Gerarda Cappuccio to Pedigree
This is a "connection" page, showing publications Gerarda Cappuccio has written about Pedigree.
Connection Strength
0.405
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Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Hum Mutat. 2021 06; 42(6):745-761.
Score: 0.145
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Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. Neurology. 2014 Jul 15; 83(3):e41-4.
Score: 0.091
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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: 0.036
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An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Hum Mol Genet. 2020 08 03; 29(13):2250-2260.
Score: 0.034
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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome. Clin Genet. 2020 08; 98(2):172-178.
Score: 0.034
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 10 03; 105(4):689-705.
Score: 0.032
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.032