학술논문
'학술논문'
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Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing
Academic Journal
Chen, E.; Facio, F.M.; Aradhya, K.W.; Rojahn, S.; Hatchell, K.E.; Aguilar, S.; Ouyang, K.; McKnight, D.; Johnson, B.; Aradhya, S.; Saitta, S.; Hanson-Kwan, A.K.; Capurro, N.N.; Takamine, E.; Jamuar, S.S.
In: JAMA Network Open . (JAMA Network Open, 25 October 2023, 6(10):E2339571)
Academic Journal
Tenney, A.P.; Di Gioia, S.A.; Chan, W.-M.; Garnai, S.J.; Barry, B.J.; Ray, T.; Collins, T.E.; Gelber, A.; Pratt, B.M.; Torres, A.; Engle, E.C.; Whitman, M.C.; Webb, B.D.; Zhang, Z.; Warburton, P.E.; Jabs, E.W.; Orkin, S.H.; de Boer, E.; Kleefstra, T.; Vissers, L.E.L.M.; van Bokhoven, H.; Kosicki, M.; Pennacchio, L.A.; Robson, C.D.; Fujiwara, Y.; Varshney, A.; Parker, S.C.J.; Lek, M.; Van Ryzin, C.; Manoli, I.; Lehky, T.J.; Zalewski, C.; King, K.A.; Brewer, C.C.; Thurm, A.; Snow, J.; Facio, F.M.; Narisu, N.; Bonnycastle, L.L.; Swift, A.; Chines, P.S.; Collins, F.S.; Bell, J.L.; Mohan, S.; Hadlock, T.A.; Staffieri, S.E.; Elder, J.E.; Demer, J.L.; Rachid, E.; Al-Haddad, C.; Boustany, R.-M.; Mackey, D.A.; Brady, A.F.; Fenollar-Cortés, M.; Fradin, M.; Padberg, G.W.; Raskin, S.; Sato, M.T.
In: Nature Genetics . (Nature Genetics, July 2023, 55(7):1149-1163)
Academic Journal
In Value in Health June 2023 26(6) Supplement:S46-S46
Academic Journal
Whitman, M.C.; MacKinnon, S.; Hunter, D.G.; Barry, B.J.; Chan, W.-M.; Engle, E.C.; Robson, C.D.; Facio, F.M.; Van Ryzin, C.; Lee, P.R.; Collins, F.S.; Manoli, I.; Lehky, T.J.; Thurm, A.; Zalewski, C.; King, K.A.; Brewer, C.; Almpani, K.; Lee, J.S.; Webb, B.D.; Delaney, A.; FitzGibbon, E.J.; Toro, C.; Paul, S.M.; Abdul-Rahman, O.A.; Jabs, E.W.; Moller, H.U.; Larsen, D.A.; Antony, J.H.; Troedson, C.; Ma, A.; Ragnhild, G.; Wirgenes, K.V.; Tham, E.; Kvarnung, M.; Maarup, T.J.
In: Human Genetics . (Human Genetics, December 2021, 140(12):1709-1731)
Academic Journal
Aradhya, S.; Facio, F.M.; Metz, H.; Manders, T.; Colavin, A.; Kobayashi, Y.; Nykamp, K.; Johnson, B.; Nussbaum, R.L.
In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics . (American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, September 2023, 193(3))
Academic Journal
Lehky, T.; Joseph, R.; Toro, C.; Wu, T.; Van Ryzin, C.; Facio, F.M.; Manoli, I.; Gropman, A.; Webb, B.D.; Jabs, E.W.; Barry, B.S.; Engle, E.C.; Collins, F.S.
In: Muscle and Nerve . (Muscle and Nerve, April 2021, 63(4):516-524)
Academic Journal
In: Genetics in Medicine . (Genetics in Medicine, December 2021, 23(12):2260-2269)
Academic Journal
In: Journal of Genetic Counseling , Next Generation Genetic Counseling. (Journal of Genetic Counseling, August 2014, 23(4):455-462)
Academic Journal
Facio, F.M.; Eidem, H.; Fisher, T.; Brooks, S.; Linn, A.; Biesecker, L.G.; Biesecker, B.B.; Kaphingst, K.A.
In: European Journal of Human Genetics . (European Journal of Human Genetics, March 2013, 21(3):261-265)
Academic Journal
Kaphingst, K.A.; Cheng, M.-R.; Facio, F.M.; Brooks, S.; Eidem, H.; Biesecker, B.B.; Biesecker, L.G.; Linn, A.
In: Clinical Genetics . (Clinical Genetics, November 2012, 82(5):408-415)
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제한된 항목
[AR] Facio, F.M.
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