The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder

por Wenger, Tara L., Kao, Charlly, McDonald-McGinn, Donna M., Zackai, Elaine H., Bailey, Alice, Schultz, Robert T., Morrow, Bernice E., Emanuel, Beverly S., Hakonarson, Hakon
Publicado 2016

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

por Fang, Li, Kao, Charlly, Gonzalez, Michael V., Mafra, Fernanda A., Pellegrino da Silva, Renata, Li, Mingyao, Wenzel, Sören-Sebastian, Wimmer, Katharina, Hakonarson, Hakon, Wang, Kai
Publicado 2019

Mendelian randomization analysis of plasma levels of CD209 and MICB proteins and the risk of varicose veins of lower extremities

por Shadrina, Alexandra S., Elgaeva, Elizaveta E., Stanaway, Ian B., Jarvik, Gail P., Namjou, Bahram, Wei, Wei-Qi, Glessner, Joe, Hakonarson, Hakon, Suri, Pradeep, Tsepilov, Yakov A.
Publicado 2022

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

Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Freshly Isolated versus Stored Blood Samples

por Qu, Hui-Qi, Kao, Charlly, Garifallou, James, Wang, Fengxiang, Snyder, James, Slater, Diana J., Hou, Cuiping, March, Michael, Connolly, John J., Glessner, Joseph T., Hakonarson, Hakon
Publicado 2023

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

por Wang, Kai, Kim, Cecilia, Bradfield, Jonathan, Guo, Yunfei, Toskala, Elina, Otieno, Frederick G, Hou, Cuiping, Thomas, Kelly, Cardinale, Christopher, Lyon, Gholson J, Golhar, Ryan, Hakonarson, Hakon
Publicado 2013

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

por Li, Dong, Bhoj, Elizabeth, McCormick, Elizabeth, Wang, Fengxiang, Snyder, James, Wang, Tiancheng, Zhao, Yan, Kim, Cecilia, Chiavacci, Rosetta, Tian, Lifeng, Falk, Marni J., Hakonarson, Hakon
Publicado 2016

Identification of copy number variants contributing to hallux valgus

por Zhou, Wentao, Jia, Jun, Qu, Hui-Qi, Ma, Feier, Li, Junyi, Qi, Xiaohui, Meng, Xinyi, Ding, Zhiyong, Zheng, Gang, Hakonarson, Hakon, Zeng, Xiantie, Li, Jin, Xia, Qianghua
Publicado 2023

CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations

por Dajani, Rana, Li, Jin, Wei, Zhi, Glessner, Joseph T., Chang, Xiao, Cardinale, Christopher J., Pellegrino, Renata, Wang, Tiancheng, Hakooz, Nancy, Khader, Yousef, Sheshani, Amina, Zandaki, Duaa, Hakonarson, Hakon
Publicado 2015

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

Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects

por Musfee, Fadi I., Agopian, A. J., Goldmuntz, Elizabeth, Hakonarson, Hakon, Morrow, Bernice E., Taylor, Deanne M., Tristani-Firouzi, Martin, Watkins, W. Scott, Yandell, Mark, Mitchell, Laura E.
Publicado 2021

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

por Verdi, Giavanna, Li, Dong, Elsea, Sarah H., Nelson, Beverly, Bhoj, Elizabeth J., Hakonarson, Hakon, Yearwood, Katherine R., Upadhya, Sharmila, Gluschitz, Sarah, Smith, Janice L., Sobering, Andrew K.
Publicado 2022

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual

por Maj, Mary, Taylor, Christie L., Landau, Kevin, Toriello, Helga V., Li, Dong, Bhoj, Elizabeth J., Hakonarson, Hakon, Nelson, Beverly, Gluschitz, Sarah, Walker, Ruth H., Sobering, Andrew K.
Publicado 2022

Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy – Genotypic Overlap with Pseudoxanthoma Elasticum

por Li, Qiaoli, Brodsky, Jill L., Conlin, Laura K., Pawel, Bruce, Glatz, Andrew C., Gafni, Rachel I., Schurgers, Leon, Uitto, Jouni, Hakonarson, Hakon, Deardorff, Matthew A., Levine, Michael A.
Publicado 2013

Genomic risk scores for juvenile idiopathic arthritis and its subtypes

por Cánovas, Rodrigo, Cobb, Joanna, Brozynska, Marta, Bowes, John, Li, Yun R, Smith, Samantha Louise, Hakonarson, Hakon, Thomson, Wendy, Ellis, Justine A, Abraham, Gad, Munro, Jane E, Inouye, Michael
Publicado 2020

Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients

por Qu, Jingchun, Qu, Hui-Qi, Bradfield, Jonathan P., Glessner, Joseph T., Chang, Xiao, Tian, Lifeng, March, Michael, Connolly, John J., Roizen, Jeffrey D., Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado 2021

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

por McInnes, L Alison, Nakamine, Alisa, Pilorge, Marion, Brandt, Tracy, Jiménez González, Patricia, Fallas, Marietha, Manghi, Elina R, Edelmann, Lisa, Glessner, Joseph, Hakonarson, Hakon, Betancur, Catalina, Buxbaum, Joseph D
Publicado 2010

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

por O'Rawe, Jason, Jiang, Tao, Sun, Guangqing, Wu, Yiyang, Wang, Wei, Hu, Jingchu, Bodily, Paul, Tian, Lifeng, Hakonarson, Hakon, Johnson, W Evan, Wei, Zhi, Wang, Kai, Lyon, Gholson J
Publicado 2013

Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders

por Glessner, Joseph T., Li, Jin, Wang, Dai, March, Michael, Lima, Leandro, Desai, Akshatha, Hadley, Dexter, Kao, Charlly, Gur, Raquel E., Cohen, Nadine, Sleiman, Patrick M. A., Li, Qingqin, Hakonarson, Hakon
Publicado 2017

Inducible knockout of Clec16a in mice results in sensory neurodegeneration

por Hain, Heather S., Pandey, Rahul, Bakay, Marina, Strenkowski, Bryan P., Harrington, Danielle, Romer, Micah, Motley, William W., Li, Jian, Lancaster, Eunjoo, Roth, Lindsay, Grinspan, Judith B., Scherer, Steven S., Hakonarson, Hakon
Publicado 2021