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University of Washington Center for Mendelian Genomics Selected Research
University of Washington Center for Mendelian Genomics Research Topics
Disease
5
Ciliopathies
01/2021 - 08/2015
4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
01/2019 - 04/2013
3
Aortic Dissection
01/2018 - 01/2016
2
Congenital Abnormalities (Deformity)
01/2022 - 12/2019
2
Liver Diseases (Liver Disease)
01/2022 - 04/2014
2
Bicuspid Aortic Valve Disease
10/2021 - 10/2021
2
Agenesis of Cerebellar Vermis
01/2020 - 07/2017
2
Aortic Diseases
01/2019 - 03/2016
2
Lissencephaly
12/2018 - 11/2018
2
Neurodevelopmental Disorders
01/2018 - 01/2016
2
Hearing Loss (Hearing Impairment)
01/2018 - 06/2014
2
Brain Diseases (Brain Disorder)
11/2017 - 04/2016
2
Congenital Disorders of Glycosylation
11/2017 - 01/2016
2
Seizures (Absence Seizure)
04/2016 - 01/2016
1
Intellectual Disability (Idiocy)
07/2022
1
Transaldolase Deficiency
01/2022
1
Osteogenesis Imperfecta (Lobstein Disease)
10/2021
1
Stillbirth
10/2021
1
Acheiropodia
01/2021
1
Muscle Weakness
01/2020
1
Mental Disorders (Mental Disorder)
10/2019
1
sponastrime type Spondyloepimetaphyseal dysplasia
01/2019
1
Otitis Media
01/2019
1
Chromosome Aberrations (Chromosome Abnormalities)
01/2019
1
Strudwick syndrome
01/2019
1
type 1 Stickler syndrome
12/2018
1
Genomic Instability
01/2018
1
Noonan Syndrome (Female Pseudo-Turner Syndrome)
01/2018
1
Inborn Genetic Diseases (Disease, Hereditary)
11/2017
1
Skin Abnormalities
08/2017
1
Polydactyly (Polydactylism)
08/2017
1
Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
08/2017
1
Cardiomyopathies (Cardiomyopathy)
08/2017
1
Jeune syndrome
08/2017
1
Dystonic Disorders (Writer's Cramp)
12/2016
1
End Stage Liver Disease
12/2016
1
Sclerosing Cholangitis
12/2016
1
Optic Atrophy
12/2016
1
Muscle Hypotonia (Hypotonia)
04/2016
1
Developmental Disabilities (Developmental Disability)
04/2016
1
Atrophy
04/2016
1
Familial Thoracic 1 Aortic Aneurysm
01/2016
1
Short Rib-Polydactyly Syndrome
01/2016
1
Marfan Syndrome (Marfan's Syndrome)
01/2016
1
Thoracic Aortic Aneurysm
01/2016
1
Neoplasms (Cancer)
01/2016
1
Genetic Predisposition to Disease (Genetic Predisposition)
01/2016
1
Nervous System Diseases (Neurological Disorders)
11/2015
1
Schneckenbecken dysplasia
10/2015
1
Retinitis Pigmentosa (Pigmentary Retinopathy)
08/2015
1
Facies
06/2014
1
Ventricular Heart Septal Defects (Ventricular Septal Defect)
03/2014
1
Deafness (Deaf Mutism)
01/2014
Drug/Important Bio-Agent (IBA)
20
Proteins (Proteins, Gene)
FDA Link
07/2022 - 03/2014
6
DNA (Deoxyribonucleic Acid)
IBA
01/2022 - 01/2014
2
Nonsense Codon (Nonsense Mutation)
IBA
10/2021 - 03/2014
2
Tungsten
IBA
10/2021 - 10/2021
2
signal sequence receptor
IBA
01/2019 - 03/2014
2
Biological Products
IBA
11/2018 - 07/2017
2
Transferrin (beta 2 Transferrin)
IBA
01/2017 - 11/2015
2
Phosphoric Monoester Hydrolases (Phosphatases)
IBA
10/2015 - 01/2013
2
Inositol (Myoinositol)
IBA
10/2015 - 01/2013
2
Polyphosphates
IBA
10/2015 - 01/2013
1
gamma-Glutamyltransferase (gamma-Glutamyl Transpeptidase)
IBA
01/2022
1
alpha-Fetoproteins (alpha-Fetoprotein)
IBA
01/2022
1
Myosins (Myosin)
IBA
01/2020
1
2- cyclohexylidenhydrazo- 4- phenyl- thiazole
IBA
01/2019
1
RNA (Ribonucleic Acid)
IBA
01/2019
1
Camptothecin
IBA
01/2019
1
Spectrin
IBA
12/2018
1
Collagen Type IX
IBA
12/2018
1
Monomeric GTP-Binding Proteins
IBA
01/2018
1
Epidermal Growth Factor (EGF)
IBA
01/2018
1
F-Box Proteins
IBA
01/2018
1
Sugars
IBA
11/2017
1
Nucleotides
IBA
11/2017
1
Cytidine Monophosphate N-Acetylneuraminic Acid
IBA
11/2017
1
Cytoplasmic Dyneins
IBA
08/2017
1
Laminin (Merosin)
IBA
08/2017
1
Protein Isoforms (Isoforms)
IBA
08/2017
1
Fatty Acids (Saturated Fatty Acids)
IBA
12/2016
1
rab GTP-Binding Proteins
IBA
04/2016
1
Oxidoreductases (Dehydrogenase)
IBA
03/2016
1
Guanine Nucleotides
IBA
01/2016
1
Lipids
IBA
01/2016
1
Phosphotransferases (Kinase)
IBA
01/2016
1
1,3,4,6- tetra- O- acetyl- 2- azido- 2- deoxyglucopyranose (TAAD)
IBA
01/2016
1
GTP-Binding Proteins (G-Protein)
IBA
01/2016
1
RNA Precursors (Precursor, mRNA)
IBA
08/2015
1
Ubiquitin
IBA
08/2015
1
G-Protein-Coupled Receptors (Receptors, G Protein Coupled)
IBA
08/2015
1
Proteasome Endopeptidase Complex (Proteasome)
IBA
08/2015
1
Retinaldehyde (Retinal)
IBA
08/2015
1
Coloring Agents (Dyes)
IBA
06/2014
1
Adenylyl Cyclases (Adenylyl Cyclase)
IBA
06/2014
1
FM1 43
IBA
06/2014
1
Cohesins
IBA
06/2014
1
Zonula Occludens-2 Protein
IBA
04/2014
Therapy/Procedure
1
Liver Transplantation
12/2016
1
Artificial Respiration (Mechanical Ventilation)
04/2016