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JENNIFER POSEY
Concepts (522)
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Concepts are derived automatically from a person's publications.
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Categories
Timeline
Details
In this concept 'cloud', the sizes of the concepts are based not only on the number of corresponding publications, but also how relevant the concepts are to the overall topics of the publications, how long ago the publications were written, whether the person was the first or senior author, and how many other people have written about the same topic. The largest concepts are those that are most unique to this person.
14-3-3 Proteins
46, XX Disorders of Sex Development
46, XX Testicular Disorders of Sex Development
Abnormalities, Multiple
Actins
ADAMTS Proteins
Adaptor Proteins, Signal Transducing
Adaptor Proteins, Vesicular Transport
Adenosine Triphosphatases
Adolescent
Adult
Age of Onset
Aged
Agenesis of Corpus Callosum
Algorithms
AlkB Homolog 8, tRNA Methyltransferase
Alleles
Alopecia
Alu Elements
Amines
Amino Acid Sequence
Amino Acid Substitution
Amino Acids
Amish
AMP-Activated Protein Kinases
Animals
Animals, Genetically Modified
Ankyrins
Anodontia
Antigens, Neoplasm
Antigens, Nuclear
Apnea
Apoptosis
Apyrase
Arabs
Arginine
Arteries
Arthrogryposis
Ataxia
ATPases Associated with Diverse Cellular Activities
Atrial Fibrillation
Atrioventricular Block
Atrophy
Attention Deficit Disorder with Hyperactivity
Autism Spectrum Disorder
Autistic Disorder
Autoantibodies
Autoimmunity
Autophagy
Axons
Base Sequence
Basic Helix-Loop-Helix Transcription Factors
Bile Acids and Salts
Binding Sites
Biological Variation, Population
Blepharophimosis
B-Lymphocytes
Bone and Bones
Bone Development
Bone Diseases, Metabolic
Bone Morphogenetic Protein 4
Bone Morphogenetic Protein 7
Bone Morphogenetic Proteins
Brain
Brain Diseases
BRCA1 Protein
Caenorhabditis elegans
Calcium Channels
Calpain
Cardiomyopathies
Carrier Proteins
Catalysis
Cataract
Cation Transport Proteins
CDC2 Protein Kinase
Cell Adhesion Molecules
Cell Cycle
Cell Cycle Proteins
Cell Line
Cell Line, Tumor
Cell Movement
Cell Polarity
Central Nervous System
Centrosome
Cerebellar Ataxia
Cerebellar Diseases
Cerebellum
Cerebral Cortex
Cerebral Palsy
Charcot-Marie-Tooth Disease
Child
Child, Preschool
Chile
China
CHO Cells
Choline
Chondrodysplasia Punctata
Chromosomal Proteins, Non-Histone
Chromosome Aberrations
Chromosome Banding
Chromosome Deletion
Chromosome Duplication
Chromosome Segregation
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 5
Classical Lissencephalies and Subcortical Band Heterotopias
Cleft Lip
Cleft Palate
Clinical Competence
Clinical Laboratory Techniques
Codon, Nonsense
Codon, Terminator
Cognition
Cohort Studies
Colon
Comparative Genomic Hybridization
Computational Biology
Congenital Abnormalities
Congenital Disorders of Glycosylation
Connectin
Consanguinity
Conserved Sequence
Contracture
Corpus Callosum
Craniofacial Abnormalities
Cricetinae
Cricetulus
Cross-Sectional Studies
Cytoskeletal Proteins
Data Mining
Databases, Factual
Databases, Genetic
De Lange Syndrome
DEAD-box RNA Helicases
Deafness
Death, Sudden, Cardiac
Democratic Republic of the Congo
Demyelinating Diseases
Developmental Disabilities
Diabetes Mellitus, Type 1
Diabetes Mellitus, Type 2
Diagnosis, Computer-Assisted
Diagnosis, Differential
Dichlorodiphenyl Dichloroethylene
Disease
Disease Management
Disease Models, Animal
DNA
DNA Breaks, Double-Stranded
DNA Copy Number Variations
DNA Damage
DNA Helicases
DNA Mutational Analysis
DNA Repair
DNA Transposable Elements
DNA-Binding Proteins
Drosophila
Drosophila melanogaster
Dwarfism
Dysarthria
Dystonia
Echocardiography
Eczema
Egypt
Electrocardiography
Electroencephalography
Embryo, Mammalian
Embryonic Development
Endoribonucleases
Endothelial Cells
Epilepsy
Epilepsy, Generalized
Epithelium
Essential Hypertension
Esterification
Ethanolamine
Evidence-Based Medicine
Evolution, Molecular
Exome
Exons
Exosome Multienzyme Ribonuclease Complex
Extracellular Matrix
Extracellular Matrix Proteins
Eye Abnormalities
Face
Facies
Failure to Thrive
Family
Female
Fibrillar Collagens
Fibrillin-1
Fibroblasts
Fingers
Finland
Focal Adhesion Protein-Tyrosine Kinases
Founder Effect
Frameshift Mutation
Gene Dosage
Gene Expression
Gene Expression Regulation
Gene Frequency
Gene Rearrangement
Genes, Dominant
Genes, Recessive
Genes, Reporter
Genes, X-Linked
Genetic Association Studies
Genetic Counseling
Genetic Diseases, Inborn
Genetic Heterogeneity
Genetic Linkage
Genetic Loci
Genetic Markers
Genetic Pleiotropy
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Genome, Human
Genome-Wide Association Study
Genomic Instability
Genomics
Genotype
Genotyping Techniques
Gestational Age
Glucose
Glutamine
Glycogen
Glycosylation
GPI-Linked Proteins
Growth Disorders
GTP-Binding Protein beta Subunits
Guanine Nucleotide Exchange Factors
Hand Deformities, Congenital
Haploinsufficiency
Haplotypes
Hearing Loss, Sensorineural
Heart Atria
Heart Defects, Congenital
Hedgehog Proteins
HEK293 Cells
Hereditary Sensory and Autonomic Neuropathies
Hernias, Diaphragmatic, Congenital
Heterotaxy Syndrome
Heterozygote
High-Throughput Nucleotide Sequencing
Hip Dislocation
Hirschsprung Disease
Histidine
Histone Deacetylases
Homeodomain Proteins
Homozygote
Humans
Hyaluronoglucosaminidase
Hyperparathyroidism
Hypogonadism
Immunoglobulin Class Switching
Immunoglobulin Constant Regions
Immunoglobulins
In Situ Hybridization, Fluorescence
Incidental Findings
INDEL Mutation
Infant
Infant, Newborn
Inflammatory Bowel Diseases
Information Dissemination
Inheritance Patterns
Insulin Resistance
Intellectual Disability
Interferon-Induced Helicase, IFIH1
Interferons
Intestinal Pseudo-Obstruction
Intracellular Signaling Peptides and Proteins
Intracranial Aneurysm
Intracranial Arteriovenous Malformations
Intracranial Hemorrhages
Iran
Iron Metabolism Disorders
Islets of Langerhans
Italy
Kidney
Kidney Diseases, Cystic
Kidney Failure, Chronic
Killer Cells, Natural
Knee Joint
Language Development Disorders
LIM Domain Proteins
Limit of Detection
Lipodystrophy
Lissencephaly
Liver Failure
Loss of Function Mutation
Lower Extremity Deformities, Congenital
Magnetic Resonance Imaging
Male
Mammals
Mandible
Marfan Syndrome
Maxilla
Mediator Complex
Megalencephaly
Membrane Proteins
Membrane Transport Proteins
Metabolome
Metabolomics
Metalloendopeptidases
Methyltransferases
Mice
Mice, Inbred C57BL
Mice, Knockout
Mice, SCID
Microarray Analysis
Microcephaly
Microfilament Proteins
Micrognathism
Microsatellite Repeats
Microscopy, Fluorescence
Microtubule-Associated Proteins
Microtubules
Middle Aged
Minichromosome Maintenance Proteins
Minority Groups
Mitochondria
Mitochondrial Membranes
Mitochondrial Proteins
Mitral Valve Insufficiency
Models, Genetic
Models, Molecular
Molecular Diagnostic Techniques
Molecular Sequence Annotation
Molecular Sequence Data
Mosaicism
Mouth Abnormalities
Movement Disorders
Moyamoya Disease
Mullerian Ducts
Multifactorial Inheritance
Muscle Hypotonia
Muscle Proteins
Muscle Spasticity
Muscle, Skeletal
Muscles
Muscular Dystrophies, Limb-Girdle
Muscular Dystrophy, Emery-Dreifuss
Musculoskeletal Abnormalities
Mutation
Mutation, Missense
Myelin P2 Protein
Myokymia
National Institutes of Health (U.S.)
Neoplasm Proteins
Nerve Tissue Proteins
Nervous System Diseases
Nervous System Malformations
Netrins
Neural Conduction
Neuroaxonal Dystrophies
Neurodevelopmental Disorders
Neuroimaging
Neuromuscular Diseases
Neurons
Nitrogen
Nonsense Mediated mRNA Decay
N-Terminal Acetyltransferase A
N-Terminal Acetyltransferase E
Nuclear Proteins
Nucleotides
Obesity
Odds Ratio
Oligodeoxyribonucleotides
Optic Atrophy
Orthostatic Intolerance
Osteogenesis Imperfecta
Osteomyelitis
Palate
Paraplegia
Parents
Paternal Inheritance
Pathology, Molecular
Patient Care
PAX8 Transcription Factor
Pedigree
Pelizaeus-Merzbacher Disease
Penetrance
Peripheral Nervous System Diseases
Peru
Phenotype
Phosphoprotein Phosphatases
Phosphoproteins
Phosphorylation
Pilot Projects
Polydactyly
Polymorphism, Single Nucleotide
Posture
Precision Medicine
Pregnancy
Prenatal Diagnosis
Prevalence
Primary Ovarian Insufficiency
Problem Behavior
Progeria
Prognosis
Proteasome Endopeptidase Complex
Protein Binding
Protein Conformation
Protein Domains
Protein Isoforms
Protein Phosphatase 1
Proteins
Proteolysis
Proteomics
Proto-Oncogene Proteins
PTEN Phosphohydrolase
Qa-SNARE Proteins
Quadriplegia
Radiography
Rare Diseases
Rats
Receptors, Antigen
Receptors, Cell Surface
Receptors, Immunologic
Receptors, Interleukin
Receptors, Metabotropic Glutamate
Receptors, Vascular Endothelial Growth Factor
Receptors, Virus
Recombinant Proteins
Recombination, Genetic
Reference Values
Registries
Regulatory Factor X Transcription Factors
Renal Insufficiency
Repressor Proteins
Retina
Retrospective Studies
Reverse Genetics
rhoA GTP-Binding Protein
Ribosomes
RNA
RNA Helicases
RNA Splice Sites
RNA Splicing
RNA, Messenger
RNA-Binding Proteins
Ryanodine Receptor Calcium Release Channel
Saccharomyces cerevisiae
Saccharomyces cerevisiae Proteins
Scoliosis
Seizures
Sequence Alignment
Sequence Analysis, DNA
Sequence Deletion
Sequence Homology
Siblings
Signal Transduction
Smad2 Protein
Smith-Magenis Syndrome
Sodium-Calcium Exchanger
Software
SOXE Transcription Factors
Spasms, Infantile
Spastic Paraplegia, Hereditary
Spastin
Spectrin
Sphingomyelin Phosphodiesterase
Spindle Apparatus
Spine
Steroid Isomerases
Structure-Activity Relationship
Surveys and Questionnaires
Symporters
Syndactyly
Syndrome
Talipes Cavus
T-Box Domain Proteins
Tight Junctions
Tilt-Table Test
TOR Serine-Threonine Kinases
Transcription Factor AP-2
Transcription Factors
Transforming Growth Factor beta
Translocation, Genetic
Transposases
Transposition of Great Vessels
Trinucleotide Repeat Expansion
Trinucleotide Repeats
Triploidy
Tuberous Sclerosis
Tubulin
Tumor Suppressor Protein p53
Tumor Suppressor Proteins
Turkey
Turner Syndrome
Ubiquitin-Protein Ligases
United States
Urinary Bladder
Urinary Tract
Urogenital Abnormalities
Uterus
Vagina
Vascular Endothelial Growth Factor A
VDJ Recombinases
Vesico-Ureteral Reflux
Vesicular Monoamine Transport Proteins
Vesicular Transport Proteins
Waardenburg Syndrome
Weight Gain
White Matter
Whole Genome Sequencing
Wnt Proteins
Wnt Signaling Pathway
Wolffian Ducts
Wolff-Parkinson-White Syndrome
Workflow
X Chromosome Inactivation
Young Adult
Zebrafish
Zebrafish Proteins
Zinc
Zinc Fingers
POSEY's Networks
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Concepts (522)
Derived automatically from this person's publications.
Intellectual Disability
Neurodevelopmental Disorders
Phenotype
Genetic Diseases, Inborn
Genomics
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Co-Authors (111)
People in Profiles who have published with this person.
LUPSKI, JAMES
GIBBS, RICHARD
PEHLIVAN, DAVUT
CALAME, DANIEL
MUZNY, DONNA
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Similar People (60)
People who share similar concepts with this person.
LUPSKI, JAMES
GIBBS, RICHARD
BOERWINKLE, ERIC
STANKIEWICZ, PAWEL
AMOS, CHRIS
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_
Same Department
People who are also in this person's primary department.
HAELTERMAN, NELE
ROBAK, LAURIE
SCHERER, STEVEN
VOSSAERT, LIESBETH
WORLEY, KIM
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