Data Reports 2015

1 09 January
Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer’s disease
2 12 February
A FRMD7 variant in a Japanese family causes congenital nystagmus
3 12 February
Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome
4 26 February
Truncating mutation in NFIA causes brain malformation and urinary tract defects
5 19 March
A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome
6 26 March
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
7 26 March
Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation
8 16 April
A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred
9 11 June
6q21–22 deletion syndrome with interrupted aortic arch
10 18 June
A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung
11 18 June
A novel MED12 mutation associated with non-specific X-linked intellectual disability
12 18 June
A novel ETFB mutation in a patient with glutaric aciduria type II
13 25 June
Prenatal genetic testing for familial severe congenital protein C deficiency
14 2 July
Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp
15 6 August
A deleterious MYH11 mutation causing familial thoracic aortic dissection
16 27 August
A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site
17 18 September
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome
18 17 September
A novel FOXC2 mutation in spinal extradural arachnoid cyst
19 17 September 
A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
20 17 September
An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population
21 1 October
Identification of novel exonic mobile element insertions in epithelial ovarian cancers
  29 October
A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency
22 5 November
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy
  12 November
Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease
23 12 November
A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome
  19 November
Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies
24 19 November
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy
25 26 November
Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy
26 26 November
iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing
27 3 December
Legius Syndrome: two novel mutations in the SPRED1 gene
28 3 December
A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings
29 10 December
Distribution of two OCA2 polymorphisms associated with pigmentation in East-Asian populations
30 10 December
A novel APC mosaicism in a patient with familial adenomatous polyposis
31 10 December
Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia