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  • A Bayesian Approach for Analysis of Whole-Genome Bisulphite Sequencing Data Identifies Disease-Associated Changes in DNA Methylation 

    Rackham, OJL; Langley, SR; Oates, T; Vradi, E; Harmston, N; Srivastava, PK; Behmoaras, J et al.
    DNA methylation is a key epigenetic modification involved in gene regulation whose contribution to disease susceptibility remains to be fully understood. Here, we present a novel Bayesian smoothing approach (called ABBA) ...
  • Nomenclature and definition in asymmetric regional body overgrowth 

    Kalish, JM; Biesecker, LG; Brioude, F; Deardorff, MA; Di Cesare-Merlone, A; Druley, T; Ferrero, GB et al. (Wiley-Liss Inc, 2017-05-05)
    We designate a novel term "isolated lateralized overgrowth" (ILO) for the findings previously described as "isolated hemihypertrophy" and "isolated hemihyperplasia." ILO is defined as lateralized overgrowth in the absence ...
  • PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. 

    Hall, EA; Nahorski, MS; Murray, LM; Shaheen, R; Perkins, E; Dissanayake, KN; Kristaryanto, Y et al. (Elsevier, 2017-05-04)
    During neurotransmission, synaptic vesicles undergo multiple rounds of exo-endocytosis, involving recycling and/or degradation of synaptic proteins. While ubiquitin signaling at synapses is essential for neural function, ...
  • SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity 

    Casey, RT; Ascher, DB; Rattenberry, E; Izatt, L; Andrews, KA; Simpson, HL; Challis, B et al.
    Purpose To evaluate the role of germline SDHA mutation analysis by (1) comprehensive literature review, (2) description of novel germline SDHA mutations and (3) in silico structural prediction analysis of missense ...

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