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Open AccessClinical 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...
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Open AccessGenome-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...
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Open AccessGenomic 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 ...
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Open AccessMetabolomic 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.
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Article
Open AccessIdentification 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...
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Open AccessBurden 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 ...
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Article
Open AccessApplication 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...
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Open AccessGenetic 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...
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Open AccessMitochondrial 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. ...
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Open AccessNon-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...
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Open AccessCommon 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...
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Open AccessErratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments
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Open AccessGenome-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...
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Open AccessCopy 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...
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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...
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Open AccessThe 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 ...
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Open AccessGWAS 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...
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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...
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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...
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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 ...