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Pediatric therapy-related hematologic neoplasms show enrichment for KMT2A rearrangement and lymphoblastic phenotype. Leuk Lymphoma. 2024 Aug 08; 1-13.
Kovach AE, Komova D, Itov A, Gaskova M, Kalinina I, Voronin K, Rumiantseva Y, Karachunskii A, Maschan M, Maschan A, Novichkova G, Olshanskaya Y, Bhojwani D, Raca G, Zerkalenkova E. PMID: 39116419.
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PubMed Mentions: Fields:
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Development of second genetically distinct T-lymphoblastic leukemia in a pediatric patient. Pediatr Blood Cancer. 2024 Aug; 71(8):e31050.
Hultquist H, Rodriguez A, Ferreira JE, Placek A, Miller KP, Wood BL, Bhojwani D, Kapoor N, Raca G, Gaynon P, Kovach AE. PMID: 38736199; PMCID: PMC11208117.
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PubMed Mentions: Fields:
Translation:
Humans
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A de novo germline RUNX1 variant preceding development of concurrent T-lymphoblastic leukemia and myelodysplastic syndrome. Leuk Lymphoma. 2024 Sep; 65(9):1357-1361.
Wang CP, Ferreira JE, Placek A, Aguayo-Hiraldo P, Raca G, Wood BL, Miller KP, Coates T, Freyer DR, Kovach AE. PMID: 38733629.
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PubMed Mentions: Fields:
Translation:
Humans
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IKZF1PLUS alterations contribute to outcome disparities in Hispanic/Latino children with B-lymphoblastic leukemia. Pediatr Blood Cancer. 2024 Jul; 71(7):e30996.
Kovach AE, Wengyn M, Vu MH, Doan A, Raca G, Bhojwani D. PMID: 38637852; PMCID: PMC11193948.
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PubMed Mentions: Fields:
Translation:
Humans
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Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis. J Mol Diagn. 2024 May; 26(5):337-348.
Lee B, Nasanovsky L, Shen L, Maglinte DT, Pan Y, Gai X, Schmidt RJ, Raca G, Biegel JA, Roytman M, An P, Saunders CJ, Farrow EG, Shams S, Ji J. PMID: 38360210.
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Translation:
Humans
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Section E6.1-6.6 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in neoplastic blood, bone marrow, and lymph nodes. Genet Med. 2024 04; 26(4):101054.
Akkari Y, Baughn LB, Kim A, Karaca E, Raca G, Shao L, Mikhail FM, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. PMID: 38349293.
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Translation:
Humans
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A framework for the clinical implementation of optical genome mapping in hematologic malignancies. Am J Hematol. 2024 04; 99(4):642-661.
Levy B, Kanagal-Shamanna R, Sahajpal NS, Neveling K, Rack K, Dewaele B, Olde Weghuis D, Stevens-Kroef M, Puiggros A, Mallo M, Clifford B, Mantere T, Hoischen A, Espinet B, Kolhe R, Solé F, Raca G, Smith AC. PMID: 38164980.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Analytic Validation of Optical Genome Mapping in Hematological Malignancies. Biomedicines. 2023 Dec 09; 11(12).
Pang AWC, Kosco K, Sahajpal NS, Sridhar A, Hauenstein J, Clifford B, Estabrook J, Chitsazan AD, Sahoo T, Iqbal A, Kolhe R, Raca G, Hastie AR, Chaubey A. PMID: 38137484; PMCID: PMC10741484.
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PubMed Mentions:
3
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An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors. J Mol Diagn. 2024 02; 26(2):127-139.
Buckley J, Schmidt RJ, Ostrow D, Maglinte D, Bootwalla M, Ruble D, Govindarajan A, Ji J, Kovach AE, Orgel E, Raca G, Navid F, Mascarenhas L, Pawel B, Robison N, Gai X, Biegel JA. PMID: 38008288.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma. Mod Pathol. 2024 Feb; 37(2):100385.
Zhou S, Sarabia SF, Estrine D, Ostrow D, Schmidt RJ, Warren M, Raca G, Shillingford N, Wang L, Pawel B, Stein JE, Biegel JA, Lopez-Terrada D, Mascarenhas L, Ji J. PMID: 37992967.
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Translation:
Humans
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Cytogenetics Is a Science, Not a Technique! Why Optical Genome Mapping Is So Important to Clinical Genetic Laboratories. Cancers (Basel). 2023 Nov 19; 15(22).
Smith AC, Hoischen A, Raca G. PMID: 38001730; PMCID: PMC10670395.
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PubMed Mentions:
-
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Pediatric Sertoli-Leydig Cell Tumors of the Ovary: An Integrated Study of Clinicopathological Features, Pan-cancer-Targeted Next-generation Sequencing and Chromosomal Microarray Analysis From a Single Institution. Am J Surg Pathol. 2024 Feb 01; 48(2):194-203.
Yang B, Chour W, Salazar CG, Zamiara P, Schmidt RJ, Raca G, Shillingford N, Zhou S, Warren M, Parham DM, Pawel B, Wang LL. PMID: 37946548.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Diagnostic Yield of Epilepsy-Genes Sequencing and Chromosomal Microarray in Pediatric Epilepsy. Pediatr Neurol. 2024 Jan; 150:50-56.
Burk KC, Kaneko M, Quindipan C, Vu MH, Cepin MF, Santoro JD, Van Hirtum-Das M, Holder D, Raca G. PMID: 37979304.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Response to Spurdle et al. Genet Med. 2023 Aug; 25(8):100869.
Riggs ER, Andersen EF, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL. PMID: 37261438.
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PubMed Mentions: Fields:
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Efficacy and safety of FLAG-IDA as front-line therapy in de novo paediatric acute myeloid leukaemia population. Br J Haematol. 2023 07; 202(1):e3-e6.
Doan A, Huang HKT, Hadar AJ, Malvar J, Rushing T, Raca G, Kovach AE, Freyer DR, Parekh C, Stokke J, Posch LC, Dao J, Bhojwani D, Gaynon P, Orgel E. PMID: 37129267; PMCID: PMC10330637.
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PubMed Mentions: Fields:
Translation:
Humans
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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain. 2023 04 19; 146(4):1357-1372.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB, Genomics England Research Consortium, Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. PMID: 36074901; PMCID: PMC10319782.
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PubMed Mentions:
6 Fields:
Translation:
HumansAnimals
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Modern Classification and Management of Pediatric B-cell Leukemia and Lymphoma. Surg Pathol Clin. 2023 Jun; 16(2):249-266.
Kovach AE, Raca G. PMID: 37149359.
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Translation:
Humans
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CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2023 01 06; 51(D1):D1230-D1241.
Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. PMID: 36373660; PMCID: PMC9825608.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 02; 25(2):100316.
Raca G, Astbury C, Behlmann A, De Castro MJ, Hickey SE, Karaca E, Lowther C, Riggs ER, Seifert BA, Thorland EC, Deignan JL, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. PMID: 36507974.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). Genet Med. 2022 Sep; 24(9):1991.
Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, Warner JL, Rao S, Natesan M, Shen H, Venstrom J, Roy S, Tao K, Kanagal-Shamanna R, Xu X, Ritter DI, Pagel K, Krysiak K, Dubuc A, Akkari YM, Li XS, Lee J, King I, Raca G, Wagner AH, Li MM, Plon SE, Kulkarni S, Griffith OL, Chakravarty D, Sonkin D. PMID: 36063163.
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PubMed Mentions:
2 Fields:
-
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PubMed Mentions:
3 Fields:
Translation:
Humans
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A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 05; 3(5):522-525.
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. PMID: 35624339; PMCID: PMC9872366.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions. Cancer Genet. 2022 06; 264-265:50-59.
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. PMID: 35366592; PMCID: PMC9252326.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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MUC4 expression by immunohistochemistry is a specific marker for BCR-ABL1+ and BCR-ABL1-like B-lymphoblastic leukemia. Leuk Lymphoma. 2022 06; 63(6):1436-1444.
Kaumeyer B, Fidai S, Sukhanova M, Yap KL, Segal J, Raca G, Stock W, McNeer J, Lager AM, Gurbuxani S. PMID: 35171727.
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PubMed Mentions: Fields:
Translation:
Humans
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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). Genet Med. 2022 05; 24(5):986-998.
Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, Warner JL, Rao S, Natesan M, Shen H, Venstrom J, Roy S, Tao K, Kanagal-Shamanna R, Xu X, Ritter DI, Pagel K, Krysiak K, Dubuc A, Akkari YM, Li XS, Lee J, King I, Raca G, Wagner AH, Li MM, Plon SE, Kulkarni S, Griffith OL, Chakravarty D, Sonkin D. PMID: 35101336; PMCID: PMC9081216.
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PubMed Mentions:
54 Fields:
Translation:
Humans
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Correction to: Recommendations for future extensions to the HGNC gene fusion nomenclature. Leukemia. 2022 Jan; 36(1):299-300.
Wagner AH, Akkari Y, Li M, Roy A, Tsuchiya K, Raca G. PMID: 34907337; PMCID: PMC9119254.
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PubMed Mentions: Fields:
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Acute myeloid leukemia with t(X;6)9p11;q23);MYB-GATA1 and female sex: GATA1 insufficiency may be insufficient for pathogenesis. Cancer Genet. 2022 01; 260-261:37-40.
Kovach AE, Zerkalenkova E, Zemtsova L, Borkovskaya A, Gaskova M, Kazanov M, Popov A, Baidun L, Maschan M, Maschan A, Gaynon PS, Bhojwani D, Novichkova G, Olshanskaya Y, Raca G. PMID: 34915342.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Recommendations for future extensions to the HGNC gene fusion nomenclature. Leukemia. 2021 12; 35(12):3611-3612.
Wagner AH, Akkari Y, Li M, Roy A, Tsuchiya K, Raca G. PMID: 34764425; PMCID: PMC8632684.
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PubMed Mentions: Fields:
Translation:
Humans
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Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2021 Nov; 23(11):2230.
Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL. PMID: 33731880.
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PubMed Mentions:
20 Fields:
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PLAG1 Immunohistochemical Staining Is a Surrogate Marker for PLAG1 Fusions in Lipoblastomas. Pediatr Dev Pathol. 2022 Mar-Apr; 25(2):134-140.
Warren M, Tiwari N, Sy S, Raca G, Schmidt RJ, Pawel B. PMID: 34601996.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Pediatric Metastatic Hepatoblastoma With an ARID1A Mutation and Rhabdoid Cells. Int J Surg Pathol. 2022 May; 30(3):307-312.
Alturkustani M, Gallant R, Raca G, Ranganathan S, Mahabir R, Biegel JA, Mascarenhas L, Moke D, Szymanski LJ. PMID: 34488461.
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PubMed Mentions: Fields:
Translation:
Humans
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Increased prevalence of CRLF2 rearrangements in obesity-associated acute lymphoblastic leukemia. Blood. 2021 07 15; 138(2):199-202.
Mittelman SD, Kim J, Raca G, Li G, Oberley MJ, Orgel E. PMID: 33876219; PMCID: PMC8288656.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review. Int J Surg Pathol. 2022 Apr; 30(2):172-176.
Alturkustani M, Schmidt R, Gayer C, Warren M, Navid F, Raca G, Biegel JA, Pawel B, Zhou S. PMID: 34106024.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Increased Incidence of IKZF1 deletions and IGH-CRLF2 translocations in B-ALL of Hispanic/Latino children-a novel health disparity. Leukemia. 2021 08; 35(8):2399-2402.
Raca G, Abdel-Azim H, Yue F, Broach J, Payne JL, Reeves ME, Gowda C, Schramm J, Desai D, Dovat E, Hu T, Berg AS, Bhojwani D, Payne KJ, Dovat S. PMID: 33531655; PMCID: PMC8324481.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee. Arch Pathol Lab Med. 2021 02 01; 145(2):176-190.
Larson DP, Akkari YM, Van Dyke DL, Raca G, Gardner JA, Rehder CW, Kaiser-Rogers KA, Eagle P, Yuhas JA, Gu J, Toydemir RM, Kearney H, Conlin LK, Tang G, Dolan MM, Ketterling RP, Peterson JF. PMID: 32886736.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies. Cancer Genet. 2021 06; 254-255:25-33.
Hiemenz MC, Oberley MJ, Doan A, Aye L, Ji J, Schmidt RJ, Biegel JA, Bhojwani D, Raca G. PMID: 33571894.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Primary Knee Intra-articular Synovial Sarcoma in Pediatric and Adolescent Patients. Pediatr Dev Pathol. 2021 Mar-Apr; 24(2):159-163.
Cao Q, Shillingford N, Huh W, VandenBerg C, Raca G, Allison DC, Wang L, Zhou S. PMID: 33470917.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder. Eur J Med Genet. 2021 Jan; 64(1):104121.
Kaneko M, Rosser T, Raca G. PMID: 33307280.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Response to Mounts and Besser. Genet Med. 2021 01; 23(1):240-242.
Raca G, Shinawi M, Gaudio DD, American College of Medical Genetics and Genomics. PMID: 32814848.
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PubMed Mentions: Fields:
Translation:
Humans
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Response to Maya et al. Genet Med. 2020 07; 22(7):1278-1279.
Riggs ER, Andersen EF, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL, American College of Medical Genetics and Genomics. PMID: 32341575.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 07; 22(7):1133-1141.
Del Gaudio D, Shinawi M, Astbury C, Tayeh MK, Deak KL, Raca G, ACMG Laboratory Quality Assurance Committee. PMID: 32296163.
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PubMed Mentions:
56 Fields:
Translation:
Humans
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A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer. Nat Genet. 2020 04; 52(4):448-457.
Wagner AH, Walsh B, Mayfield G, Tamborero D, Sonkin D, Krysiak K, Deu-Pons J, Duren RP, Gao J, McMurry J, Patterson S, Del Vecchio Fitz C, Pitel BA, Sezerman OU, Ellrott K, Warner JL, Rieke DT, Aittokallio T, Cerami E, Ritter DI, Schriml LM, Freimuth RR, Haendel M, Raca G, Madhavan S, Baudis M, Beckmann JS, Dienstmann R, Chakravarty D, Li XS, Mockus S, Elemento O, Schultz N, Lopez-Bigas N, Lawler M, Goecks J, Griffith M, Griffith OL, Margolin AA, Variant Interpretation for Cancer Consortium. PMID: 32246132; PMCID: PMC7127986.
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PubMed Mentions:
65 Fields:
Translation:
Humans
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Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia. Cancer Genet. 2020 05; 243:52-72.
Akkari YMN, Bruyere H, Hagelstrom RT, Kanagal-Shamanna R, Liu J, Luo M, Mikhail FM, Pitel BA, Raca G, Shago M, Shao L, Smith LR, Smolarek TA, Yenamandra A, Baughn LB. PMID: 32302940.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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Standard operating procedure for curation and clinical interpretation of variants in cancer. Genome Med. 2019 11 29; 11(1):76.
Danos AM, Krysiak K, Barnell EK, Coffman AC, McMichael JF, Kiwala S, Spies NC, Sheta LM, Pema SP, Kujan L, Clark KA, Wollam AZ, Rao S, Ritter DI, Sonkin D, Raca G, Lin WH, Grisdale CJ, Kim RH, Wagner AH, Madhavan S, Griffith M, Griffith OL. PMID: 31779674; PMCID: PMC6883603.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 02; 22(2):245-257.
Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL. PMID: 31690835; PMCID: PMC7313390.
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PubMed Mentions:
544 Fields:
Translation:
Humans
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Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC). Genet Med. 2019 09; 21(9):1903-1916.
Mikhail FM, Biegel JA, Cooley LD, Dubuc AM, Hirsch B, Horner VL, Newman S, Shao L, Wolff DJ, Raca G. PMID: 31138931.
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PubMed Mentions:
21 Fields:
Translation:
Humans
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A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants. Cold Spring Harb Mol Case Stud. 2019 04; 5(2).
Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X. PMID: 30755392; PMCID: PMC6549575.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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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.
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. PMID: 30311370; PMCID: PMC6282863.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms. Cancer Genet. 2018 12; 228-229:197-217.
Kanagal-Shamanna R, Hodge JC, Tucker T, Shetty S, Yenamandra A, Dixon-McIver A, Bryke C, Huxley E, Lennon PA, Raca G, Xu X, Jeffries S, Quintero-Rivera F, Greipp PT, Slovak ML, Iqbal MA, Fang M. PMID: 30377088.
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PubMed Mentions:
15 Fields:
Translation:
Humans
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Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group. Cancer Genet. 2018 12; 228-229:218-235.
Xu X, Bryke C, Sukhanova M, Huxley E, Dash DP, Dixon-Mciver A, Fang M, Griepp PT, Hodge JC, Iqbal A, Jeffries S, Kanagal-Shamanna R, Quintero-Rivera F, Shetty S, Slovak ML, Yenamandra A, Lennon PA, Raca G. PMID: 30344013.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies. J Mol Diagn. 2018 11; 20(6):765-776.
Hiemenz MC, Ostrow DG, Busse TM, Buckley J, Maglinte DT, Bootwalla M, Done J, Ji J, Raca G, Ryutov A, Xu X, Zhen CJ, Conroy JM, Hazard FK, Deignan JL, Rogers BB, Treece AL, Parham DM, Gai X, Judkins AR, Triche TJ, Biegel JA. PMID: 30138724.
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PubMed Mentions:
34 Fields:
Translation:
Humans
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Myeloid lineage switch following chimeric antigen receptor T-cell therapy in a patient with TCF3-ZNF384 fusion-positive B-lymphoblastic leukemia. Pediatr Blood Cancer. 2018 09; 65(9):e27265.
Oberley MJ, Gaynon PS, Bhojwani D, Pulsipher MA, Gardner RA, Hiemenz MC, Ji J, Han J, O'Gorman MRG, Wayne AS, Raca G. PMID: 29797659; PMCID: PMC7469918.
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PubMed Mentions:
34 Fields:
Translation:
HumansCells
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Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies. Blood Adv. 2018 01 23; 2(2):146-150.
Drazer MW, Kadri S, Sukhanova M, Patil SA, West AH, Feurstein S, Calderon DA, Jones MF, Weipert CM, Daugherty CK, Ceballos-López AA, Raca G, Lingen MW, Li Z, Segal JP, Churpek JE, Godley LA. PMID: 29365323; PMCID: PMC5787862.
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PubMed Mentions:
43 Fields:
Translation:
HumansCells
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A neoplasm with FIP1L1-PDGFRA fusion presenting as pediatric T-cell lymphoblastic leukemia/lymphoma without eosinophilia. Cancer Genet. 2017 Oct; 216-217:91-99.
Oberley MJ, Denton C, Ji J, Hiemenz M, Bhojwani D, Ostrow D, Wu S, Gaynon P, Raca G. PMID: 29025601; PMCID: PMC7469920.
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PubMed Mentions:
3 Fields:
Translation:
HumansCells
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Diagnostic evaluation of RNA sequencing for the detection of genetic abnormalities associated with Ph-like acute lymphoblastic leukemia (ALL). Leuk Lymphoma. 2017 04; 58(4):950-958.
Yap KL, Furtado LV, Kiyotani K, Curran E, Stock W, McNeer JL, Kadri S, Segal JP, Nakamura Y, Le Beau MM, Gurbuxani S, Raca G. PMID: 27855558; PMCID: PMC6077981.
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PubMed Mentions:
10 Fields:
Translation:
HumansCells
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Congenital B-lymphoblastic leukemia with a cryptic MLL rearrangement and post-treatment evolution to mixed phenotype acute leukemia. Leuk Res Rep. 2016; 6:29-32.
Moschiano E, Raca G, Fu C, Pattengale PK, Oberley MJ. PMID: 27547725; PMCID: PMC4982915.
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PubMed Mentions:
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Segmental Chromosomal Aberrations in Localized Neuroblastoma Can be Detected in Formalin-Fixed Paraffin-Embedded Tissue Samples and Are Associated With Recurrence. Pediatr Blood Cancer. 2016 Jun; 63(6):1019-23.
Pinto N, Mayfield JR, Raca G, Applebaum MA, Chlenski A, Sukhanova M, Bagatell R, Irwin MS, Little A, Rawwas J, Gosiengfiao Y, Delattre O, Janoueix-Lerosey I, Lapouble E, Schleiermacher G, Cohn SL. PMID: 26864375; PMCID: PMC5109976.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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Cerdulatinib, a novel dual SYK/JAK kinase inhibitor, has broad anti-tumor activity in both ABC and GCB types of diffuse large B cell lymphoma. Oncotarget. 2015 Dec 22; 6(41):43881-96.
Ma J, Xing W, Coffey G, Dresser K, Lu K, Guo A, Raca G, Pandey A, Conley P, Yu H, Wang YL. PMID: 26575169; PMCID: PMC4791274.
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PubMed Mentions:
31 Fields:
Translation:
HumansCells
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MYC Amplification in Angiosarcoma Arising from an Arteriovenous Graft Site. Case Rep Pathol. 2015; 2015:537297.
Paral KM, Raca G, Krausz T. PMID: 26682080; PMCID: PMC4670641.
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PubMed Mentions:
4
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RCSD1-ABL1 Translocation Associated with IKZF1 Gene Deletion in B-Cell Acute Lymphoblastic Leukemia. Case Rep Hematol. 2015; 2015:353247.
Kamran S, Raca G, Nazir K. PMID: 26600955; PMCID: PMC4639642.
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PubMed Mentions:
3
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T-LAK cell-originated protein kinase presents a novel therapeutic target in FLT3-ITD mutated acute myeloid leukemia. Oncotarget. 2015 Oct 20; 6(32):33410-25.
Alachkar H, Mutonga M, Malnassy G, Park JH, Fulton N, Woods A, Meng L, Kline J, Raca G, Odenike O, Takamatsu N, Miyamoto T, Matsuo Y, Stock W, Nakamura Y. PMID: 26450903; PMCID: PMC4741775.
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PubMed Mentions:
15 Fields:
Translation:
HumansAnimalsCells
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Prognosis in Chronic Lymphocytic Leukemia-Reply. JAMA Oncol. 2015 Oct; 1(7):988-9.
Nabhan C, Raca G, Wang YL. PMID: 26448290.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Predicting Prognosis in Chronic Lymphocytic Leukemia in the Contemporary Era. JAMA Oncol. 2015 Oct; 1(7):965-74.
Nabhan C, Raca G, Wang YL. PMID: 26181643.
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PubMed Mentions:
28 Fields:
Translation:
Humans
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Next-generation sequencing reveals clinically actionable molecular markers in myeloid sarcoma. Leukemia. 2015 Oct; 29(10):2113-6.
Li Z, Stölzel F, Onel K, Sukhanova M, Mirza MK, Yap KL, Borinets O, Larson RA, Stock W, Sasaki MM, Joseph L, Raca G. PMID: 25787914; PMCID: PMC4575593.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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RCSD1-ABL2 fusion resulting from a complex chromosomal rearrangement in high-risk B-cell acute lymphoblastic leukemia. Leuk Lymphoma. 2015 Apr; 56(4):1145-7.
Raca G, Gurbuxani S, Zhang Z, Li Z, Sukhanova M, McNeer J, Stock W. PMID: 25098428.
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PubMed Mentions:
3 Fields:
Translation:
HumansCells
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Genomic aberrations in myeloid sarcoma without blood or bone marrow involvement: characterization of formalin-fixed paraffin-embedded samples by chromosomal microarrays. Leuk Res. 2014 Sep; 38(9):1091-6.
Mirza MK, Sukhanova M, Stölzel F, Onel K, Larson RA, Stock W, Ehninger G, Kuithan F, Zöphel K, Reddy P, Joseph L, Raca G. PMID: 25088808; PMCID: PMC4157130.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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PLZF staining identifies peripheral T-cell lymphomas derived from innate-like T-cells with TRAV1-2-TRAJ33 TCR-α rearrangement. Blood. 2014 Apr 24; 123(17):2742-3.
McGregor S, Shah A, Raca G, Mirza MK, Smith SM, Anastasi J, Vardiman JW, Hyjek E, Gurbuxani S. PMID: 24764561.
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PubMed Mentions:
9 Fields:
Translation:
HumansCells
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Complex or monosomal karyotype and not blast percentage is associated with poor survival in acute myeloid leukemia and myelodysplastic syndrome patients with inv(3)(q21q26.2)/t(3;3)(q21;q26.2): a Bone Marrow Pathology Group study. Haematologica. 2014 May; 99(5):821-9.
Rogers HJ, Vardiman JW, Anastasi J, Raca G, Savage NM, Cherry AM, Arber D, Moore E, Morrissette JJ, Bagg A, Liu YC, Mathew S, Orazi A, Lin P, Wang SA, Bueso-Ramos CE, Foucar K, Hasserjian RP, Tiu RV, Karafa M, Hsi ED. PMID: 24463215; PMCID: PMC4008101.
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PubMed Mentions:
23 Fields:
Translation:
HumansCells
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MECP2 duplication: possible cause of severe phenotype in females. Am J Med Genet A. 2014 Apr; 164A(4):1029-34.
Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF. PMID: 24458799.
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PubMed Mentions:
13 Fields:
Translation:
Humans
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The advantage of using SNP array in clinical testing for hematological malignancies--a comparative study of three genetic testing methods. Cancer Genet. 2013 Sep-Oct; 206(9-10):317-26.
Xu X, Johnson EB, Leverton L, Arthur A, Watson Q, Chang FL, Raca G, Laffin JJ. PMID: 24269304.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. J Neurodev Disord. 2013 Oct 02; 5(1):29.
Worthey EA, Raca G, Laffin JJ, Wilk BM, Harris JM, Jakielski KJ, Dimmock DP, Strand EA, Shriberg LD. PMID: 24083349; PMCID: PMC3851280.
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PubMed Mentions:
33 Fields:
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A Unique "Composite" PTLD with Diffuse Large B-Cell and T/Anaplastic Large Cell Lymphoma Components Occurring 17 Years after Transplant. Case Rep Hematol. 2013; 2013:386147.
La Fortune K, Zhang D, Raca G, Ranheim EA. PMID: 23738160; PMCID: PMC3662176.
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PubMed Mentions:
1
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The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet. 2013 Mar; 45(3):242-52.
Holmfeldt L, Wei L, Diaz-Flores E, Walsh M, Zhang J, Ding L, Payne-Turner D, Churchman M, Andersson A, Chen SC, McCastlain K, Becksfort J, Ma J, Wu G, Patel SN, Heatley SL, Phillips LA, Song G, Easton J, Parker M, Chen X, Rusch M, Boggs K, Vadodaria B, Hedlund E, Drenberg C, Baker S, Pei D, Cheng C, Huether R, Lu C, Fulton RS, Fulton LL, Tabib Y, Dooling DJ, Ochoa K, Minden M, Lewis ID, To LB, Marlton P, Roberts AW, Raca G, Stock W, Neale G, Drexler HG, Dickins RA, Ellison DW, Shurtleff SA, Pui CH, Ribeiro RC, Devidas M, Carroll AJ, Heerema NA, Wood B, Borowitz MJ, Gastier-Foster JM, Raimondi SC, Mardis ER, Wilson RK, Downing JR, Hunger SP, Loh ML, Mullighan CG. PMID: 23334668; PMCID: PMC3919793.
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PubMed Mentions:
328 Fields:
Translation:
HumansAnimalsCells
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MLL Rearrangment and EVI1 Deletion in BCR/ABL1 Positive Chronic Myeloid Leukemia. J Assoc Genet Technol. 2013; 39(4):190-4.
Ivanov A, Sukhanova M, Raul T, Borinets O, Hui W, Aggarwal V, Raca G. PMID: 26030291.
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PubMed Mentions:
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Two cases of localized neuroblastoma with multiple segmental chromosomal alterations and metastatic progression. Pediatr Blood Cancer. 2013 Feb; 60(2):332-5.
Morales La Madrid A, Nall MB, Ouyang K, Minor A, Raca G, Kent P, Miller I, Schleiermacher G, Janoueix-Lerosey I, Cohn SL. PMID: 22997192.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. Eur J Hum Genet. 2013 Apr; 21(4):455-9.
Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD. PMID: 22909774; PMCID: PMC3598318.
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PubMed Mentions:
30 Fields:
Translation:
HumansCells
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A case of pediatric γ/δ T-cell malignancy with t(8;14)(q24;q11)/MYC-TCR successfully treated with pulse type chemotherapy followed by stem cell transplant. Leuk Lymphoma. 2013 Feb; 54(2):403-5.
Morales La Madrid A, Ouyang K, Raca G, Jamali M, Hyjek E, McNeer JL, Anastasi J. PMID: 22800289.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Acute myeloid leukemia: the challenge of unfavorable cytogenetics. Oncology (Williston Park). 2012 Aug; 26(8):724, 726-7.
Raca G, Larson RA. PMID: 22957405.
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PubMed Mentions: Fields:
Translation:
Humans
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Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. Genet Med. 2012 Nov; 14(11):928-36.
Laffin JJ, Raca G, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD. PMID: 22766611; PMCID: PMC3563158.
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PubMed Mentions:
29 Fields:
Translation:
HumansCells
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Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene. Am J Med Genet A. 2012 Jun; 158A(6):1437-41.
Laimutis K, Jackson C, Xu X, Warman B, Sarunas R, Andriuskeviciute I, Birute P, Schimmenti LA, Raca G. PMID: 22581475; PMCID: PMC4098919.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Phenotype of FOXP2 haploinsufficiency in a mother and son. Am J Med Genet A. 2012 Jan; 158A(1):174-81.
Rice GM, Raca G, Jakielski KJ, Laffin JJ, Iyama-Kurtycz CM, Hartley SL, Sprague RE, Heintzelman AT, Shriberg LD. PMID: 22106036; PMCID: PMC3319495.
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PubMed Mentions:
36 Fields:
Translation:
HumansCells
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DNA methylation assay for X-chromosome inactivation in female human iPS cells. Stem Cell Rev Rep. 2011 Nov; 7(4):969-75.
Kiedrowski LA, Raca G, Laffin JJ, Nisler BS, Leonhard K, McIntire E, Mongomery KD. PMID: 21373884.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet Med. 2011 May; 13(5):437-42.
Raca G, Jackson CA, Kucinskas L, Warman B, Shieh JT, Schneider A, Bardakjian TM, Schimmenti LA. PMID: 21285886; PMCID: PMC4237064.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism. Cytogenet Genome Res. 2011; 132(4):233-8.
Vásquez-Velásquez AI, García-Castillo HA, González-Mercado MG, Dávalos IP, Raca G, Xu X, Dwyer E, Rivera H. PMID: 21063078.
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PubMed Mentions: Fields:
Translation:
HumansCells
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Chromosomal abnormalities in 2 cases of testicular failure. J Androl. 2011 May-Jun; 32(3):226-31.
Chen X, Raca G, Laffin J, Babaian KN, Williams DH. PMID: 20966427.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals. Am J Med Genet A. 2010 Apr; 152A(4):904-15.
Thorson L, Bryke C, Rice G, Artzer A, Schilz C, Israel J, Huber S, Laffin J, Raca G. PMID: 20358600.
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PubMed Mentions:
8 Fields:
Translation:
HumansCells
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Next generation sequencing in research and diagnostics of ocular birth defects. Mol Genet Metab. 2010 Jun; 100(2):184-92.
Raca G, Jackson C, Warman B, Bair T, Schimmenti LA. PMID: 20359920; PMCID: PMC2871986.
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PubMed Mentions:
16 Fields:
Translation:
HumansCells
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Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism. Am J Med Genet A. 2009 Nov; 149A(11):2588-92.
Tyler CT, Rice GM, Grady M, Raca G. PMID: 19876897.
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PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth. Am J Med Genet A. 2009 Nov; 149A(11):2437-43.
Raca G, Artzer A, Thorson L, Huber S, Modaff P, Laffin J, Pauli RM. PMID: 19876905.
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PubMed Mentions:
12 Fields:
Translation:
HumansCells
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Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genet Med. 2008 Aug; 10(8):599-611.
Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin CL. PMID: 18641517; PMCID: PMC2953383.
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PubMed Mentions:
26 Fields:
Translation:
HumansCells
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Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome. Am J Med Genet A. 2008 Feb 01; 146A(3):401-4.
Raca G, Schimmenti L, Martin CL. PMID: 18203172.
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PubMed Mentions: Fields:
Translation:
HumansCells
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Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. Am J Med Genet A. 2008 Feb 01; 146A(3):354-60.
Nowaczyk MJ, Carter MT, Xu J, Huggins M, Raca G, Das S, Martin CL, Schwartz S, Rosenfield R, Waggoner DJ. PMID: 18203180.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. Genet Med. 2005 Oct; 7(8):524-33.
Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S. PMID: 16247291.
View in:
PubMed Mentions:
19 Fields:
Translation:
Humans
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Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR. Genet Test. 2004; 8(4):387-94.
Raca G, Buiting K, Das S. PMID: 15684868.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansCTClinical Trials
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Progressive dystonia in a 12-year-old boy. Eur J Paediatr Neurol. 2003; 7(2):85-8.
Klepper J, Schaper J, Raca G, Coryell J, Das S, Hayflick SJ, Voit T. PMID: 12697433.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
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Expansion of the (CTG)(n) repeat in the 5'-UTR of a reporter gene impedes translation. Nucleic Acids Res. 2000 Oct 15; 28(20):3943-9.
Raca G, Siyanova EY, McMurray CT, Mirkin SM. PMID: 11024174; PMCID: PMC110791.
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PubMed Mentions:
19 Fields:
Translation:
HumansCells
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Trinucleotide repeats affect DNA replication in vivo. Nat Genet. 1997 Nov; 17(3):298-304.
Samadashwily GM, Raca G, Mirkin SM. PMID: 9354793.
View in:
PubMed Mentions:
131 Fields:
Translation:
Cells