Gerarda Cappuccio to Genetic Association Studies
This is a "connection" page, showing publications Gerarda Cappuccio has written about Genetic Association Studies.
Connection Strength
0.811
-
A clinical and genotype-phenotype analysis of MACF1 variants. Am J Hum Genet. 2025 Oct 02; 112(10):2363-2380.
Score: 0.184
-
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: 0.170
-
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. Ann Clin Transl Neurol. 2020 01; 7(1):83-93.
Score: 0.123
-
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation. Am J Med Genet A. 2017 Oct; 173(10):2743-2746.
Score: 0.105
-
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review. Am J Med Genet A. 2014 Mar; 164A(3):753-9.
Score: 0.082
-
ZTTK syndrome: Clinical and molecular findings of?15 cases and a review of the literature. Am J Med Genet A. 2021 12; 185(12):3740-3753.
Score: 0.035
-
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun. 2020 10 01; 11(1):4932.
Score: 0.033
-
Rubinstein-Taybi syndrome in diverse populations. Am J Med Genet A. 2020 12; 182(12):2939-2950.
Score: 0.033
-
Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.030
-
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: 0.018