Mosaic loss of human Y chromosome: what, how and why Xihan GuoXueqin DaiXu Wang Review 04 February 2020 Pages: 421 - 446
Low-density lipoprotein receptor-related protein 6-mediated signaling pathways and associated cardiovascular diseases: diagnostic and therapeutic opportunities Sheng Kang Review 19 February 2020 Pages: 447 - 459
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis Pauline ArnaudCaroline RacineLaurence Faivre Original Investigation 24 January 2020 Pages: 461 - 472
Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China Huijun WangYulan LuWenhao Zhou Original Investigation 21 January 2020 Pages: 473 - 482
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies Ivana LesselMei-Jan ChenDavor Lessel Original Investigation Open access 13 February 2020 Pages: 483 - 498
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth Yu AnLinna ZhangYiping Shen Original Investigation 24 January 2020 Pages: 499 - 512
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans Mohammed Zain SeidahmedAdila Al-KindiFowzan S. Alkuraya Original Investigation 20 January 2020 Pages: 513 - 519
Concurrent hearing and genetic screening in a general newborn population Ling GuoJiale XiangZhiyu Peng Original Investigation 30 January 2020 Pages: 521 - 530
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape Dezső DavidJoão P. FreixoCynthia C. Morton Original Investigation 06 February 2020 Pages: 531 - 543
Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain Dazhi ZhangChao YuanXianqin Zhang Original Investigation 04 February 2020 Pages: 545 - 555