A novel heterotaxy gene: Expansion of the phenotype of TTC21B‐spectrum disease

por Strong, Alanna, Li, Dong, Mentch, Frank, Hakonarson, Hakon
Publicado 2021

Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts

por Sleiman, Patrick, Bradfield, Jonathan, Mentch, Frank, Almoguera, Berta, Connolly, John, Hakonarson, Hakon
Publicado 2014

HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions

por Kelchtermans, Jelte, Chang, Xiao, March, Michael E., Mentch, Frank, Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado 2021

Genetic Variation in Genes Encoding Airway Epithelial Potassium Channels Is Associated with Chronic Rhinosinusitis in a Pediatric Population

por Purkey, Michael T., Li, Jin, Mentch, Frank, Grant, Struan F. A., Desrosiers, Martin, Hakonarson, Hakon, Toskala, Elina
Publicado 2014

An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities

por Slaby, Isabella, Hain, Heather S., Abrams, Debra, Mentch, Frank D., Glessner, Joseph T., Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado 2022

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

por Chang, Xiao, Liu, Yichuan, Mentch, Frank, Glessner, Joseph, Qu, Huiqi, Nguyen, Kenny, Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado 2020

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

por Qu, Hui-Qi, Glessner, Joseph, Qu, Jingchun, Mentch, Frank, Campbell, Ian, Sleiman, Patrick, Connolly, John J, Hakonarson, Hakon
Publicado 2022

COVID-19 in pediatrics: Genetic susceptibility

por Glessner, Joseph T., Chang, Xiao, Mentch, Frank, Qu, Huiqi, Abrams, Debra J., Thomas, Alexandria, Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado 2022

Metabolomic profiling of samples from pediatric patients with asthma unveils deficient nutrients in African Americans

por Qu, Hui-Qi, Glessner, Joseph, Qu, Jingchun, Gilhool, Steven, Mentch, Frank, Campbell, Ian, Sleiman, Patrick, Connolly, John J., Hakonarson, Hakon
Publicado 2022

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

por Liu, Yichuan, Qu, Hui-Qi, Chang, Xiao, Mentch, Frank D, Qiu, Haijun, Wang, Xiang, Saeidian, Amir Hossein, Watson, Deborah, Glessner, Joseph, Hakonarson, Hakon
Publicado 2023

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

por Liu, Yichuan, Qu, Hui-Qi, Qu, Jingchun, Chang, Xiao, Mentch, Frank D., Nguyen, Kenny, Tian, Lifeng, Glessner, Joseph, Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado 2022

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

por Liu, Yichuan, Qu, Hui-Qi, Mentch, Frank D., Qu, Jingchun, Chang, Xiao, Nguyen, Kenny, Tian, Lifeng, Glessner, Joseph, Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado 2022

Genomic information of children with malignant brain tumors for the prediction of length of hospitalization

por Liu, Yichuan, Qu, Hui‐Qi, Chang, Xiao, Mentch, Frank D, Qiu, Haijun, Nguyen, Kenny, Wang, Xiang, Saeidian, Amir Hossein, Watson, Deborah, Glessner, Joseph, Hakonarson, Hakon
Publicado 2023

Genome-Wide Association Study of Serum Minerals Levels in Children of Different Ethnic Background

por Chang, Xiao, Li, Jin, Guo, Yiran, Wei, Zhi, Mentch, Frank D., Hou, Cuiping, Zhao, Yan, Qiu, Haijun, Kim, Cecilia, Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado 2015

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

por Liu, Yichuan, Qu, Hui-Qi, Chang, Xiao, Mentch, Frank D, Qiu, Haijun, Nguyen, Kenny, Wang, Xiang, Saeidian, Amir Hossein, Watson, Deborah, Glessner, Joseph, Hakonarson, Hakon
Publicado 2022

Ciliopathies: Coloring outside of the lines

por Strong, Alanna, Li, Dong, Mentch, Frank, Bedoukian, Emma, Hartung, Erum A., Meyers, Kevin, Skraban, Cara, Wen, Jessica, Medne, Livija, Glessner, Joseph, Watson, Deborah, Krantz, Ian, Hakonarson, Hakon
Publicado 2020

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

por Hadley, Dexter, Wu, Zhi-liang, Kao, Charlly, Kini, Akshata, Mohamed-Hadley, Alisha, Thomas, Kelly, Vazquez, Lyam, Qiu, Haijun, Mentch, Frank, Pellegrino, Renata, Kim, Cecilia, Connolly, John, Glessner, Joseph, Hakonarson, Hakon
Publicado 2014

Gene Network Analysis in a Pediatric Cohort Identifies Novel Lung Function Genes

por Ong, Bruce A., Li, Jin, McDonough, Joseph M., Wei, Zhi, Kim, Cecilia, Chiavacci, Rosetta, Mentch, Frank, Caboot, Jason B., Spergel, Jonathan, Allen, Julian L., Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado 2013

Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders

por Yao, Xueming, Glessner, Joseph T., Li, Junyi, Qi, Xiaohui, Hou, Xiaoyuan, Zhu, Chonggui, Li, Xiaoge, March, Michael E., Yang, Liu, Mentch, Frank D., Hain, Heather S., Meng, Xinyi, Xia, Qianghua, Hakonarson, Hakon, Li, Jin
Publicado 2021

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

por Chang, Xiao, Glessner, Joseph, Tin, Adrienne, Li, Jin, Guo, Yiran, Wei, Zhi, Liu, Yichuan, Mentch, Frank D., Hou, Cuiping, Zhao, Yan, Wang, Tiancheng, Qiu, Haijun, Kim, Cecilia, Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado 2015