of inflammatory myofibroblastic tumor with nuclear membrane or perinuclear ALK. Am J Surg Pathol. 2011 Jan; 35(1):135-44. PMID: 21164297.
      Citations: 75     Fields:    Translation:HumansCells
    67. Roy A, Finegold MJ. Hepatic neoplasia and metabolic diseases in children. Clin Liver Dis. 2010 Nov; 14(4):731-46. PMID: 21055693.
      Citations: 2     Fields:    Translation:Humans
    68. Roy A, Finegold MJ. Biopsy Diagnosis of Inherited Liver Disease. Surg Pathol Clin. 2010 Sep; 3(3):743-68. PMID: 26839229.
      Citations: 3     Fields:    
    69. Ma L, Buchold GM, Greenbaum MP, Roy A, Burns KH, Zhu H, Han DY, Harris RA, Coarfa C, Gunaratne PH, Yan W, Matzuk MM. GASZ is essential for male meiosis and suppression of retrotransposon expression in the male germline. PLoS Genet. 2009 Sep; 5(9):e1000635. PMID: 19730684; PMCID: PMC2727916.
      Citations: 92     Fields:    Translation:AnimalsCells
    70. Roy A, Lin YN, Agno JE, DeMayo FJ, Matzuk MM. Tektin 3 is required for progressive sperm motility in mice. Mol Reprod Dev. 2009 May; 76(5):453-9. PMID: 18951373; PMCID: PMC2657187.
      Citations: 23     Fields:    Translation:AnimalsCells
    71. Lin YN, Roy A, Yan W, Burns KH, Matzuk MM. Loss of zona pellucida binding proteins in the acrosomal matrix disrupts acrosome biogenesis and sperm morphogenesis. Mol Cell Biol. 2007 Oct; 27(19):6794-805. PMID: 17664285; PMCID: PMC2099232.
      Citations: 83     Fields:    Translation:HumansAnimalsCells
    72. Roy A, Lin YN, Agno JE, DeMayo FJ, Matzuk MM. Absence of tektin 4 causes asthenozoospermia and subfertility in male mice. FASEB J. 2007 Apr; 21(4):1013-25. PMID: 17244819.
      Citations: 39     Fields:    Translation:HumansAnimalsCells
    73. Roy A, Matzuk MM. Society for Reproductive Biology Founders' Lecture 2007. Insights into germ cell biology: from the bench to the clinic. Reprod Fertil Dev. 2007; 19(7):783-91. PMID: 17897580.
      Citations:    Fields:    Translation:HumansAnimalsCells
    74. Roy A, Lin YN, Matzuk MM. Shaping the sperm head: an ER enzyme leaves its mark. J Clin Invest. 2006 Nov; 116(11):2860-3. PMID: 17080191; PMCID: PMC1626139.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    75. Yatsenko AN, Roy A, Chen R, Ma L, Murthy LJ, Yan W, Lamb DJ, Matzuk MM. Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization. Hum Mol Genet. 2006 Dec 01; 15(23):3411-9. PMID: 17047026.
      Citations: 52     Fields:    Translation:HumansCells
    76. Sen K, Roy A. Management of neonatal purpura fulminans with severe protein C deficiency. Indian Pediatr. 2006 Jun; 43(6):542-5. PMID: 16820665.
      Citations: 3     Fields:    Translation:Humans
    77. Roy A, Matzuk MM. Deconstructing mammalian reproduction: using knockouts to define fertility pathways. Reproduction. 2006 Feb; 131(2):207-19. PMID: 16452715.
      Citations: 19     Fields:    Translation:HumansAnimals
    78. Roy A, Yan W, Burns KH, Matzuk MM. Tektin3 encodes an evolutionarily conserved putative testicular microtubules-related protein expressed preferentially in male germ cells. Mol Reprod Dev. 2004 Mar; 67(3):295-302. PMID: 14735490.
      Citations: 18     Fields:    Translation:AnimalsCells
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