C. Hou

发表

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Robert T. Schultz, Margaret A. Pericak-Vance, Takeshi Sakurai, 2009, Nature.

From Disease Association to Risk Assessment: An Optimistic View from Genome-Wide Association Studies on Type 1 Diabetes

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2009, PLoS genetics.

Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease.

David C. Wilson, Joseph T. Glessner, J. Glessner, 2009, American journal of human genetics.

Identification of ALK as a major familial neuroblastoma predisposition gene

John M. Maris, Nicholas J. Schork, Ali Torkamani, 2008, Nature.

Mitochondrial DNA haplogroups and susceptibility to neuroblastoma.

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2020, Journal of the National Cancer Institute.

Copy number variation at 1q21.1 associated with neuroblastoma

Sharon J. Diskin, John M. Maris, Struan F. A. Grant, 2009, Nature.

Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.

Nazneen Rahman, Joseph T. Glessner, Hakon Hakonarson, 2008, The New England journal of medicine.

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

Yiran Guo, Joseph T. Glessner, Hakon Hakonarson, 2013, Human molecular genetics.

Common variants at five new loci associated with early-onset inflammatory bowel disease

Johan Van Limbergen, David C Wilson, David C. Wilson, 2009, Nature Genetics.

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Marni J. Falk, H. Hakonarson, Cecilia Kim, 2014, JIMD reports.

No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics.

Jianxin Shi, Pablo V Gejman, Jubao Duan, 2008, The American journal of psychiatry.

Design and Implementation of the International Genetics and Translational Research in Transplantation Network

Graham M Lord, Jason H. Moore, W. Guan, 2015, Transplantation.

Strong synaptic transmission impact by copy number variations in schizophrenia

Raquel E. Gur, Mark Weiser, Muredach P. Reilly, 2010, Proceedings of the National Academy of Sciences.

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

E. Zackai, H. Hakonarson, D. Slater, 2021, American journal of medical genetics. Part A.

Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis

J. Glessner, H. Hakonarson, B. Lie, 2022, Arthritis & rheumatology.

Integrative Genetics Analysis of Juvenile Idiopathic Arthritis Identifies Novel Loci

John J. Connolly, Joseph T. Glessner, Debra K. Shivers, 2020, medRxiv.

DTNBP1 (Dystrobrevin Binding Protein 1) and Schizophrenia: Association Evidence in the 3′ End of the Gene

Maria Martinez, J. Duan, A. Sanders, 2007, Human Heredity.

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

E. Zackai, H. Hakonarson, L. Conlin, 2022, Molecular cytogenetics.

Loss‐of‐Function Mutations in KIF15 Underlying a Braddock–Carey Genocopy

H. Hakonarson, L. Tian, R. Pellegrino, 2017, Human mutation.

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

Constantin Polychronakos, Yiran Guo, Dong Li, 2016 .

Erratum: Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy (Genome Research (2009) 19 (276-283))

Marc A. Attiyeh, Sharon J. Diskin, John M. Maris, 2009 .

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study

John J. Connolly, H. Hakonarson, Cecilia Kim, 2016, BMC Musculoskeletal Disorders.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Yiran Guo, Dong Li, Hakon Hakonarson, 2013, American journal of human genetics.

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

H. Hakonarson, Cecilia Kim, E. Toskala, 2013, Genome Medicine.

Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2017, Nature Communications.

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

Nazneen Rahman, Sharon J. Diskin, John M. Maris, 2009, Nature Genetics.

Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.

Constantin Polychronakos, David C Wilson, Joseph T. Glessner, 2010, Human molecular genetics.

Further supporting SMARCC2‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients

E. Zackai, H. Hakonarson, C. Hou, 2021, American journal of medical genetics. Part A.

Whole-genome sequencing in an autism multiplex family

Gholson J Lyon, Hakon Hakonarson, Cuiping Hou, 2013, Molecular Autism.

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Robert T. Schultz, Takeshi Sakurai, Joseph Piven, 2009, Nature.

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Susanne Walitza, Aribert Rothenberger, Takeshi Sakurai, 2011, Nature Genetics.

Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample.

Pablo V Gejman, Jubao Duan, Robert Freedman, 2006, American journal of human genetics.

Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies

Marylyn D. Ritchie, Shefali S. Verma, Kelly A. Birdwell, 2015, Genome Medicine.

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

H. Hakonarson, N. Rahman, M. Devoto, 2017, PLoS genetics.

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

Nazneen Rahman, Sharon J. Diskin, John M. Maris, 2011, Nature.

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

H. Hakonarson, F. Mentch, R. Pellegrino, 2018, Journal of Medical Genetics.

Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity.

H. Hakonarson, K. Cole, Eva Dizin, 2012, Cancer research.

Therapeutics , Targets , and Chemical Biology Common Variation at BARD 1 Results in the Expression of an Oncogenic Isoform That In fl uences Neuroblastoma Susceptibility and Oncogenicity

H. Hakonarson, K. Cole, Eva Dizin, 2012 .

Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia

J. Duan, A. Sanders, P. Gejman, 2005, Molecular Psychiatry.

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

H. Hakonarson, K. Cole, M. Devoto, 2012, Nature Genetics.

Examination of genetic variants influencing lipid traits in pediatric populations

Joseph T. Glessner, Alexa J Moy, J. Glessner, 2012, Journal of Pediatric Genetics.

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy.

Marc A. Attiyeh, Sharon J. Diskin, John M. Maris, 2008, Genome research.

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Joseph T. Glessner, Frank D. Mentch, Hakon Hakonarson, 2015, The Journal of Immunology.

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

Sharon J. Diskin, John M. Maris, Joseph T. Glessner, 2008, Nucleic acids research.

A missense mutation in ANKRD26 segregates with thrombocytopenia.

H. Hakonarson, Cecilia Kim, P. Sleiman, 2013, Blood.

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.

Dong Li, Hakon Hakonarson, Cuiping Hou, 2014, The Journal of clinical endocrinology and metabolism.

Polymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophrenia.

Pablo V Gejman, Jubao Duan, Naruya Saitou, 2004, American journal of human genetics.

A genome-wide study reveals copy number variants exclusive to childhood obesity cases.

Hakon Hakonarson, Cuiping Hou, J. Glessner, 2010, American journal of human genetics.

The missense variation landscape of FTO, MC4R and TMEM18 in obese children of African ancestry

J. Glessner, H. Hakonarson, Cecilia Kim, 2012, Obesity.

Variants of DENND1B associated with asthma in children.

Ingo Ruczinski, James Flory, Terri H Beaty, 2010, The New England journal of medicine.

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

H. Hakonarson, R. Chiavacci, C. Seiler, 2018, Human molecular genetics.

Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.

Joseph T. Glessner, Ivan K. Chinn, J. Glessner, 2016, The Journal of allergy and clinical immunology.

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

H. Hakonarson, Cecilia Kim, J. Bradfield, 2013, Genome Medicine.

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

H. Hakonarson, Cecilia Kim, C. Hou, 2016, The Journal of clinical endocrinology and metabolism.

Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

H. Hakonarson, Cecilia Kim, Yiran Guo, 2017, Scientific Reports.

A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

John J. Connolly, I. Ntalla, E. Zeggini, 2017, Scientific Reports.

Rare variants at 16p11.2 are associated with common variable immunodeficiency.

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2015, The Journal of allergy and clinical immunology.

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

H. Hakonarson, D. Slater, Erum A. Hartung, 2021, American journal of medical genetics. Part A.

Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa.

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2019, Journal of psychiatric research.

Immune deficiencies , infection , and systemic immune disorders Genome-wide association identifies diverse causes of common variable immunodeficiency

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2011 .

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

Joseph T. Glessner, Debra K. Shivers, J. Glessner, 2016, BMC Medical Genetics.

Cadmium Accumulation and Tolerance of Two Safflower Cultivars in Relation to Photosynthesis and Antioxidantive Enzymes

C. Hou, G. Shi, Q. Cai, 2010, Bulletin of environmental contamination and toxicology.

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

H. Hakonarson, Cecilia Kim, Yiran Guo, 2014, JIMD reports.

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

Joseph T. Glessner, Bradley P. Coe, B. Coe, 2020, Nature Communications.

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

I. Krantz, H. Hakonarson, D. Slater, 2023, JCI insight.

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

B. Coe, E. Eichler, J. Glessner, 2020, Nature Communications.

Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2017, Nature Communications.

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

J. Glessner, H. Qu, D. Slater, 2023, Genes.

Genome-Wide Association Study of Serum Minerals Levels in Children of Different Ethnic Background

H. Hakonarson, Cecilia Kim, Yiran Guo, 2015, PloS one.

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

John J. Connolly, H. Hakonarson, Cecilia Kim, 2016, BMC Musculoskeletal Disorders.

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

J. Glessner, H. Hakonarson, Cecilia Kim, 2010, BMC Medical Genetics.

Examination of All Type 2 Diabetes GWAS Loci Reveals HHEX-IDE as a Locus Influencing Pediatric BMI

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2009, Diabetes.

Neuregulin 1 (NRG1) and schizophrenia: analysis of a US family sample and the evidence in the balance

Maria Martinez, J. Duan, A. Sanders, 2005, Psychological Medicine.

Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2015, Scientific Reports.

Examination of Type 2 Diabetes Loci Implicates CDKAL1 as a Birth Weight Gene

Joseph T. Glessner, Hakon Hakonarson, Patrick Sleiman, 2009, Diabetes.

Genomic profiling informs diagnoses and treatment in vascular anomalies

H. Hakonarson, J. Treat, C. Seiler, 2023, Nature Medicine.

Rare variants at 16p11.2 are associated with common variable immunodeficiency.

J. Glessner, H. Hakonarson, Cecilia Kim, 2015, The Journal of allergy and clinical immunology.

Genome-wide association identifies diverse causes of common variable immunodeficiency.

J. Glessner, H. Hakonarson, Cecilia Kim, 2011, The Journal of allergy and clinical immunology.

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

John J. Connolly, J. Glessner, H. Hakonarson, 2015, Nature Medicine.

Genome-Wide Association Study of Serum Minerals Levels in Children of Different Ethnic Background

H. Hakonarson, Cecilia Kim, Yiran Guo, 2015, PloS one.

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

J. Glessner, H. Hakonarson, Cecilia Kim, 2015, Nature Medicine.

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

John J. Connolly, J. Glessner, H. Hakonarson, 2015, Nature Medicine.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.