Hakon Hakonarson

2000 -

zajęcie: badacz

Hákon Hákonarson (born 1960) is an Icelandic genomics researcher and physician. He is the founder and director of the Center for Applied Genomics, endowed chair in genomics at the Children's Hospital of Philadelphia, and a professor of pediatrics at the Perelman School of Medicine at the University of Pennsylvania. Source: Wikipedia (en)

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Artykuły 651

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2022-01-08

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

Yichuan Liu, Hui-Qi Qu, Xiao Chang, Joseph Glessner, Hakon Hakonarson, Frank D Mentch, Patrick M Sleiman, Kenny Nguyen
2022-07-15

Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome

Melissa Egbert, Jon A Hyett, Zachary P Demko, Ylva Carlsson, Georgios Doulaveris, Hakon Hakonarson, Bo Jacobsson
2021-01-01

A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening

Hakon Hakonarson
2021-01-06

Association of novel rare coding variants with juvenile idiopathic arthritis

Hui-Qi Qu, Qianghua Xia, Jin Li, Hakon Hakonarson, Joseph Glessner, Michael E. March, Patrick M Sleiman, Kenny Nguyen
2021-11-16

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

Erola Pairo-Castineira, Franz Rüschendorf, Tarunveer S Ahluwalia, Hansjörg Baurecht, Hans Bisgaard, Klaus Bønnelykke, Sara J Brown, Mariona Bustamante, Adnan Custovic, Mario Falchi, Dietmar Fernandez Orth, Andre Franke, Christian Gieger, Hakon Hakonarson, Patrick G. Holt, Norbert Hübner, Pirro G Hysi, Marjo-Riitta Järvelin, Robert Karlsson, Gerard H. Koppelman, Patrik K E Magnusson, Martina Müller-Nurasyid, Markus M Nöthen, Lavinia Paternoster, Craig E. Pennell, Annette Peters, Konrad Rawlik, Sylvain Sébert, Angela Simpson, Albert Tenesa, Alessia Visconti, Judith M Vonk, Carol A Wang, Catherine L Worth, Shyamali C. Dharmage, Manuel A Ferreira, Patrick M Sleiman, Marie Standl, Agnieszka Szwajda
2021-01-15

Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23

Sophie Garnier, Vera Regitz-Zagrosek, Christian Hengstenberg, Richard Isnard, Eloisa Arbustini, Jessica van Setten, Hakon Hakonarson, Klaus Stark, Georgios Kararigas, Jeanette Erdmann, Laurent Fauchier, Zofia Bilińska, Daiane Hemerich, Ganapathi Varma Saripella, Anne Boland, Philippe Charron
2020-01-15

Genetic architecture study of rheumatoid arthritis and juvenile idiopathic arthritis

Hakon Hakonarson
2020-04-22

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome

Hui-Qi Qu, Hakon Hakonarson
2020-04-23

Novel KITLG/SCF Regulatory Variants Are Associated with Lung Function in African American Children with Asthma

Hakon Hakonarson, Fred Lurmann, Deborah A Nickerson, Frank D Gilliland, Zhanghua Chen, Esteban Burchard, Celeste Eng
2020-04-29

Variants in the Kisspeptin-GnRH Pathway Modulate the Hormonal Profile and Reproductive Outcomes

Helder Nakaya, Mayana Zatz, Jaqueline Yu Ting Wang, Michel S. Naslavsky, Camila Martins Trevisan, Frederico Moraes Ferreira, Hakon Hakonarson
2020-05-05

The polygenic architecture of left ventricular mass mirrors the clinical epidemiology

Todd L. Edwards, Hakon Hakonarson, Joshua C. Denny, Dan Roden, Marc S. Williams, Gail P. Jarvik, Jonathan D. Mosley, Thomas J. Wang, David R Crosslin, Iftikhar J Kullo, Quinn Stanton Wells, Jacklyn Nikole Hellwege, Rebecca T Levinson, Ayush Giri, Mingjian Shi
2020-05-01

Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups

Christopher G. Chute, Hakon Hakonarson, Iftikhar J Kullo
2020-05-07

Type I IFN response associated with mTOR activation in the TAFRO subtype of idiopathic multicentric Castleman disease

Hakon Hakonarson, Frits van Rhee, Michael R. Betts
2020-05-12

Distinct features of SARS-CoV-2-specific IgA response in COVID-19 patients

Hui-Qi Qu, Hakon Hakonarson
2020-05-01

Neuroinflammation and EIF2 Signaling Persist despite Antiretroviral Treatment in an hiPSC Tri-culture Model of HIV Infection

Hakon Hakonarson
2020-05-21

Intragenic deletions of GNAS in pseudohypoparathyroidism type 1A identify a new region affecting methylation of exon A/B

Hakon Hakonarson
2020-05-08

The Infection Rate of the Coronavirus Disease 2019 (COVID-19) in Wuhan, China

Hui-Qi Qu, Zhangkai Cheng, Hakon Hakonarson
2020-05-22

TNFAIP8 controls murine intestinal stem cell homeostasis and regeneration by regulating microbiome-induced Akt signaling

Jason R Goldsmith, Mayassa J Bou-Dargham, Hakon Hakonarson, Jeffrey L. Wrana
2020-01-09

A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies

Yoonjung Yoonie Joo, Ky'Era Actkins, Digna R. Velez Edwards, Hakon Hakonarson, Joshua C. Denny, Marylyn D. Ritchie
2020-06-05

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

Tara L Wenger, Angela Sun, Danny E. Miller, Anita E Beck, John Christodoulou, Yuri A Zarate, Elizabeth J Bhoj, William B. Dobyns, Hakon Hakonarson, Joseph T Shieh, David B Everman, Cynthia J Curry
2020-06-09

Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects

Pediatric Cardiac Genomics Consortium*, A J Agopian, Bernice E. Morrow, Fadi Musfee, Deanne M. Taylor, Laura E Mitchell, Elizabeth Goldmuntz, Hakon Hakonarson
2020-06-08

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family

Dong Li, Sarah H. Elsea, John C Carey, Andrew K Sobering, Hakon Hakonarson
2020-06-02

European genetic ancestry associated with risk of childhood ependymoma

Libby M Morimoto, Hakon Hakonarson, Catherine Metayer
2020-07-02

A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly

Elizabeth J Bhoj, Andrew K Sobering, Hakon Hakonarson
2020-07-07

Unsupervised Modeling and Genome-Wide Association Identify Novel Features of Allergic March Trajectories

Hakon Hakonarson
2020-07-16

Participant choices for return of genomic results in the eMERGE Network

Christin Hoell, Robert R Freimuth, Julia Wynn, Hakon Hakonarson, Iftikhar J Kullo
2020-07-22

The Infection Rate of the Coronavirus Disease 2019 (COVID-19) in Wuhan, China: a Combined Analysis of Population Samples

Hakon Hakonarson
2020-08-02

Risk of preeclampsia in patients with maternal genetic predisposition to common medical conditions: a case-control study

Kathryn J Gray, Hakon Hakonarson, Thomas F. McElrath
2020-08-03

Assessing non-Mendelian inheritance in inherited axonopathies

Dana M Bis, Inherited Neuropathy Consortium, Hakon Hakonarson, Ziv Gan-Or, Guy A. Rouleau, Kym M Boycott
2020-07-29

Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

Hakon Hakonarson, Sonja Berndt, Ulrike Peters, Elizabeth A Platz, Corinne Joshu, Douglas A. Corley, Noralane Lindor, Hermann Brenner, Lori C Sakoda, Albert de la Chapelle, Shuji Ogino, Anna H Wu, Paul D P Pharoah, Kenneth Offit, Graham Giles, Jessica Minnier, Loic Le Marchand
2020-08-07

High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor

Jinling Wang, Hui-Qi Qu, Hakon Hakonarson
2020-08-19

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Hakon Hakonarson, Sarina G. Kant, Ruth Newbury-Ecob, Louanne Hudgins, Stanley F Nelson

Human - wd:Q30003940

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