Below are the most recent publications written about "Heterozygote" by people in Profiles.
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McDuff SGR, Bellon JR, Shannon KM, Gadd MA, Dunn S, Rosenstein BS, Ho AY. ATM Variants in Breast Cancer: Implications for Breast Radiation Therapy Treatment Recommendations. Int J Radiat Oncol Biol Phys. 2021 08 01; 110(5):1373-1382.
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Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 10 01; 107(4):763-777.
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Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder MA, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Hum Mol Genet. 2019 02 15; 28(4):525-538.
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Sun JX, He Y, Sanford E, Montesion M, Frampton GM, Vignot S, Soria JC, Ross JS, Miller VA, Stephens PJ, Lipson D, Yelensky R. A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal. PLoS Comput Biol. 2018 02; 14(2):e1005965.
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Yan Q, Bancos I, Gruber LM, Bancos C, McKenzie TJ, Babovic-Vuksanovic D, Young WF. When Biochemical Phenotype Predicts Genotype: Pheochromocytoma and Paraganglioma. Am J Med. 2018 05; 131(5):506-509.
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Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. Br J Dermatol. 2017 07; 177(1):319-322.
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Golan T, Raitses-Gurevich M, Kelley RK, Bocobo AG, Borgida A, Shroff RT, Holter S, Gallinger S, Ahn DH, Aderka D, Apurva J, Bekaii-Saab T, Friedman E, Javle M. Overall Survival and Clinical Characteristics of BRCA-Associated Cholangiocarcinoma: A Multicenter Retrospective Study. Oncologist. 2017 07; 22(7):804-810.
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Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Neurology. 2017 Jan 31; 88(5):483-492.
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Vahidnezhad H, Youssefian L, Baghdadi T, Sotoudeh S, Tavassoli A, Zeinali S, Afsharaalam S, Uitto J. Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum. Br J Dermatol. 2016 Oct; 175(4):810-4.
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Lotan TL, Wei W, Ludkovski O, Morais CL, Guedes LB, Jamaspishvili T, Lopez K, Hawley ST, Feng Z, Fazli L, Hurtado-Coll A, McKenney JK, Simko J, Carroll PR, Gleave M, Lin DW, Nelson PS, Thompson IM, True LD, Brooks JD, Lance R, Troyer D, Squire JA. Analytic validation of a clinical-grade PTEN immunohistochemistry assay in prostate cancer by comparison with PTEN FISH. Mod Pathol. 2016 08; 29(8):904-14.