Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review. - Pacot, Laurence; Girish, Milind; Knight, Samantha; Spurlock, Gill; Varghese, Vinod; Ye, Manuela; Thomas, Nick; Pasmant, Eric; Upadhyaya, Meena (BMC Medical Genomics, 2024)