Data Reports 2016

1 4 February
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly
2 3 March
Polymorphisms in the TMEM132D region are associated with panic disorder in HLA-DRB1*13:02-negative individuals of a Japanese population
3 3 March
A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1
4 3 March
Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz–Jeghers syndrome harboring genomic deletion of the STK11 gene
5 7 April
A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome
6 7 April
A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome
7 12 May
Detection of 1p36 deletion by clinical exome-first diagnostic approach
8 19 May A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity
9 19 May
A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene
10 26 May
Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy
11 7 July
Novel variation at chr11p13 associated with cystic fibrosis lung disease severity
12 14 July
Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5
13 4 August
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
14 15 September
A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly
15 15 September
A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome
16 6 October
KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation
17 6 October
Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I
18 13 October
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome
19 13 October
Distal arthrogryposis with variable clinical expression caused by TNNI2mutation
20 13 October
Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi–Behmel syndrome
21 10 November
Exome-first approach identified a novel gloss deletion associated with Lowe syndrome
22 17 November
Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
23 1 December
Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2
24 8 December
Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families