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Human Genomics

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1. Content Type:Primary Research

     |  16 April 2019

   Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

   Authors:Rossella Spataro, Maria Kousi, Sali M. K. Farhan, Jason R. Willer, Jay P. Ross, Patrick A. Dion, Guy A. Rouleau, Mark J. Daly, Benjamin M. Neale, Vincenzo La Bella and Nicholas Katsanis
2. Content Type:Primary Research

     |  11 April 2019

   The significance of trisomy 7 mosaicism in noninvasive prenatal screening

   Authors:Yiming Qi, Jiexia Yang, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, Qianyi Du and Aihua Yin
3. Content Type:Primary Research

     |  4 April 2019

   Shared genetic underpinnings of childhood obesity and adult cardiometabolic diseases

   Authors:Fasil Tekola-Ayele, Anthony Lee, Tsegaselassie Workalemahu and Katy Sánchez-Pozos
4. Content Type:Primary Research

     |  20 March 2019

   Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration

   Authors:Madhu Sudhana Saddala, Anton Lennikov, Anthony Mukwaya, Lijuan Fan, Zhengmao Hu and Hu Huang
5. Content Type:Primary Research

     |  12 March 2019

   Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies

   Authors:Hua Hu, Li Wang, Jiayan Wu, Peng Zhou, Jingli Fu, Jiuchen Sun, Weiyi Cai, Hailiang Liu and Ying Yang