Long-read sequencing in deciphering human genetics to a greater depth Mohit K. MidhaMengchu WuKuo-Ping Chiu Review 19 September 2019 Pages: 1201 - 1215
CRISPR/Cas9 facilitates genomic editing for large-scale functional studies in pluripotent stem cell cultures Xiao-Fei LiYong-Wei ZhouQi-Ning Yang Review 12 October 2019 Pages: 1217 - 1225
Rare variants in FANCA induce premature ovarian insufficiency Xi YangXiaojin ZhangYanhua Wu Original Investigation Open access 18 September 2019 Pages: 1227 - 1236
Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia Richard MilneKatherine I. Morleyon behalf of the Participant Values Work Stream of the Global Alliance for Genomics and Health Original Investigation Open access 17 September 2019 Pages: 1237 - 1246
MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy Melissa H. BroeksHanan E. ShamseldinFowzan S. Alkuraya Original Investigation 19 September 2019 Pages: 1247 - 1257
Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder Volkan OkurKatrin WatschingerWendy K. Chung Original Investigation 25 September 2019 Pages: 1259 - 1266
Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis Dora Janeth FonsecaLuz Adriana CaroPaul Laissue Original Investigation 14 October 2019 Pages: 1267 - 1274
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus Stéphanie MoisanAnaïs Le NabecClaude Férec Original Investigation 04 October 2019 Pages: 1275 - 1286
Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks Marjut SalokannelHeta TarkkalaKaroliina Snell Original Investigation Open access 16 October 2019 Pages: 1287 - 1299
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype Przemyslaw SzafranskiQian LiuPaweł Stankiewicz Original Investigation 04 November 2019 Pages: 1301 - 1311
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair Alejandro HorgaCatherine E. WoodwardMichael G. Hanna Original Investigation Open access 31 October 2019 Pages: 1313 - 1322
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation Fernanda Gutierrez-RodriguesNohad MasriMarie Louise Coussa Original Investigation 01 November 2019 Pages: 1323 - 1330
Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses Antonella De LilloFlavio De AngelisRenato Polimanti Original Investigation 29 October 2019 Pages: 1331 - 1340
First genome-wide association study of non-severe malaria in two birth cohorts in Benin Jacqueline MiletAnne BolandHervé Perdry Original Investigation 30 October 2019 Pages: 1341 - 1357
The genetic landscape of the human solute carrier (SLC) transporter superfamily Lena SchallerVolker M. Lauschke Original Investigation Open access 02 November 2019 Pages: 1359 - 1377
Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma Shih-Chi SuLun-Ching ChangShun-Fa Yang Original Investigation 02 November 2019 Pages: 1379 - 1389
High-throughput transcriptome analysis reveals that the loss of Pten activates a novel NKX6-1/RASGRP1 regulatory module to rescue microphthalmia caused by Fgfr2-deficient lenses Stephanie L. PadulaDeepti AnandMichael L. Robinson Original Investigation 05 November 2019 Pages: 1391 - 1407
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD) Lorida LlaciKeri RamseySampathkumar Rangasamy Original Investigation 20 November 2019 Pages: 1409 - 1417
Arteriovenous malformation associated with a HRAS mutation Dennis J. KonczykJeremy A. GossArin K. Greene Short Communication 21 October 2019 Pages: 1419 - 1421