Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate Elizabeth J. LeslieJenna C. CarlsonMary L. Marazita Original Investigation 04 January 2017 Pages: 275 - 286
Association of AHSG with alopecia and mental retardation (APMR) syndrome M. Reza SailaniFereshteh JahanbaniMichael P. Snyder Original Investigation 04 January 2017 Pages: 287 - 296
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype Nuria C. BramswigO. CaluseriuD. Wieczorek Original Investigation 25 January 2017 Pages: 297 - 305
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes Ilaria ParentiMaría E. Teresa-RodrigoFrank J. Kaiser Original Investigation 24 January 2017 Pages: 307 - 320
Novel FAM134B mutations and their clinicopathological significance in colorectal cancer Farhadul IslamVinod GopalanAlfred K.-Y. Lam Original Investigation 31 January 2017 Pages: 321 - 337
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies Maja HempelTeresa Casar TenaDavor Lessel Original Investigation 08 February 2017 Pages: 339 - 346
Erratum to: IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability Larissa Lazzarini FurlanFernando Augusto Lima MarsonDorotéia Rossi Silva Souza Erratum 03 February 2017 Pages: 347 - 348