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. |
4 February 2019 | Copy number variation of LINGO1 in familial dystonic tremor
| Alakbarzade, V; Iype, T; Chioza, BA; et al. |
30 November 2021 | Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
| Fasham, J; Lin, S; Ghosh, P; et al. |
3 June 2019 | Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
| Jeffries, AR; Maroofian, R; Salter, CG; et al. |
20 February 2018 | Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report
| Ullah, MI; Nasir, A; Ahmad, A; et al. |
10 November 2015 | A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations
| Iype, T; Alakbarzade, V; Iype, M; et al. |
29 August 2018 | Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
| Li, L; Jiao, X; D'Atri, I; et al. |
3 January 2017 | A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis
| Ahmed, MY; Al-Khayat, A; Al-Murshedi, F; et al. |
12 January 2017 | Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
| Muggenthaler, MMA; Chowdhury, B; Hasan, SN; et al. |
16 November 2016 | Novel homozygous missense mutation in GAN associated with Charcot-Marie-Toothdisease type 2 in a large consanguineousfamily from Israel
| Aharoni, S; Barwick, KES; Harlalka, GV; et al. |
14 December 2016 | A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report
| Dehghan Tezerjani, M; Maroofian, R; Vahidi Mehrjardi, MY; et al. |
28 February 2017 | PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment
| Zollo, M; Ahmed, M; Ferrucci, V; et al. |
12 June 2015 | Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
| Jinks, RN; Puffenberger, EG; Baple, Emma Louise; et al. |
3 March 2018 | Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
| Salter, CG; Beijer, D; Hardy, H; et al. |