R. Chiavacci

发表

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

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2007, Nature.

Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21.

Raquel E Gur, Ruben C Gur, James Loughead, 2012, Neuropsychology.

An MRI Study of Neurological Injury Before and After Congenital Heart Surgery

Robert A. Zimmerman, Gil Wernovsky, Robert R. Clancy, 2002, Circulation.

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

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

Follow-Up Analysis of Genome-Wide Association Data Identifies Novel Loci for Type 1 Diabetes

Joseph T. Glessner, Ryan M. Smith, J. Glessner, 2009, Diabetes.

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Simon C. Potter, Joseph T. Glessner, M. Pirinen, 2011, 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.

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

Michael J Ackerman, Joshua C Denny, Dan M Roden, 2016, JAMA.

The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative.

Kosha Ruparel, Theodore D Satterthwaite, David R Roalf, 2015, Journal of child psychology and psychiatry, and allied disciplines.

An Evaluation of a Noninvasive Cardiac Output Measurement Using Partial Carbon Dioxide Rebreathing in Children

V. Nadkarni, R. Chiavacci, S. Nicolson, 2004, Anesthesia and analgesia.

Association Analysis of the FTO Gene with Obesity in Children of Caucasian and African Ancestry Reveals a Common Tagging SNP

Struan F. A. Grant, Joseph T. Glessner, Hakon Hakonarson, 2008, PloS one.

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.

A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study

Constantin Polychronakos, Luc Marchand, Margaret L. Lawson, 2008, Diabetes.

A Study of Lidocaine Iontophoresis for Pediatric Venipuncture

R. Chiavacci, J. Galinkin, J. Rose, 2002, Anesthesia and analgesia.

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.

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.

Tonsillectomy by means of plasma-mediated ablation: prospective, randomized, blinded comparison with monopolar electrosurgery.

R. Chiavacci, U. Shah, J. Galinkin, 2002, Archives of otolaryngology--head & neck surgery.

Body mass index (BMI) trajectories in infancy differ by population ancestry and may presage disparities in early childhood obesity.

H. Hakonarson, S. Grant, R. Chiavacci, 2015, The Journal of clinical endocrinology and metabolism.

Common variants at 12q15 and 12q24 are associated with infant head circumference

Aad van der Lugt, Xavier Estivill, Sudha Seshadri, 2012, Nature Genetics.

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

Constantin Polychronakos, Yiran Guo, Dong Li, 2016 .

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism

H. Hakonarson, Cecilia Kim, R. Chiavacci, 2016, BMC Urology.

Common variants at 5q22 associate with pediatric eosinophilic esophagitis

Joseph T. Glessner, Lisa J. Martin, J. Glessner, 2010, Nature Genetics.

Rofecoxib administration to paediatric patients undergoing adenotonsillectomy

R. Chiavacci, P. Sheeran, J. Rose, 2004, Paediatric anaesthesia.

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.

Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease

H. Hakonarson, Cecilia Kim, S. Grant, 2013, Genes and Immunity.

A Liberalized Fasting Guideline for Formula-Fed Infants Does Not Increase Average Gastric Fluid Volume Before Elective Surgery

R. Chiavacci, W. Greeley, M. Schreiner, 2003, Anesthesia and analgesia.

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.

Role of BMI‐Associated Loci Identified in GWAS Meta‐Analyses in the Context of Common Childhood Obesity in European Americans

Joseph T. Glessner, Hakon Hakonarson, J. Glessner, 2011, Obesity.

The Role of Obesity‐associated Loci Identified in Genome‐wide Association Studies in the Determination of Pediatric BMI

Joseph T. Glessner, Ryan M. Smith, J. Glessner, 2009, Obesity.

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

Joseph T. Glessner, Hakon Hakonarson, J. Glessner, 2009, The Journal of pediatrics.

A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci

Constantin Polychronakos, Struan F. A. Grant, Joseph T. Glessner, 2011, PLoS genetics.

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

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

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

Marni J. Falk, H. Hakonarson, Cecilia Kim, 2016, Case reports in genetics.

Examination of genetic variants influencing lipid traits in pediatric populations

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

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.

Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Hongzhe Li, Constantin Polychronakos, Yiran Guo, 2015, Nature Communications.

Comorbidity of Physical and Mental Disorders in the Neurodevelopmental Genomics Cohort Study

Kosha Ruparel, Ruben C. Gur, Raquel E. Gur, 2015, Pediatrics.

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

Marni J. Falk, H. Hakonarson, R. Chiavacci, 2016, American journal of human genetics.

Association of HMGA2 Gene Variation with Height in Specific Pediatric Age Categories

Ryan M. Smith, J. Glessner, H. Hakonarson, 2008 .

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Xiaowu Gai, Laura K Conlin, Livija Medne, 2009, Genome research.

applications the human genome : A data resource for clinical and research High-resolution mapping and analysis of copy number variations in Material Supplemental

Joseph T. Glessner, Ryan M. Smith, E. Zackai, 2009 .

Use of Intranasal Fentanyl in Children Undergoing Myringotomy and Tube Placement during Halothane and Sevoflurane Anesthesia

R. Chiavacci, C. D. Kurth, I. Jacobs, 2000, Anesthesiology.

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.

Investigation of the Locus Near MC4R With Childhood Obesity in Americans of European and African Ancestry

Joseph T. Glessner, Ryan M. Smith, J. Glessner, 2009, Obesity.

Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.

Hakon Hakonarson, J. Glessner, H. Hakonarson, 2008, Arthritis and rheumatism.

Variants of DENND1B associated with asthma in children.

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

Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling

R. Chiavacci, A. Zuppa, Y. Li, 2018, Nature Communications.

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

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

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

H. Hakonarson, R. Chiavacci, C. Seiler, 2019, Nature Medicine.

Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.

H. Hakonarson, Cecilia Kim, R. Chiavacci, 2015, Human reproduction.

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Marni J. Falk, Nathan R. Wilson, E. Zackai, 2014, Journal of Medical Genetics.

Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease

Joseph T. Glessner, Hakon Hakonarson, Ryan M. Smith, 2008, Nature Genetics.

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.

BMD‐Associated Variation at the Osterix Locus Is Correlated With Childhood Obesity in Females

J. Glessner, H. Hakonarson, Cecilia Kim, 2011, Obesity.

Common variants at 12q15 and 12q24 are associated with infant head circumference

Aad van der Lugt, Xavier Estivill, Sudha Seshadri, 2013, Nature Genetics.

The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth

Mark A. Elliott, David R. Roalf, Kosha Ruparel, 2016, NeuroImage.

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 .

The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort

Kosha Ruparel, Theodore D Satterthwaite, Tyler M Moore, 2014, World psychiatry : official journal of the World Psychiatric Association.

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

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

Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn’s disease

Joseph T. Glessner, Ryan M. Smith, J. Glessner, 2007, Gut.

ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry.

Ryan M. Smith, J. Glessner, Cecilia Kim, 2008, The Journal of allergy and clinical immunology.

17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry.

Joseph T. Glessner, Ryan M. Smith, J. Glessner, 2009, The Journal of allergy and clinical immunology.

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

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

Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry

Joseph T. Glessner, Ryan M. Smith, J. Glessner, 2008, The application of clinical genetics.

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.

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

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

Serum myoinositol concentrations in premature infants fed human milk, formula for infants, and parenteral nutrition.

R. Chiavacci, G. Pereira, J. Egler, 1990, The American journal of clinical nutrition.

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.

H. Hakonarson, Cecilia Kim, R. Chiavacci, 2015, The Journal of urology.

Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease.

Joseph T. Glessner, Ryan M. Smith, J. Glessner, 2007, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

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.

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

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

Gene Network Analysis in a Pediatric Cohort Identifies Novel Lung Function Genes

H. Hakonarson, Cecilia Kim, R. Chiavacci, 2012, PloS one.

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.

Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21.

John J. Connolly, H. Hakonarson, R. Gur, 2012, Neuropsychology.

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

Marni J. Falk, H. Hakonarson, R. Chiavacci, 2016, American journal of human genetics.

When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority.

Melissa A. Basford, John A. Lynch, Terrie E. Kitchner, 2016, The Journal of pediatrics.

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.

Characterization of Eosinophilic Esophagitis Murine Models Using Optical Coherence Tomography References and Links

R. D. Ferguson, J. Glessner, H. Hakonarson, 2022 .

The Role of Obesity‐associated Loci Identified in Genome‐wide Association Studies in the Determination of Pediatric BMI

Ryan M. Smith, J. Glessner, H. Hakonarson, 2009, Obesity.

Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry

Ryan M. Smith, J. Glessner, H. Hakonarson, 2008, The application of clinical genetics.

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.