18 July 2022 | A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly
| De Franco, E; Wakeling, MN; Frew, RD; et al. |
2 February 2022 | Evaluation of Evidence for Pathogenicity Demonstrates that BLK, KLF11 and PAX4 Should not be Included in Diagnostic Testing for MODY
| Laver, TW; Wakeling, MN; Knox, O; et al. |
3 October 2018 | Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
| Wakeling, MN; Laver, TW; Wright, CF; et al. |
9 January 2020 | Misannotation of multiple-nucleotide variants risks misdiagnosis
| Wakeling, MN; Laver, TW; Colclough, K; et al. |
4 August 2020 | Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome
| Banerjee, I; Senniappan, S; Laver, TW; et al. |
16 March 2022 | SavvyCNV: Genome-wide CNV calling from off-target reads
| Laver, TW; De Franco, E; Johnson, MB; et al. |
8 April 2019 | Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated
| Johnson, MBJ; De Franco, E; Atma W Greeley, S; et al. |
5 July 2019 | Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of < 5 years in the Iranian population
| Yaghootkar, H; Abbasi, F; Ghaemi, N; et al. |