Neumann ML, Kakani S, Ladner A. Quality of life from childhood to adulthood: perspectives from adult patients with pediatric-onset intestinal failure. J Pediatr Gastroenterol Nutr. 2024 Jul 16. doi: 10.1002/jpn3.12322
Newsome JR, Venkatramani R, Heczey A, Danysh HE, Fishman DS, Miloh T. Cholangiocarcinoma among children and adolescents: a review of the literature and SEER-Database analysis. J Pediatr Gastroenterol Nutr. 2018 Jan 1;66(1):e12-8. doi: 10.1097/MPG.0000000000001749
Hartman EE, Pawaskar M, Williams V, McLeod L, Dubois D, Benninga MA, Joseph A. Psychometric properties of PedsQL generic core scales for children with functional constipation in the Netherlands. J Pediatr Gastroenterol Nutr. 2014 Dec;59(6):739-47. doi: 10.1097/MPG.0000000000000527
Ball EV, Stenson PD, Abeysinghe SS, Krawczak M, Cooper DN, Chuzhanova NA. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat. 2005 Sep;26(3):205-13. doi: 10.1002/humu.20212
Abeysinghe SS, Stenson PD PD, Krawczak M, Cooper DN DN. Gross Rearrangement Breakpoint Database (GRABDTM). Hum Mutat. 2004;23(3):219-21.
Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN. Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs. Hum Mutat. 2003 Sep;22(3):229-44.
Chuzhanova N, Abeysinghe SS, Krawczak M, Cooper DN. Translocation and gross deletion breakpoints in human inherited disease and cancer II: potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Hum Mutat. 2003 Sep;22(3):245-51.
Stenson P, Ball EV, Mort M, Phillips A, Shiel J, Thomas N, Abeysinghe SS. Human Gene Mutation Database (HGMD). Hum Mutat. 2003;(21):577-81.
Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe SS, Thomas N, Cooper DN. Human gene mutation database-a biomedical information and research resource. Hum Mutat. 2000;15(1):45-51.