Author details

Full Name

Rosetta M Chiavacci

Affiliation

ORCID

Career Start Year

1990

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
31937769	Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.	Nat Commun	2020
31263281	ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.	Nat Med	2019
29339723	Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling.	Nat Commun	2018
29905864	Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.	Hum Mol Genet	2018
28827695	Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.	Sci Rep	2017
28630421	A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.	Sci Rep	2017
27769252	Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.	BMC Urol	2016
25840117	The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.	Neuroimage	2016
26746457	Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.	JAMA	2016
26879370	Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.	BMC Musculoskelet Disord	2016
27005825	Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.	BMC Med Genet	2016
27069701	Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.	Case Rep Genet	2016
27616483	GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.	Am J Hum Genet	2016
27829420	Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.	BMC Musculoskelet Disord	2016
26450413	Genetic sharing and heritability of paediatric age of onset autoimmune diseases.	Nat Commun	2015
25755242	Comorbidity of physical and mental disorders in the neurodevelopmental genomics cohort study.	Pediatrics	2015
25636051	Body mass index (BMI) trajectories in infancy differ by population ancestry and may presage disparities in early childhood obesity.	J Clin Endocrinol Metab	2015
25412741	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.	J Med Genet	2015
25858255	The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative.	J Child Psychol Psychiatry	2015
25390077	Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.	J Urol	2015
26188062	Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.	J Immunol	2015
26301688	Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.	Nat Med	2015
26209787	Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.	Hum Reprod	2015
24515575	AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.	JIMD Rep	2014
25273303	The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort.	World Psychiatry	2014
24973975	Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.	JIMD Rep	2014
23505181	The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.	Obesity (Silver Spring)	2013
24023788	Gene network analysis in a pediatric cohort identifies novel lung function genes.	PLoS One	2013
23965943	Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease.	Genes Immun	2013
23263863	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hum Mol Genet	2013
22251308	Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21.	Neuropsychology	2012
27625808	Examination of genetic variants influencing lipid traits in pediatric populations.	J Pediatr Genet	2012
22504419	Common variants at 12q15 and 12q24 are associated with infant head circumference.	Nat Genet	2012
22138692	Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.	Nat Genet	2011
21212767	BMD-associated variation at the Osterix locus is correlated with childhood obesity in females.	Obesity (Silver Spring)	2011
21124317	Integrative genomics identifies LMO1 as a neuroblastoma oncogene.	Nature	2011
21497890	Genome-wide association identifies diverse causes of common variable immunodeficiency.	J Allergy Clin Immunol	2011
21833088	Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.	Nature	2011
21980299	A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.	PLoS Genet	2011
21779088	Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans.	Obesity (Silver Spring)	2011
20489179	Strong synaptic transmission impact by copy number variations in schizophrenia.	Proc Natl Acad Sci U S A	2010
20950786	A genome-wide study reveals copy number variants exclusive to childhood obesity cases.	Am J Hum Genet	2010
19933996	Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.	Diabetes	2010
20208534	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Nat Genet	2010
20546612	The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.	BMC Med Genet	2010
18840781	Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.	Diabetes	2009
23776345	Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.	Appl Clin Genet	2009
19592680	High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.	Genome Res	2009
19592620	Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene.	Diabetes	2009
19265794	Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry.	Obesity (Silver Spring)	2009