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Human Genetics
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Volume 138, July 2019, Issue 7, Pages 691-791
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1. Mind the gap: resources required to receive, process and interpret research-returned whole genome data
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Tác giả
Dana C. Crawford, Jessica N. Cooke Bailey, Farren B. S. Briggs.
2. Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
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Tác giả
Emeline Renard, Céline Chéry, Abderrahim Oussalah, Thomas Josse.
3. Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution
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Tác giả
Ian T. Fiddes, Alex A. Pollen, Jonathan M. Davis, James M. Sikela.
4. A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus
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Tác giả
Denis Plotnikov, Rupal L. Shah, Jamille N. Rodrigues.
5. Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information
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Francesca Graziano, Ginevra Biino, Maria Teresa Bonati, Benjamin M. Neale.
6. Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy
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Hongliang Xu, Tuo Ji, Yajun Lian, Shuya Wang, Xin Chen, Shuang Li.
7. Misassembly of long reads undermines de novo-assembled ethnicity-specific genomes: validation in a Chinese Han population
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Zhibiao Mai, Wanting Liu, Wen Ding, Gong Zhang.
8. Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer
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Yanrong Zhu, Huiting Deng, Xiangfa Chen, Hui Li, Cheng Yang, Shuo Li.
9. Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development
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Tác giả
Sarah Smithson.
10. Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer
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Tác giả
Stephanie A. Bien, Yu-Ru Su, David V. Conti, Tabitha A. Harrison.
