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1

Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders

Chalkia, Dimitra, Singh, Larry N., Leipzig, Jeremy, Lvova, Maria, Derbeneva, Olga, Lakatos, Anita, Hadley, Dexter, Hakonarson, Hakon, Wallace, Douglas C.

Journal:

JAMA Psychiatry

Year:

2017

Language:

english

File:

PDF, 410 KB

english, 2017

2

TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population

Cook-Sather, Scott D., Li, Jin, Goebel, Theodora K., Sussman, Emily M., Rehman, Mohamed A., Hakonarson, Hakon

Journal:

Year:

2014

Language:

english

File:

PDF, 971 KB

english, 2014

3

Etiology of Autism Spectrum Disorder: A Genomics Perspective

Connolly, John J., Hakonarson, Hakon

Journal:

Current Psychiatry Reports

Year:

2014

Language:

english

File:

PDF, 389 KB

english, 2014

4

Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies

Elizabeth Goldmuntz, Prasuna Paluru, Joseph Glessner, Hakon Hakonarson, Jaclyn A. Biegel, Peter S. White, Xiaowu Gai, Tamim H. Shaikh

Journal:

Congenital Heart Disease

Year:

2011

Language:

english

File:

PDF, 413 KB

english, 2011

5

A Genome-Wide Association Study of Autism Incorporating Autism Diagnostic Interview–Revised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale

John J. Connolly, Joseph T. Glessner, Hakon Hakonarson

Journal:

Child Development

Year:

2012

Language:

english

File:

PDF, 474 KB

english, 2012

6

Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence

St Pourcain, Beate, Skuse, David H, Mandy, William P, Wang, Kai, Hakonarson, Hakon, Timpson, Nicholas J, Evans, David M, Kemp, John P, Ring, Susan M, McArdle, Wendy L, Golding, Jean, Smith, George Dav

Journal:

Molecular Autism

Year:

2014

Language:

english

File:

PDF, 709 KB

english, 2014

7

A Genome-Wide Association Study on Obesity and Obesity-Related Traits

Wang, Kai, Li, Wei-Dong, Zhang, Clarence K., Wang, Zuoheng, Glessner, Joseph T., Grant, Struan F. A., Zhao, Hongyu, Hakonarson, Hakon, Price, R. Arlen, Zhao, Zhongming

Journal:

Year:

2011

Language:

english

File:

PDF, 229 KB

english, 2011

8

Genome-wide association studies in type 1 diabetes

Struan F.A. Grant, Hakon Hakonarson

Journal:

Current Diabetes Reports

Year:

2009

Language:

english

File:

PDF, 336 KB

english, 2009

9

X‐chromosome association studies of congenital heart defects

Agopian, A. J., Hoang, Thanh T., Goldmuntz, Elizabeth, Hakonarson, Hakon, Musfee, Fadi I., Mitchell, Laura E.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 806 KB

2020

10

6.12 Disruptions in Glutamatergic Network and Neuronal Connectivity Genes in Children and Adolescents With Attention-Deficit/Hyperactivity Disorder (ADHD): Possible Association With Emotional Dysregulation

Elia, Josephine, Kim, Cecilia, Khan, Munir, Mazzotti, Diego, Hakonarson, Hakon, Fitts, David, Squires, Liza A.

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2017

Language:

english

File:

PDF, 213 KB

english, 2017

11

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant

Desai, Akshatha, Connolly, John J., March, Michael, Hou, Cuiping, Chiavacci, Rosetta, Kim, Cecilia, Lyon, Gholson, Hadley, Dexter, Hakonarson, Hakon

Journal:

BMC Musculoskeletal Disorders

Year:

2016

Language:

english

File:

PDF, 1.43 MB

english, 2016

12

A current snapshot of common genomic variants contribution in psychiatric disorders

Santoro, Marcos L., Moretti, Patricia N., Pellegrino, Renata, Gadelha, Ary, Abílio, Vanessa C., Hayashi, Mirian A.F., Belangero, Sintia I., Hakonarson, Hakon

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2016

Language:

english

File:

PDF, 126 KB

english, 2016

13

Mitochondrial heteroplasmy and the influence of aging

Neal Sondheimer⁎, Catherine Glatz, Matthew A. Deardorff, Abba M. Krieger, Hakon Hakonarson

Journal:

Year:

2011

Language:

english

File:

PDF, 59 KB

english, 2011

14

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

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

Journal:

Molecular Autism

Year:

2010

Language:

english

File:

PDF, 1.52 MB

english, 2010

15

An improved framework for confound regression and filtering for control of motion artifact in the preprocessing of resting-state functional connectivity data

Theodore D. Satterthwaite, Mark A. Elliott, Raphael T. Gerraty, Kosha Ruparel, James Loughead, Monica E. Calkins, Simon B. Eickhoff, Hakon Hakonarson, Ruben C. Gur, Raquel E. Gur, Daniel H. Wolf

Journal:

Year:

2013

Language:

english

File:

PDF, 1.79 MB

english, 2013

16

Common variants at 5q33.1 predispose to migraine in African-American children

Chang, Xiao, Pellegrino, Renata, Garifallou, James, March, Michael, Snyder, James, Mentch, Frank, Li, Jin, Hou, Cuiping, Liu, Yichuan, Sleiman, Patrick M A, Hakonarson, Hakon

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 792 KB

english, 2018

17

Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling

Hall, Taryn O., Stanaway, Ian B., Carrell, David S., Carroll, Robert J., Denny, Joshua C., Hakonarson, Hakon, Larson, Eric B., Mentch, Frank D., Peissig, Peggy L., Pendergrass, Sarah A., Rosenthal, El

Journal:

Genes and Immunity

Year:

2018

Language:

english

File:

PDF, 1.26 MB

english, 2018

18

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

Ryan, Sean K., Gonzalez, Michael V., Garifallou, James P., Bennett, Frederick C., Williams, Kimberly S., Sotuyo, Nathaniel P., Mironets, Eugene, Cook, Kieona, Hakonarson, Hakon, Anderson, Stewart A.,

Journal:

Stem Cell Reports

Year:

2020

Language:

english

File:

PDF, 3.59 MB

english, 2020

19

Classification of genetic profiles of Crohn’s disease: a focus on the ATG16L1 gene

Grant, Struan FA, Baldassano, Robert N, Hakonarson, Hakon

Journal:

Expert Review of Molecular Diagnostics

Year:

2008

Language:

english

File:

PDF, 256 KB

english, 2008

20

Homozygosity for the V37I GJB 2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations

Gallant, Emily, Francey, Lauren, Tsai, Ellen A., Berman, Micah, Zhao, Yaru, Fetting, Heather, Kaur, Maninder, Deardorff, Matthew A., Wilkens, Alisha, Clark, Dinah, Hakonarson, Hakon, Rehm, Heidi L., K

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 219 KB

english, 2013

21

Common variants in polygenic schizophrenia

Joseph T Glessner, Hakon Hakonarson

Journal:

Year:

2009

Language:

english

File:

PDF, 558 KB

english, 2009

22

M1006 Copy Number Variation: A Potential Susceptibility Factor for Biliary Atresia

Leyva-Vega, Melissa, Thiel, Brian, Rand, Elizabeth B., Hakonarson, Hakon, Spinner, Nancy B., Haber, Barbara

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 81 KB

english, 2009

23

DENND1B gene variants associate with elevated exhaled nitric oxide in healthy high-risk neonates

Chawes, Bo L.K., Bischoff, Anne Louise, Kreiner-Møller, Eskil, Buchvald, Frederik, Hakonarson, Hakon, Bisgaard, Hans

Journal:

Pediatric Pulmonology

Year:

2015

Language:

english

File:

PDF, 184 KB

english, 2015

24

Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A

Elia, Josephine, Capasso, Mario, Zaheer, Zafar, Lantieri, Francesca, Ambrosini, Paul, Berrettini, Wade, Devoto, Marcella, Hakonarson, Hakon

Journal:

Psychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 140 KB

english, 2009

25

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart DefectsCLINICAL PERSPECTIVE

Agopian, A. J., Goldmuntz, Elizabeth, Hakonarson, Hakon, Sewda, Anshuman, Taylor, Deanne, Mitchell, Laura E.

Journal:

Circulation Cardiovascular Genetics

Year:

2017

Language:

english

File:

PDF, 817 KB

english, 2017

26

GW24-e0403 Autoantibodies against angiotensin II type 1 receptor-positive patients with heart failure have better clinical efficacy to perindopril treatment

Qian, Du, Wang, Xin, Zhang, Zhiyong, Xu, Lin, Liu, Jiamei, Zhang, Juan, Wang, Hua, Chen, Jin, Ma, Guilin, Hakonarson, Hakon, Hu, Aihua, Zhang, Lin

Journal:

Year:

2013

Language:

english

File:

PDF, 67 KB

english, 2013

27

Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patients

Sood, Nikita, Connolly, John J., Mentch, Frank D., Vazquez, Lyam, Sleiman, Patrick M.A., Hysinger, Erik B., Hakonarson, Hakon

Journal:

Pharmacogenetics and Genomics

Year:

2018

Language:

english

File:

PDF, 120 KB

english, 2018

28

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK : Expanding the phenotypic spectrum

Murali, Chaya, Li, Dong, Grand, Katheryn, Hakonarson, Hakon, Bhoj, Elizabeth

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 648 KB

english, 2019

29

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay

Chad R. Haldeman-Englert, Xiaowu Gai, Juan Carlos Perin, Melissa Ciano, Sara S. Halbach, Elizabeth A. Geiger, Donna M. McDonald-McGinn, Hakon Hakonarson, Elaine H. Zackai, Tamim H. Shaikh

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 239 KB

english, 2009

30

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases

Matthew A. Deardorff, Himabindu Gaddipati, Paige Kaplan, Pedro A. Sanchez-Lara, Neal Sondheimer, Nancy B. Spinner, Hakon Hakonarson, Can Ficicioglu, Jaya Ganesh, Thomas Markello, Brett Loechelt, Dina

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 413 KB

english, 2008

31

TELOMERE LENGTH AND CARDIOVASCULAR OUTCOMES

Christian T. Ruff, Jessica Mega, David Morrow, Benjamin Scirica, Edward C. Frackelton, Hakon Hakonarson, Kevin Crowley, Charles Contant, Christopher Cannon, Eugene Braunwald, Marc Sabatine

Journal:

Journal of the American College of Cardiology

Year:

2012

Language:

english

File:

PDF, 211 KB

english, 2012

32

Association of Type 2 Diabetes Susceptibility Loci With One-Year Weight Loss in the Look AHEAD Clinical Trial

Peter, Inga, McCaffery, Jeanne M., Kelley-Hedgepeth, Alyson, Hakonarson, Hakon, Reis, Steven, Wagenknecht, Lynne E., Kopin, Alan S., Huggins, Gondon S.

Journal:

Year:

2012

Language:

english

File:

PDF, 161 KB

english, 2012

33

Proteomics screen to reveal molecular changes mediated by C722G missense mutation in CHRM2 gene

Hou, Dongyan, Chen, Ying, Liu, Jiamei, Xu, Lin, Zhang, Zhiyong, Zhang, Juan, Wang, Hua, Wang, Xin, Chen, Jin, Zhao, Rongrui, Hu, Aihua, Hakonarson, Hakon, Zhang, Lin, Shen, Yan

Journal:

Journal of Proteomics

Year:

2013

Language:

english

File:

PDF, 1.60 MB

english, 2013

34

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

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

Journal:

The Journal of Investigative Dermatology

Year:

2014

Language:

english

File:

PDF, 1.58 MB

english, 2014

35

Coral illumination through an optic glass-fiber: incorporation of 14C photosynthates

Leyva-Vega, Melissa, Thiel, Brian, Rand, Elizabeth B., Hakonarson, Hakon, Spinner, Nancy B., Haber, Barbara

Journal:

Deep Sea Research Part B. Oceanographic Literature Review

Year:

1984

Language:

english

File:

PDF, 86 KB

english, 1984

36

Population Genomics of Drug Response

Eva Halapi,Dr Kari Stefansson,Dr Hakon Hakonarson

Journal:

American Journal of PharmacoGenomics

Year:

2004

Language:

english

File:

PDF, 226 KB

english, 2004

37

Regulation of Second Messengers Associated with Airway Smooth Muscle Contraction and Relaxation

HAKONARSON, HAKON, GRUNSTEIN, MICHAEL M.

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

1998

Language:

english

File:

PDF, 150 KB

english, 1998

38

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism

Li, Dong, Tian, Lifeng, Hou, Cuiping, Kim, Cecilia E., Hakonarson, Hakon, Levine, Michael A.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2016

Language:

english

File:

PDF, 396 KB

english, 2016

39

Candidate Loci are Revealed by an Initial Genome-wide Association Study of Juvenile Osteochondritis Dissecans

Yellin, Joseph L., Trocle, Ashley, Grant, Struan F.A., Hakonarson, Hakon, Shea, Kevin G., Ganley, Theodore J.

Journal:

Journal of Pediatric Orthopaedics

Year:

2015

Language:

english

File:

PDF, 150 KB

english, 2015

40

Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation

Thomas P. Cappola, Scot J. Matkovich, Wei Wang, Derek van Booven, Mingyao Li, Xuexia Wang, Liming Qu, Nancy K. Sweitzer, James C. Fang, Muredach P. Reilly, Hakon Hakonarson, Jeanne M. Nerbonne, Gerald

Journal:

Proceedings of the National Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 1.47 MB

english, 2011

41

Non-coding RNA dysregulation in the amygdala region of schizophrenia patients contributes to the pathogenesis of the disease

Liu, Yichuan, Chang, Xiao, Hahn, Chang-Gyu, Gur, Raquel E., Sleiman, Patrick A. M., Hakonarson, Hakon

Journal:

Translational Psychiatry

Year:

2018

Language:

english

File:

PDF, 585 KB

english, 2018

42

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

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

Journal:

Nature Communications

Year:

2019

File:

PDF, 3.29 MB

2019

43

European genetic ancestry associated with risk of childhood ependymoma

Zhang, Chenan, Ostrom, Quinn T, Hansen, Helen M, Gonzalez-Maya, Julio, Hu, Donglei, Ziv, Elad, Morimoto, Libby, de Smith, Adam J, Muskens, Ivo S, Kline, Cassie N, Vaksman, Zalman, Hakonarson, Hakon, D

Journal:

Year:

2020

File:

PDF, 400 KB

2020

44

[American Thoracic Society American Thoracic Society 2011 International Conference, May 13-18, 2011 â¢ Denver Colorado - ()] D25. CYSTIC FIBROSIS - Genetic, Genomic And Clinical Characterization Of Cystic Fibrosis In A Pediatric Population

Healy, Fiona M., Wang, Kai, Allen, Julian L., Hakonarson, Hakon

Year:

2011

File:

PDF, 19 KB

2011

45

Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies

Margaret J. Dougherty, Donna M. Wilmoth, Laura S. Tooke, Tamim H. Shaikh, Xiaowu Gai, Hakon Hakonarson, Jaclyn A. Biegel

Journal:

Cancer Genetics

Year:

2011

Language:

english

File:

PDF, 1.70 MB

english, 2011

46

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome

Conlin, Laura K., Kaur, Maninder, Izumi, Kosuke, Campbell, Lindsey, Wilkens, Alisha, Clark, Dinah, Deardorff, Matthew A., Zackai, Elaine H., Pallister, Phillip, Hakonarson, Hakon, Spinner, Nancy B., K

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 2.34 MB

english, 2012

47

Planning a genome-wide association study: Points to consider

Hakonarson, Hakon, Grant, Struan F. A.

Journal:

Annals of Medicine

Year:

2011

Language:

english

File:

PDF, 175 KB

english, 2011

48

Practical challenges in integrating genomic data into the electronic health record

Kho, Abel N., Rasmussen, Luke V., Connolly, John J., Peissig, Peggy L., Starren, Justin, Hakonarson, Hakon, Hayes, M. Geoffrey

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 325 KB

english, 2013

49

Current concepts on the genetics of asthma

Hakonarson, Hakon, Wjst, Matthias

Journal:

Current Opinion in Pediatrics

Year:

2001

Language:

english

File:

PDF, 105 KB

english, 2001

50

O-021 Expression of Transcripts in Ulcerative Colitis Biopsies and Genome-wide Association Study Loci Overlap Substantially in Pathway-based Analysis

Cardinale, Christopher, Wei, Zhi, Li, Jin, Zhu, Junfei, Baldassano, Robert, Grant, Struan, Hakonarson, Hakon

Journal:

Inflammatory Bowel Diseases

Year:

2013

Language:

english

File:

PDF, 61 KB

english, 2013

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