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Author Details

Diana L Cousminer
Children's Hospital of Philadelphia
2010
57
29
PMIDPaper TitleJournal TitlePublished Year
37503126Understanding the genetic complexity of puberty timing across the allele frequency spectrum.medRxiv2023
35291947Using linear and natural cubic splines, SITAR, and latent trajectory models to characterise nonlinear longitudinal growth trajectories in cohort studies.BMC Med Res Methodol2022
33069917Variant-to-Gene-Mapping Analyses Reveal a Role for the Hypothalamus in Genetic Susceptibility to Inflammatory Bowel Disease.Cell Mol Gastroenterol Hepatol2021
335452323D promoter architecture re-organization during iPSC-derived neuronal cell differentiation implicates target genes for neurodevelopmental disorders.Prog Neurobiol2021
34754074CYP11B1 variants influence skeletal maturation via alternative splicing.Commun Biol2021
34799566Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits.Nat Commun2021
34021356Large trans-ethnic meta-analysis identifies AKR1C4 as a novel gene associated with age at menarche.Hum Reprod2021
33459256Biological constraints on GWAS SNPs at suggestive significance thresholds reveal additional BMI loci.Elife2021
33397451Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual.Genome Biol2021
32340472Genetically Determined Birthweight Associates With Atrial Fibrillation: A Mendelian Randomization Study.Circ Genom Precis Med2020
31843946Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC.Diabetes Care2020
31790847Genetic variants affecting bone mineral density and bone mineral content at multiple skeletal sites in Hispanic children.Bone2020
33159065Publisher Correction: Regulation of cellular sterol homeostasis by the oxygen responsive noncoding RNA lincNORS.Nat Commun2020
33045005Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits.PLoS Genet2020
33153676Insights into the Genetic Underpinnings of Endocrine Traits from Large-Scale Genome-Wide Association Studies.Endocrinol Metab Clin North Am2020
32886111Genetics of early growth traits.Hum Mol Genet2020
32958772Regulation of cellular sterol homeostasis by the oxygen responsive noncoding RNA lincNORS.Nat Commun2020
30711642Postmenopausal osteoporotic fracture-associated COLIA1 variant impacts bone accretion in girls.Bone2019
31840077GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI.Sci Adv2019
29068475Genetically Determined Later Puberty Impacts Lowered Bone Mineral Density in Childhood and Adulthood.J Bone Miner Res2018
30134862Relevance of polymorphisms in MC4R and BDNF in short normal stature.BMC Pediatr2018
30254083First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.Diabetes Care2018
30041834A Global Perspective of Latent Autoimmune Diabetes in Adults.Trends Endocrinol Metab2018
30526863Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.Am J Hum Genet2018
30297970Public resources aid diabetes gene discovery.Nat Genet2018
30397339Author Correction: Public resources aid diabetes gene discovery.Nat Genet2018
29465475Physical Activity and Bone Accretion: Isotemporal Modeling and Genetic Interactions.Med Sci Sports Exerc2018
29240982Multidimensional Bone Density Phenotyping Reveals New Insights Into Genetic Regulation of the Pediatric Skeleton.J Bone Miner Res2018
27419386Relative Skeletal Maturation and Population Ancestry in Nonobese Children and Adolescents.J Bone Miner Res2017
28438156Relative contribution of type 1 and type 2 diabetes loci to the genetic etiology of adult-onset, non-insulin-requiring autoimmune diabetes.BMC Med2017
28436984Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.Nat Genet2017
28181694A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites.J Bone Miner Res2017
28672287Association Between Linear Growth and Bone Accrual in a Diverse Cohort of Children and Adolescents.JAMA Pediatr2017
28757204Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.Am J Hum Genet2017
26970088Rare EN1 Variants and Pediatric Bone Mass.J Bone Miner Res2016
26574646The genetics of pubertal timing in the general population: recent advances and evidence for sex-specificity.Curr Opin Endocrinol Diabetes Obes2016
26604143Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.Hum Mol Genet2016
27616605Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.Bone2016
27680694Genome-wide associations for birth weight and correlations with adult disease.Nature2016
27579163Genetics of pediatric bone strength.Bonekey Rep2016
26833246New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.Nat Commun2016
26698568Sex-specific regulation of weight and puberty by the Lin28/let-7 axis.J Endocrinol2016
25281659A novel common variant in DCST2 is associated with length in early life and height in adulthood.Hum Mol Genet2015
26030606Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty.PLoS One2015
24770850Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.Hum Mol Genet2014
25231870Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.Nature2014
23202124New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.Nat Genet2013
23449627Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.Hum Mol Genet2013
23558354Association of adiposity genetic variants with menarche timing in 92,105 women of European descent.Am J Epidemiol2013
21173776Meta-analysis of genome-wide association studies for personality.Mol Psychiatry2012
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Collaborators

Struan F A Grant
Center for Spatial and Functional Genomics, The Children's Hospital of Philadelphia
Co-authored papers 41
Elisabeth Widen
Co-authored papers 23
Alessandra Chesi
Center for Spatial and Functional Genomics, The Children's Hospital of Philadelphia
Co-authored papers 20
Babette S Zemel
Children's Hospital of Philadelphia
Co-authored papers 19
Andr?? G Uitterlinden
Erasmus University Medical Center
Co-authored papers 18
Johan G Eriksson
Co-authored papers 18
Jonathan P Bradfield
Co-authored papers 17
Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 17
Dorret I Boomsma
Co-authored papers 16
Marjo-Riitta Järvelin
Co-authored papers 16
Nicholas J Timpson
Co-authored papers 16
Fernando Rivadeneira
University Medical Center Rotterdam
Co-authored papers 16
Susan M Ring
Bristol Medical School, University of Bristol
Co-authored papers 14
Aarno Palotie
Co-authored papers 14
Jonathan A Mitchell
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 13
Mark I McCarthy
Co-authored papers 13
George Davey Smith
University of Bristol
Co-authored papers 13
Albert Hofman
Harvard T.H. Chan School of Public Health
Co-authored papers 13
Cornelia M van Duijn
University of Oxford
Co-authored papers 13
Shana E McCormack
The Children's Hospital of Philadelphia Division of Endocrinology and Diabetes
Co-authored papers 12
Jouke-Jan Hottenga
Co-authored papers 12
Anneli Pouta
Co-authored papers 11
Ulla Sovio
Co-authored papers 11
Ken K Ong
Co-authored papers 10
Joan M Lappe
Creighton University Medical Center
Co-authored papers 10
Andrea Kelly
The Children's Hospital of Philadelphia
Co-authored papers 10
John R B Perry
Co-authored papers 10
Olli T Raitakari
Co-authored papers 10
Vicente Gilsanz
Center for Endocrinology, Children's Hospital Los Angeles
Co-authored papers 10
Heidi J Kalkwarf
Cincinnati Children's Hospital Medical Center Cincinnati
Co-authored papers 10
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