8 January 2019 | An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia
| Rawlins, LE; Jones, H; Wenger, O; et al. |
23 August 2018 | Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia
| Laver, TW; Wakeling, M; Hua, JHY; et al. |
4 February 2019 | Copy number variation of LINGO1 in familial dystonic tremor
| Alakbarzade, V; Iype, T; Chioza, BA; et al. |
26 January 2021 | Loss of MANF causes childhood onset syndromic diabetes due to increased endoplasmic reticulum stress
| Montaser, H; Patel, KA; Balboa, D; et al. |
16 January 2018 | MAFA missense mutation causes familial insulinomatosis and diabetes mellitus
| Iacovazzo, D; Flanagan, S; Walker, E; et al. |
16 January 2018 | MAFA missense mutation causes familial insulinomatosis and diabetes mellitus
| Iacovazzo, D; Flanagan, S; Walker, E; et al. |
27 December 2019 | De novo mutations in EIF2B1 affecting eIF2 signaling cause neonatal/early onset diabetes and transient hepatic dysfunction
| De Franco, E; Caswell, R; Johnson, M; et al. |
9 November 2020 | YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
| De Franco, E; Lytrivi, M; Ibrahim, H; et al. |