University of Washington Center for Mendelian Genomics Selected Research

Lissencephaly

12/2018	MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
11/2018	Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

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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	TungstenIBA 10/2021 - 10/2021
2	signal sequence receptorIBA 01/2019 - 03/2014
2	Biological ProductsIBA 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	PolyphosphatesIBA 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- thiazoleIBA 01/2019
1	RNA (Ribonucleic Acid)IBA 01/2019
1	CamptothecinIBA 01/2019
1	SpectrinIBA 12/2018
1	Collagen Type IXIBA 12/2018
1	Monomeric GTP-Binding ProteinsIBA 01/2018
1	Epidermal Growth Factor (EGF)IBA 01/2018
1	F-Box ProteinsIBA 01/2018
1	SugarsIBA 11/2017
1	NucleotidesIBA 11/2017
1	Cytidine Monophosphate N-Acetylneuraminic AcidIBA 11/2017
1	Cytoplasmic DyneinsIBA 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 ProteinsIBA 04/2016
1	Oxidoreductases (Dehydrogenase)IBA 03/2016
1	Guanine NucleotidesIBA 01/2016
1	LipidsIBA 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	UbiquitinIBA 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 43IBA 06/2014
1	CohesinsIBA 06/2014
1	Zonula Occludens-2 ProteinIBA 04/2014

Therapy/Procedure

1	Liver Transplantation 12/2016
1	Artificial Respiration (Mechanical Ventilation) 04/2016