Gerarda Cappuccio to Haploinsufficiency
This is a "connection" page, showing publications Gerarda Cappuccio has written about Haploinsufficiency.
Connection Strength
0.209
-
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. Am J Hum Genet. 2024 Aug 08; 111(8):1605-1625.
Score: 0.052
-
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants. Am J Med Genet A. 2024 Nov; 194(11):e63713.
Score: 0.052
-
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150.
Score: 0.042
-
Rare and de novo coding variants in chromodomain genes in Chiari I malformation. Am J Hum Genet. 2021 01 07; 108(1):100-114.
Score: 0.041
-
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region. Am J Med Genet A. 2012 Apr; 158A(4):832-5.
Score: 0.022