Author details

Full Name

Cecilia E Kim

Affiliation

ORCID

Career Start Year

1999

Papers

112

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
29364557	Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.	Exp Dermatol	2019
29540468	Genetic Reduction in Left Ventricular Protein Kinase C-Î± and Adverse Ventricular Remodeling in Human Subjects.	Circ Genom Precis Med	2018
28971234	A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.	Osteoporos Int	2018
30254083	First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.	Diabetes Care	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
28323927	Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.	J Clin Endocrinol Metab	2017
28924153	Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.	Nat Commun	2017
27769252	Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.	BMC Urol	2016
27104816	Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease.	Inflamm Bowel Dis	2016
26879370	Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.	BMC Musculoskelet Disord	2016
27010479	Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia.	PLoS One	2016
26963954	Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.	J Clin Endocrinol Metab	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
26704054	Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.	J Thorac Cardiovasc Surg	2016
27829420	Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.	BMC Musculoskelet Disord	2016
25138779	Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.	Hum Mol Genet	2015
25886283	Genome-wide association study of serum minerals levels in children of different ethnic background.	PLoS One	2015
25390077	Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.	J Urol	2015
25678086	Rare variants at 16p11.2 are associated with common variable immunodeficiency.	J Allergy Clin Immunol	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
26111080	Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.	Am J Med Genet A	2015
26450413	Genetic sharing and heritability of paediatric age of onset autoimmune diseases.	Nat Commun	2015
26685716	Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children.	Sci Rep	2015
24927284	The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.	Nat Commun	2014
24467814	Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.	Mol Autism	2014
24973975	Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.	JIMD Rep	2014
24515575	AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.	JIMD Rep	2014
23731541	Large sample size, wide variant spectrum, and advanced machine-learning technique boost risk prediction for inflammatory bowel disease.	Am J Hum Genet	2013
23869080	A missense mutation in ANKRD26 segregates with thrombocytopenia.	Blood	2013
24023788	Gene network analysis in a pediatric cohort identifies novel lung function genes.	PLoS One	2013
23889995	Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.	Genome Med	2013
23965943	Targeted resequencing identifies defective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease.	Genes Immun	2013
23597238	Whole-genome sequencing in an autism multiplex family.	Mol Autism	2013
23263863	GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.	Hum Mol Genet	2013
23382853	Copy number variations in alternative splicing gene networks impact lifespan.	PLoS One	2013
23341896	Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.	PLoS One	2013
23505181	The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.	Obesity (Silver Spring)	2013
23731542	Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.	Am J Hum Genet	2013
21996756	A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.	Hum Genet	2012
27625808	Examination of genetic variants influencing lipid traits in pediatric populations.	J Pediatr Genet	2012
22843504	Individual common variants exert weak effects on the risk for autism spectrum disorders.	Hum Mol Genet	2012
22504419	Common variants at 12q15 and 12q24 are associated with infant head circumference.	Nat Genet	2012
22295056	Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma.	PLoS One	2012
22454397	Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.	Hum Mol Genet	2012
22138692	Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.	Nat Genet	2011