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About:hqqu

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Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.

Posts by hqqu :

  • Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 (Contributed by Lottie Morison), Posted on November 4, 2022 by hqqu in Uncategorized
  • The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2 (Contributed by Sue Philpott), Posted on November 2, 2022 by hqqu in Uncategorized
  • New insights into CC2D2A-related Joubert syndrome (Contributed by Madeleine Harion), Posted on November 2, 2022 by hqqu in Uncategorized
  • Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. Pierron, et al. (Contributed by Lucie Pierron, Marcela Gargiulo and Alexandra Durr), Posted on October 30, 2022 by hqqu in Uncategorized
  • GERMLINE MUTATIONS IN WNK2 COULD BE ASSOCIATED WITH SERRATED POLYPOSIS SYNDROME, Soares de Lima et al. (Contributed by Dr. Sergi Castellví-Bel), Posted on October 30, 2022 by hqqu in Uncategorized
  • The clinical, neuroimaging, and molecular characteristics of PPP2R5D related neurodevelopmental disorders: an expanded series with functional characterization and genotype-phenotype correlation (Contributed by Nora M Oyama, Pieter Vaneynde, Sara Reynhout, Emily C Pao, Andrew Timms, Xiao Fan, Kimberly Foss, Rita Derua, Veerle Janssens, Wendy K Chung and Ghayda M Mirzaa), Posted on October 11, 2022 by hqqu in Uncategorized
  • Identifying the molecular drivers of ALS-implicated missense mutations (Contributed by Dr. David Ascher), Posted on October 3, 2022 by hqqu in Uncategorized
  • Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study (Contributed by Xin Yang), Posted on September 27, 2022 by hqqu in Uncategorized
  • Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence (Contributed by Dr. Antonis Antoniou), Posted on September 27, 2022 by hqqu in Uncategorized
  • Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases (Contributed by Dr. Inge M M Lakeman), Posted on September 23, 2022 by hqqu in Uncategorized
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