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Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes
(2019)
Background:
Intellectual disability (ID) is a complex condition that can impact multiple domains of development. The genetic contribution to ID’s etiology is significant, with more than 100 implicated genes and loci ...
Artificial intelligence for precision medicine in neurodevelopmental disorders
(2019)
Abstract: The ambition of precision medicine is to design and optimize the pathway for diagnosis, therapeutic intervention, and prognosis by using large multidimensional biological datasets that capture individual variability ...
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.
(2019-04-26)
Abstract:
De novo loss-of-function (LoF) variants in theKMT2Agene are associated with Wiedemann−Steiner Syndrome (WSS). Recently, de novo KMT2 Avariants have been identified in sequencing studies of cohorts of individuals ...
Antibody-drug conjugate T-DM1 treatment for HER2+ breast cancer induces ROR1 and confers resistance through activation of Hippo transcriptional coactivator YAP1
(2019-05-10)
Background:
A newly developed drug trastuzumab emtansine (T-DM1) has improved the survival of breast cancer (BC) patients. Despite an impressive initial clinical response, a subgroup of patient develop resistance and ...