CHRISTOPHER GROCHOWSKI to Alagille Syndrome
This is a "connection" page, showing publications CHRISTOPHER GROCHOWSKI has written about Alagille Syndrome.
Connection Strength
1.238
-
Jagged1 (JAG1): Structure, expression, and disease associations. Gene. 2016 Jan 15; 576(1 Pt 3):381-4.
Score: 0.489
-
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. Am J Med Genet A. 2015 Apr; 167A(4):891-3.
Score: 0.467
-
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat. 2019 12; 40(12):2197-2220.
Score: 0.159
-
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors. Am J Med Genet A. 2016 Feb; 170A(2):471-475.
Score: 0.122