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  1. Article

    Open Access

    Clinical associations with a polygenic predisposition to benign lower white blood cell counts

    Polygenic variation unrelated to disease contributes to interindividual variation in baseline white blood cell (WBC) counts, but its clinical significance is uncharacterized. We investigated the clinical conse...

    Jonathan D. Mosley, John P. Shelley, Alyson L. Dickson in Nature Communications (2024)

  2. Article

    Open Access

    Genome-wide association study between copy number variation and feeding behavior, feed efficiency, and growth traits in Nellore cattle

    Feeding costs represent the largest expenditures in beef production. Therefore, the animal efficiency in converting feed in high-quality protein for human consumption plays a major role in the environmental im...

    Lorena F. Benfica, Luiz F. Brito, Ricardo D. do Bem, Henrique A. Mulim in BMC Genomics (2024)

  3. Article

    Open Access

    Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development

    Children with birth defects (BD) express distinct clinical features that often have various medical consequences, one of which is predisposition to the development of cancers. Identification of the underlying ...

    Yichuan Liu, Hui-Qi Qu, **ao Chang, Frank D Mentch, Haijun Qiu in Molecular Cancer (2023)

  4. Article

    Open Access

    Metabolomic profiling for dyslipidemia in pediatric patients with sickle cell disease, on behalf of the IHCC consortium

    Previous study has shown that dyslipidemia is common in patients with Sickle cell disease (SCD) and is associated with more serious SCD complications.

    Hui-Qi Qu, Joseph Glessner, **gchun Qu, Frank Mentch, Ian Campbell in Metabolomics (2022)

  5. Article

    Open Access

    Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing

    Children with birth defects (BD) are more likely to develop cancer and the increased risk of cancer persists into adulthood. Prior population-based assessments have demonstrated that even non-chromosomal BDs a...

    Yichuan Liu, Hui-Qi Qu, **ao Chang, Frank D Mentch, Haijun Qiu in Biomarker Research (2022)

  6. Article

    Open Access

    Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population

    Asthma is a complex condition largely attributed to the interactions among genes and environments as a heterogeneous phenotype. Obesity is significantly associated with asthma development, and genetic studies ...

    Yichuan Liu, Hui-Qi Qu, **gchun Qu, **ao Chang, Frank D. Mentch in Respiratory Research (2022)

  7. Article

    Open Access

    Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients

    Mental disorders present a global health concern, while the diagnosis of mental disorders can be challenging. The diagnosis is even harder for patients who have more than one type of mental disorder, especiall...

    Yichuan Liu, Hui-Qi Qu, Frank D. Mentch, **gchun Qu, **ao Chang in Molecular Psychiatry (2022)

  8. Article

    Open Access

    Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci

    Type 1 diabetes (T1D) patients with low genetic risk scores (GRS) may be non-autoimmune or autoimmune mediated by other genetic loci. The T1D-GRS2 provides us an opportunity to look into the genetic architectu...

    Hui-Qi Qu, **gchun Qu, Jonathan Bradfield, Luc Marchand in Communications Biology (2021)

  9. Article

    Open Access

    Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans

    Although mitochondrial dysfunction has been implicated in the pathophysiology of attention deficit and hyperactivity disorder ADHD, the role of mitochondrial DNA (mtDNA) has not been extensively investigated. ...

    **ao Chang, Yichuan Liu, Frank Mentch, Joseph Glessner in Translational Psychiatry (2020)

  10. Article

    Open Access

    Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children

    Previous studies of attention-deficit hyperactivity disorder (ADHD) have suggested that structural variants (SVs) play an important role but these were mainly studied in subjects of European ancestry and focus...

    Yichuan Liu, **ao Chang, Huiqi Qu, Joseph Glessner, Lifeng Tian in Scientific Reports (2020)

  11. Article

    Open Access

    Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk

    MYCN amplification and 11q deletion are two inversely correlated prognostic factors of poor outcome in neuroblastoma. Here we identify common variants at 11q22.2 within MMP20 that associa...

    **ao Chang, Yan Zhao, Cui** Hou, Joseph Glessner, Lee McDaniel in Nature Communications (2017)

  12. Article

    Open Access

    Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

    Yichuan Liu, Yun Li, Michael E. March, Kenny Nguyen, Kexiang Xu in Human Genomics (2016)

  13. Article

    Open Access

    Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children

    Magnesium ions are essential to the basic metabolic processes in the human body. Previous genetic studies indicate that serum magnesium levels are highly heritable and a few genetic loci have been reported inv...

    **ao Chang, Joseph Glessner, Adrienne Tin, ** Li, Yiran Guo, Zhi Wei in Scientific Reports (2015)

  14. Article

    Open Access

    Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

    Absence of the anterior (ACL) or posterior cruciate ligament (PCL) are rare congenital malformations that result in knee joint instability, with a prevalence of 1.7 per 100,000 live births and can be associate...

    Yichuan Liu, Yun Li, Michael E. March, Kenny Nguyen, Kexiang Xu in Human Genomics (2015)

  15. No Access

    Article

    Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

    Common variable immunodeficiency disorder (CVID) is the most common symptomatic primary immunodeficiency in adults, characterized by B-cell abnormalities and inadequate antibody response. CVID patients have co...

    ** Li, Silje F. Jørgensen, S Melkorka Maggadottir, Marina Bakay in Nature Communications (2015)

  16. Article

    Open Access

    The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

    Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules ...

    Dexter Hadley, Zhi-liang Wu, Charlly Kao, Akshata Kini in Nature Communications (2014)

  17. Article

    Open Access

    GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus

    We carried out a GWAS meta-analysis of combined mixed-ancestry schizophrenia, schizoaffective, and bipolar cohorts that resulted in the identification of six genome-wide significant loci, including one novel l...

    Patrick Sleiman, Dai Wang, Joseph Glessner, Dexter Hadley in Scientific Reports (2013)

  18. No Access

    Article

    De novo mutations in histone-modifying genes in congenital heart disease

    Exome sequencing of patients with congenital heart disease (CHD) and their unaffected parents reveals an excess of strong-effect, protein-altering de novo mutations in genes expressed in the develo** heart, man...

    Samir Zaidi, Murim Choi, Hiroko Wakimoto, Lijiang Ma, Jianming Jiang in Nature (2013)

  19. No Access

    Article

    The landscape of recombination in African Americans

    Recombination, together with mutation, gives rise to genetic variation in populations. Here we leverage the recent mixture of people of African and European ancestry in the Americas to build a genetic map meas...

    Anjali G. Hinch, Arti Tandon, Nick Patterson, Yunli Song, Nadin Rohland in Nature (2011)

  20. No Access

    Article

    Integrative genomics identifies LMO1 as a neuroblastoma oncogene

    A genome-wide association study (GWAS) has shown that single nucleotide variants within the LMO1 locus are associated with inherited susceptibility to neuroblastoma, a childhood cancer of the sympathetic nervous ...

    Kai Wang, Sharon J. Diskin, Haitao Zhang, Edward F. Attiyeh, Cynthia Winter in Nature (2011)

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