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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

Année:

2017

Langue:

english

Fichier:

PDF, 410 KB

english, 2017

2

Genome-wide association studies in type 1 diabetes

Struan F.A. Grant, Hakon Hakonarson

Journal:

Current Diabetes Reports

Année:

2009

Langue:

english

Fichier:

PDF, 336 KB

english, 2009

3

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

Année:

2010

Langue:

english

Fichier:

PDF, 1.52 MB

english, 2010

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

Année:

2011

Langue:

english

Fichier:

PDF, 413 KB

english, 2011

5

Mitochondrial heteroplasmy and the influence of aging

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

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 59 KB

english, 2011

6

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:

Année:

2013

Langue:

english

Fichier:

PDF, 1.79 MB

english, 2013

7

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

Année:

2012

Langue:

english

Fichier:

PDF, 474 KB

english, 2012

8

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:

Année:

2011

Langue:

english

Fichier:

PDF, 229 KB

english, 2011

9

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

Année:

2008

Langue:

english

Fichier:

PDF, 256 KB

english, 2008

10

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:

Année:

2014

Langue:

english

Fichier:

PDF, 971 KB

english, 2014

11

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

Année:

2014

Langue:

english

Fichier:

PDF, 709 KB

english, 2014

12

Etiology of Autism Spectrum Disorder: A Genomics Perspective

Connolly, John J., Hakonarson, Hakon

Journal:

Current Psychiatry Reports

Année:

2014

Langue:

english

Fichier:

PDF, 389 KB

english, 2014

13

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

Année:

2016

Langue:

english

Fichier:

PDF, 1.43 MB

english, 2016

14

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

Année:

2017

Langue:

english

Fichier:

PDF, 213 KB

english, 2017

15

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

Année:

2018

Langue:

english

Fichier:

PDF, 792 KB

english, 2018

16

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

Année:

2018

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2018

17

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

Année:

2020

Langue:

english

Fichier:

PDF, 3.59 MB

english, 2020

18

Atypical teratoid/rhabdoid tumor in a patient with Beckwith–Wiedemann syndrome

Eric M. Jackson, Tamim H. Shaikh, Fan Zhang, Luanne M. Wainwright, Phillip B. Storm, Hakon Hakonarson, Elaine H. Zackai, Jaclyn A. Biegel

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 101 KB

english, 2007

19

Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia

Allison Zajac, Seung-Hak Baek, Imad Salhab, Melissa A. Radecki, Sukwha Kim, Hakon Hakonarson, Hyun-Duck Nah

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 311 KB

english, 2010

20

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3

Melissa Leyva-Vega, Jennifer Gerfen, Brian D. Thiel, Dorota Jurkiewicz, Elizabeth B. Rand, Joanna Pawlowska, Diana Kaminska, Pierre Russo, Xiaowu Gai, Ian D. Krantz, Binita M. Kamath, Hakon Hakonarson

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 421 KB

english, 2010

21

Mosaic trisomy 17: Variable clinical and cytogenetic presentation

Robert Daber, Kimberly A. Chapman, Eduardo Ruchelli, Stefanie Kasperski, Surabhi Mulchandani, Brian D. Thiel, Hakon Hakonarson, Elaine H. Zackai, Laura K. Conlin, Nancy B. Spinner

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 618 KB

english, 2011

22

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

Lauren J. Francey, Laura K. Conlin, Hanna E. Kadesch, Dinah Clark, Donna Berrodin, Yi Sun, Joe Glessner, Hakon Hakonarson, Chaim Jalas, Chaim Landau, Nancy B. Spinner, Margaret Kenna, Michal Sagi, Hei

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 731 KB

english, 2012

23

Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum

Francesca Lantieri, Joseph T. Glessner, Hakon Hakonarson, Josephine Elia, Marcella Devoto

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 115 KB

english, 2010

24

Genome-wide association studies (GWAS): impact on elucidating the aetiology of diabetes

Hakon Hakonarson, Struan F. A. Grant

Journal:

Diabetes/Metabolism Research and Reviews

Année:

2011

Langue:

english

Fichier:

PDF, 157 KB

english, 2011

25

Genome wide association (GWA) predictors of anti-TNFα therapeutic responsiveness in pediatric inflammatory bowel disease

Marla C. Dubinsky, Ling Mei, Madison Friedman, Tanvi Dhere, Talin Haritunians, Hakon Hakonarson, Cecilia Kim, Joseph Glessner, Stephan R. Targan, Dermot P. McGovern, Kent D. Taylor, Jerome I. Rotter

Journal:

Inflammatory Bowel Diseases

Année:

2010

Langue:

english

Fichier:

PDF, 201 KB

english, 2010

26

Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia

Li-San Wang, Dubravka Hranilovic, Kai Wang, Ingrid E Lindquist, Lindsay Yurcaba, Zorana-Bujas Petkovic, Nicole Gidaya, Branimir Jernej, Hakon Hakonarson, Maja Bucan

Journal:

BMC Medical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 2.82 MB

english, 2010

27

Role ofFLAPandPDE4Din myocardial infarction and stroke: Target discovery and future treatment options

Hakon Hakonarson

Journal:

Current Treatment Options in Cardiovascular Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 579 KB

english, 2006

28

Duplication of 7q34 in Pediatric Low-Grade Astrocytomas Detected by High-Density Single-Nucleotide Polymorphism-Based Genotype Arrays Results in a Novel BRAF Fusion Gene

Angela J. Sievert, Eric M. Jackson, Xiaowu Gai, Hakon Hakonarson, Alexander R. Judkins, Adam C. Resnick, Leslie N. Sutton, Phillip B. Storm, Tamim H. Shaikh, Jaclyn A. Biegel

Journal:

Brain Pathology

Année:

2009

Langue:

english

Fichier:

PDF, 561 KB

english, 2009

29

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

Hakonarson, Hakon, Grant, Struan F. A., Bradfield, Jonathan P., Marchand, Luc, Kim, Cecilia E., Glessner, Joseph T., Grabs, Rosemarie, Casalunovo, Tracy, Taback, Shayne P., Frackelton, Edward C.

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 310 KB

english, 2007

30

Analysing biological pathways in genome-wide association studies

Wang, Kai, Li, Mingyao, Hakonarson, Hakon

Journal:

Nature Reviews Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 450 KB

english, 2010

31

Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies

Kai Wang, Samuel P. Dickson, Catherine A. Stolle, Ian D. Krantz, David B. Goldstein, Hakon Hakonarson

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 289 KB

english, 2010

32

Ndfip1 Regulates T Cell-mediated Gastrointestinal Inflammation and Susceptibility to Inflammatory Bowel Disease

Hilda Ramon, Christopher Riling, Baoli Yang, Hakon Hakonarson, Jonathan Bradfield, Paula Oliver

Journal:

Clinical Immunology

Année:

2010

Langue:

english

Fichier:

PDF, 39 KB

english, 2010

33

Ndfip1 Regulates T Cell-mediated Gastrointestinal Inflammation and Susceptibility to Inflammatory Bowel Disease

Hilda Ramon, Christopher Riling, Baoli Yang, Hakon Hakonarson, Jonathan Bradfield, Paula Oliver

Journal:

Clinical Immunology

Année:

2010

Langue:

english

Fichier:

PDF, 48 KB

english, 2010

34

Parental ADHD Status and its Association with Proband ADHD Subtype and Severity

Toshinobu Takeda, Kory Stotesbery, Thomas Power, Paul J. Ambrosini, Wade Berrettini, Hakon Hakonarson, Josephine Elia

Journal:

The Journal of Pediatrics

Année:

2010

Langue:

english

Fichier:

PDF, 122 KB

english, 2010

35

Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors

Margaret J. Dougherty, Laura S. Tooke, Lisa M. Sullivan, Hakon Hakonarson, Luanne M. Wainwright, Jaclyn A. Biegel

Journal:

Cancer Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 4.01 MB

english, 2012

36

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

Année:

2011

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2011

37

Strategies for Genetic Studies of Complex Diseases

Kai Wang, Maja Bucan, Struan F.A. Grant, Gerard Schellenberg, Hakon Hakonarson

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 75 KB

english, 2010

38

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

Année:

2009

Langue:

english

Fichier:

PDF, 239 KB

english, 2009

39

19-OR New directions in HLA and disease associations: The search beyond HLAs using genome-wide SNP-genotyping and next generation sequencing

Dimitri Monos, Tasha Fingerlin, Katarzyna Mackiewicz, Anna Papazoglou, Milton Rossman, Kenneth Rosenman, Jonathan Bradfield, Peggy Mroz, Lori Silveira, Hakon Hakonarson, Lisa Maier

Journal:

Human Immunology

Année:

2011

Langue:

english

Fichier:

PDF, 35 KB

english, 2011

40

105 Susceptibility locus for obstructive sleep apnea on Chr 20 – Preliminary results from an ongoing linkage study in Iceland

Thorarinn Gislason, Stefan Jonsson, Allan I. Pack, Bryndis Benediktsdottir, Eva Halapi, Hakon Hakonarson

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 42 KB

english, 2006

41

Fatty-acid binding protein 4 gene polymorphisms and plasma levels in children with obstructive sleep apnea

Bharat Bhushan, Abdelnaby Khalyfa, Karen Spruyt, Leila Kheirandish-Gozal, Oscar Sans Capdevila, Rakesh Bhattacharjee, Jinkwan Kim, Brendan Keating, Hakon Hakonarson, David Gozal

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 212 KB

english, 2011

42

Genome-wide association studies in type 1 diabetes, inflammatory bowel disease and other immune-mediated disorders

Hakon Hakonarson, Struan F.A. Grant

Journal:

Seminars in Immunology

Année:

2009

Langue:

english

Fichier:

PDF, 293 KB

english, 2009

43

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

Année:

2008

Langue:

english

Fichier:

PDF, 413 KB

english, 2008

44

Pulmonary function abnormalities in Prader-Willi syndrome

Hákon Hákonarson, Jay Moskovitz, Karen L. Daigle, Suzanne B. Cassidy, Michelle M. Cloutier

Journal:

The Journal of Pediatrics

Année:

1995

Langue:

english

Fichier:

PDF, 521 KB

english, 1995

45

Structural variations in attention-deficit hyperactivity disorder

Josephine Elia, Xaiowu Gai, Hakon Hakonarson, Peter S White

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 103 KB

english, 2011

46

Autocrine regulation of airway smooth muscle responsiveness

Hakon Hakonarson, Michael M. Grunstein

Journal:

Respiratory Physiology & Neurobiology

Année:

2003

Langue:

english

Fichier:

PDF, 401 KB

english, 2003

47

A Major Susceptibility Gene for Asthma Maps to Chromosome 14q24

Hakon Hakonarson, Unnur S. Bjornsdottir, Eva Halapi, Snaebjorn Palsson, Elva Adalsteinsdottir, David Gislason, Gudmundur Finnbogason, Thorarinn Gislason, Kristleifur Kristjansson, Thor Arnason, Illugi

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 2.30 MB

english, 2002

48

Copy Number Variation on Chromosome 10q26.3 for Obesity Identified by a Genome-Wide Study

Yang, Tie-Lin, Guo, Yan, Shen, Hui, Li, Jian, Glessner, Joseph T., Qiu, Chuan, Deng, Fei-Yan, Tian, Qing, Yu, Ping, Liu, Yao-Zhong, Liu, Yong-Jun, Hakonarson, Hakon, Grant, Struan F. A., Deng, Hong-We

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 78 KB

english, 2013

49

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

Année:

2012

Langue:

english

Fichier:

PDF, 211 KB

english, 2012

50

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

Année:

2012

Langue:

english

Fichier:

PDF, 2.34 MB

english, 2012