The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort

por Robinson, Elise B., Kirby, Andrew, Ruparel, Kosha, Yang, Jian, McGrath, Lauren, Anttila, Verneri, Neale, Benjamin M., Merikangas, Kathleen, Lehner, Thomas, Sleiman, Patrick M.A., Daly, Mark J., Gur, Ruben, Gur, Raquel, Hakonarson, Hakon
Publicado 2014

Food allergen triggers are increased in children with the TSLP risk allele and eosinophilic esophagitis

por Fahey, Lisa M., Chandramouleeswaran, Prasanna M., Guan, Shaobo, Benitez, Alain J., Furuta, Glenn T., Aceves, Seema S., Wang, Mei-Lun, Liacouras, Chris A., Muir, Amanda B., Sleiman, Patrick MA, Hakonarson, Hakon, Spergel, Jonathan M., Cianferoni, Antonella
Publicado 2018

Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders

por Glessner, Joseph T., Khan, Munir E., Chang, Xiao, Liu, Yichuan, Otieno, F. George, Lemma, Maria, Slaby, Isabella, Hain, Heather, Mentch, Frank, Li, Jin, Kao, Charlly, Sleiman, Patrick M. A., March, Michael E., Connolly, John, Hakonarson, Hakon
Publicado 2023

Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma

por McDaniel, Lee D., Conkrite, Karina L., Chang, Xiao, Capasso, Mario, Vaksman, Zalman, Oldridge, Derek A., Zachariou, Anna, Horn, Millicent, Diamond, Maura, Hou, Cuiping, Iolascon, Achille, Hakonarson, Hakon, Rahman, Nazneen, Devoto, Marcella, Diskin, Sharon J.
Publicado 2017

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

por Chen, Ying, Gilbert, Melissa A., Grochowski, Christopher M., McEldrew, Deborah, Llewellyn, Jessica, Waisbourd-Zinman, Orith, Hakonarson, Hakon, Bailey-Wilson, Joan E., Russo, Pierre, Wells, Rebecca G., Loomes, Kathleen M., Spinner, Nancy B., Devoto, Marcella
Publicado 2018

Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence

por Cruz, Pedro R. S., Ananina, Galina, Gil-da-Silva-Lopes, Vera Lucia, Simioni, Milena, Menaa, Farid, Bezerra, Marcos A. C., Domingos, Igor F., Araújo, Aderson S., Pellegrino, Renata, Hakonarson, Hakon, Costa, Fernando F., de Melo, Mônica Barbosa
Publicado 2019

Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States

por Oluwafemi, Omobola O., Musfee, Fadi I., Mitchell, Laura E., Goldmuntz, Elizabeth, Xie, Hongbo M., Hakonarson, Hakon, Morrow, Bernice E., Guo, Tingwei, Taylor, Deanne M., McDonald-McGinn, Donna M., Emanuel, Beverly S., Agopian, A. J.
Publicado 2021

CSF-1 maintains pathogenic but not homeostatic myeloid cells in the central nervous system during autoimmune neuroinflammation

por Hwang, Daniel, Seyedsadr, Maryam S., Ishikawa, Larissa Lumi Watanabe, Boehm, Alexandra, Sahin, Ziver, Casella, Giacomo, Jang, Soohwa, Gonzalez, Michael V., Garifallou, James P., Hakonarson, Hakon, Zhang, Weifeng, Xiao, Dan, Rostami, Abdolmohamad, Zhang, Guang-Xian, Ciric, Bogoljub
Publicado 2022

NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients

por March, Michael E., Gutierrez-Uzquiza, Alvaro, Snorradottir, Asbjorg Osk, Matsuoka, Leticia S., Balvis, Noelia Fonseca, Gestsson, Thorgeir, Nguyen, Kenny, Sleiman, Patrick M. A., Kao, Charlly, Isaksson, Helgi J., Bragason, Birkir Thor, Olafsson, Elias, Palsdottir, Astridur, Hakonarson, Hakon
Publicado 2021

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

por Strong, Alanna, O'Grady, Gina, Shih, Evelyn, Bishop, Jonathan R., Loomes, Kathleen, Diamond, Tamir, Hartung, Erum A., Wong, William, Cuddapah, Sanmati, Cahill, Anne Marie, Hou, Cuiping, Slater, Diana, Vaccaro, Courtney, Watson, Deborah, Li, Dong, Hakonarson, Hakon
Publicado 2021

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

por Strong, Alanna, March, Michael E., Cardinale, Christopher J., Kim, Sophia E., Merves, Jamie, Whitworth, Hilary, Raffini, Leslie, Larosa, Christopher, Copelovitch, Lawrence, Hou, Cuiping, Slater, Diana, Vaccaro, Courtney, Watson, Deborah, Zackai, Elaine H., Billheimer, Jeffrey, Hakonarson, Hakon
Publicado 2021

Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort

por Strong, Alanna, Behr, Meckenzie, Lott, Carina, Clark, Abigail J., Mentch, Frank, Da Silva, Renata Pellegrino, Rux, Danielle R., Campbell, Robert, Skraban, Cara, Wang, Xiang, Anari, Jason B., Sinder, Benjamin, Cahill, Patrick J., Sleiman, Patrick, Hakonarson, Hakon
Publicado 2023

Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study

por Ron, Hayley A., Crowley, Terrence Blaine, Liu, Yichuan, Unolt, Marta, Schindewolf, Erica, Moldenhauer, Julie, Rychik, Jack, Goldmuntz, Elizabeth, Emanuel, Beverly S., Ryba, Douglas, Gaynor, James William, Zackai, Elaine H., Hakonarson, Hakon, McDonald-McGinn, Donna M.
Publicado 2022

Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions

por Xiao, Brenda, Velez Edwards, Digna R., Lucas, Anastasia, Drivas, Theodore, Gray, Kathryn, Keating, Brendan, Weng, Chunhua, Jarvik, Gail P., Hakonarson, Hakon, Kottyan, Leah, Elhadad, Noemie, Wei, Wei‐Qi, Luo, Yuan, Kim, Dokyoon, Ritchie, Marylyn, Verma, Shefali Setia
Publicado 2023

Phenotype Restricted Genome-Wide Association Study Using a Gene-Centric Approach Identifies Three Low-Risk Neuroblastoma Susceptibility Loci

por Nguyễn, Lễ B., Diskin, Sharon J., Capasso, Mario, Wang, Kai, Diamond, Maura A., Glessner, Joseph, Kim, Cecilia, Attiyeh, Edward F., Mosse, Yael P., Cole, Kristina, Iolascon, Achille, Devoto, Marcella, Hakonarson, Hakon, Li, Hongzhe K., Maris, John M.
Publicado 2011

Results of Genome-Wide Analyses on Neurodevelopmental Phenotypes at Four-Year Follow-Up following Cardiac Surgery in Infancy

por Kim, Daniel S., Stanaway, Ian B., Rajagopalan, Ramakrishnan, Bernbaum, Judy C., Solot, Cynthia B., Burnham, Nancy, Zackai, Elaine H., Clancy, Robert R., Nicolson, Susan C., Gerdes, Marsha, Nickerson, Deborah A., Hakonarson, Hakon, Gaynor, J. William, Jarvik, Gail P.
Publicado 2012

Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes

por Forgetta, Vincenzo, Manousaki, Despoina, Istomine, Roman, Ross, Stephanie, Tessier, Marie-Catherine, Marchand, Luc, Li, Min, Qu, Hui-Qi, Bradfield, Jonathan P., Grant, Struan F.A., Hakonarson, Hakon, Paterson, Andrew D., Piccirillo, Ciriaco, Polychronakos, Constantin, Richards, J. Brent
Publicado 2020

Heparin-binding protein levels correlate with aggravation and multiorgan damage in severe COVID-19

por Xue, Mingshan, Zeng, Yifeng, Qu, Hui-Qi, Zhang, Teng, Li, Ning, Huang, Huimin, Zheng, Peiyan, Hu, Haisheng, Zhou, Luqian, Duan, Zhifeng, Zhang, Yong, Bao, Wei, Tian, Li-feng, Hakonarson, Hakon, Zhong, Nanshan, Zhang, Xiaohua Douglas, Sun, Baoqing
Publicado 2021

Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation

por Wang, Kai, Edmondson, Andrew C., Li, Mingyao, Gao, Fan, Qasim, Atif N., Devaney, Joseph M., Burnett, Mary Susan, Waterworth, Dawn M., Mooser, Vincent, Grant, Struan F. A., Epstein, Stephen E., Reilly, Muredach P., Hakonarson, Hakon, Rader, Daniel J.
Publicado 2011

Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma

por Diskin, Sharon J, Capasso, Mario, Schnepp, Robert W, Cole, Kristina A, Attiyeh, Edward F, Hou, Cuiping, Diamond, Maura, Carpenter, Erica L, Winter, Cynthia, Lee, Hanna, Jagannathan, Jayanti, Latorre, Valeria, Iolascon, Achille, Hakonarson, Hakon, Devoto, Marcella, Maris, John M
Publicado 2012