Mary-Alice Abbott to Pedigree
This is a "connection" page, showing publications Mary-Alice Abbott has written about Pedigree.
Connection Strength
0.155
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Abbott MA, Nathanson KL, Nightingale S, Maher ER, Greenstein RM. The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. Am J Med Genet A. 2006 Apr 01; 140(7):685-90.
Score: 0.058
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Chacon-Millan P, Delicato A, Mahmood A, Tirozzi A, Monfregola J, Duroure K, Serafini M, Kroll F, El-Hage O, Salah S, Atawneh OM, Atik T, Durmusalioglu EA, Isik E, Almontashiri NAM, Tabarki B, Kanaan M, Rabie G, Torella A, Spampanato C, Battaglia DI, Begemann A, Steindl K, Rauch A, Zweier M, Hajianpour M, Brigatti KW, Alhashem A, Maroofian R, Feigerlova E, Lambert L, Feillet F, Abbott MA, D'Alessio AM, Gonzaga-Jauregui C, Tawk M, De Matteis MA, Del Bene F, Zollino M, Nigro V, Venditti R, Franco B, Morleo M. Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking. Am J Hum Genet. 2026 Mar 05; 113(3):562-581.
Score: 0.057
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Morava E, Schatz UA, Torring PM, Abbott MA, Baumann M, Brasch-Andersen C, Chevalier N, Dunkhase-Heinl U, Fleger M, Haack TB, Nelson S, Potelle S, Radenkovic S, Bommer GT, Van Schaftingen E, Veiga-da-Cunha M. Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. Am J Hum Genet. 2021 06 03; 108(6):1151-1160.
Score: 0.041