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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 :

  • Expanding the phenotype of SPARC-related Osteogenesis Imperfecta: Clinical findings in two patients with pathogenic variants in SPARC and literature review (Contributed by Dr Meena Balasubramanian), Posted on September 2, 2021 by hqqu in Uncategorized
  • Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis (Contributed by Dr Maria J Nabais Sá), Posted on August 30, 2021 by hqqu in Uncategorized
  • ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity (Contributed by Antonella Casella), Posted on August 9, 2021 by hqqu in Uncategorized
  • Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice (Contributed by Prof. Feng Zhang), Posted on August 9, 2021 by hqqu in Uncategorized
  • Diagnostic Yield of Chromosomal Microarray and Trio Whole-Exome Sequencing in Cryptogenic Cerebral Palsy (Contributed by Dr. Reeval Segel), Posted on August 1, 2021 by hqqu in Uncategorized
  • Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS) (Contributed by Elle Martin), Posted on August 1, 2021 by hqqu in Uncategorized
  • Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders (Contributed by Dr. Isabelle Schrauwen), Posted on August 1, 2021 by hqqu in Uncategorized
  • O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum (Contributed by Dr. med. Florian Erger), Posted on August 1, 2021 by hqqu in Uncategorized
  • Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series (Contributed by Dr. Nattaporn Tassanakijpanich), Posted on July 4, 2021 by hqqu in Uncategorized
  • Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population (Contributed by Dr. San Ming Wang), Posted on June 27, 2021 by hqqu in Uncategorized
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