DARYL SCOTT to Haploinsufficiency
This is a "connection" page, showing publications DARYL SCOTT has written about Haploinsufficiency.
Connection Strength
1.094
-
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 07; 179(7):1376-1382.
Score: 0.545
-
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470.
Score: 0.165
-
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Am J Med Genet A. 2021 03; 185(3):836-840.
Score: 0.153
-
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet. 2016 May 05; 98(5):963-970.
Score: 0.110
-
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.
Score: 0.040
-
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112.
Score: 0.038
-
Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3. PLoS One. 2013; 8(3):e58830.
Score: 0.022
-
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Hum Mol Genet. 2012 Sep 15; 21(18):4115-25.
Score: 0.021