Publications
Filters: Author is Pinelli, Michele [Clear All Filters]
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 ;9(1):18.
. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 ;105(2):302-316.
. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 ;110(5):790-808.
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