1. Long-read sequencing in deciphering human genetics to a greater depth

   • Mohit K. Midha
   • Mengchu Wu
   • Kuo-Ping Chiu

   Review 19 September 2019 Pages: 1201 - 1215

   

2. CRISPR/Cas9 facilitates genomic editing for large-scale functional studies in pluripotent stem cell cultures

   • Xiao-Fei Li
   • Yong-Wei Zhou
   • Qi-Ning Yang

   Review 12 October 2019 Pages: 1217 - 1225

   

3. Rare variants in FANCA induce premature ovarian insufficiency

   • Xi Yang
   • Xiaojin Zhang
   • Yanhua Wu

   Original Investigation Open access 18 September 2019 Pages: 1227 - 1236

   

4. Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia

   • Richard Milne
   • Katherine I. Morley
   • on 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

   

5. MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy

   • Melissa H. Broeks
   • Hanan E. Shamseldin
   • Fowzan S. Alkuraya

   Original Investigation 19 September 2019 Pages: 1247 - 1257

   

6. Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder

   • Volkan Okur
   • Katrin Watschinger
   • Wendy K. Chung

   Original Investigation 25 September 2019 Pages: 1259 - 1266

   

7. Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis

   • Dora Janeth Fonseca
   • Luz Adriana Caro
   • Paul Laissue

   Original Investigation 14 October 2019 Pages: 1267 - 1274

   

8. Characterization of GJB2 cis-regulatory elements in the DFNB1 locus

   • Stéphanie Moisan
   • Anaïs Le Nabec
   • Claude Férec

   Original Investigation 04 October 2019 Pages: 1275 - 1286

   

9. Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks

   • Marjut Salokannel
   • Heta Tarkkala
   • Karoliina Snell

   Original Investigation Open access 16 October 2019 Pages: 1287 - 1299

10. Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

    • Przemyslaw Szafranski
    • Qian Liu
    • Paweł Stankiewicz

    Original Investigation 04 November 2019 Pages: 1301 - 1311

    

11. Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

    • Alejandro Horga
    • Catherine E. Woodward
    • Michael G. Hanna

    Original Investigation Open access 31 October 2019 Pages: 1313 - 1322

    

12. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation

    • Fernanda Gutierrez-Rodrigues
    • Nohad Masri
    • Marie Louise Coussa

    Original Investigation 01 November 2019 Pages: 1323 - 1330

    

13. 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 Lillo
    • Flavio De Angelis
    • Renato Polimanti

    Original Investigation 29 October 2019 Pages: 1331 - 1340

    

14. First genome-wide association study of non-severe malaria in two birth cohorts in Benin

    • Jacqueline Milet
    • Anne Boland
    • Hervé Perdry

    Original Investigation 30 October 2019 Pages: 1341 - 1357

    

15. The genetic landscape of the human solute carrier (SLC) transporter superfamily

    • Lena Schaller
    • Volker M. Lauschke

    Original Investigation Open access 02 November 2019 Pages: 1359 - 1377

    

16. Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma

    • Shih-Chi Su
    • Lun-Ching Chang
    • Shun-Fa Yang

    Original Investigation 02 November 2019 Pages: 1379 - 1389

    

17. 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. Padula
    • Deepti Anand
    • Michael L. Robinson

    Original Investigation 05 November 2019 Pages: 1391 - 1407

    

18. Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)

    • Lorida Llaci
    • Keri Ramsey
    • Sampathkumar Rangasamy

    Original Investigation 20 November 2019 Pages: 1409 - 1417

    

19. Arteriovenous malformation associated with a HRAS mutation

    • Dennis J. Konczyk
    • Jeremy A. Goss
    • Arin K. Greene

    Short Communication 21 October 2019 Pages: 1419 - 1421