William B Dobyns Selected Research

Autism Spectrum Disorder

1/2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

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William B Dobyns Research Topics

Disease

9	Lissencephaly 11/2022 - 02/2004
9	Microcephaly 01/2021 - 07/2007
8	Polymicrogyria 01/2021 - 01/2004
6	Epilepsy (Aura) 01/2023 - 04/2014
6	Malformations of Cortical Development 09/2015 - 09/2010
5	Megalencephaly 01/2021 - 06/2012
3	Autistic Disorder (Autism) 01/2021 - 01/2009
3	Hydrocephalus (Hydrocephaly) 01/2021 - 05/2010
3	Muscular Dystrophies (Muscular Dystrophy) 01/2020 - 02/2006
3	Infantile Spasms (West Syndrome) 09/2017 - 08/2014
3	Neoplasms (Cancer) 10/2016 - 12/2015
3	Walker-Warburg Syndrome 05/2012 - 11/2002
2	Dystonia (Limb Dystonia) 01/2023 - 07/2004
2	Classical Lissencephalies and Subcortical Band Heterotopias 11/2022 - 04/2005
2	Polydactyly (Polydactylism) 01/2021 - 05/2014
2	Intellectual Disability (Idiocy) 01/2021 - 04/2005
2	Dystonia 12 01/2021 - 07/2004
2	Aneurysm (Aneurysms) 01/2020 - 01/2019
2	Periventricular Nodular Heterotopia 01/2018 - 11/2013
2	Atrophy 09/2017 - 11/2010
2	Agenesis of Cerebellar Vermis 07/2017 - 05/2015
2	Pontocerebellar Hypoplasia 03/2017 - 01/2011
2	Deafness (Deaf Mutism) 03/2015 - 04/2010
2	Coloboma (Colobomas) 03/2015 - 01/2004
2	Encephalocele (Encephalocele, Frontal) 08/2013 - 01/2004
2	Alopecia (Baldness) 02/2013 - 10/2012
1	Microphthalmos 01/2023
1	Neurodevelopmental Disorders 01/2023
1	Brain Diseases (Brain Disorder) 01/2021
1	Cerebellar Ataxia (Dysmetria) 01/2021
1	Arteriovenous Malformations (Arteriovenous Malformation) 01/2021
1	Vascular Malformations 01/2021
1	Migraine with Aura (Familial Hemiplegic Migraine) 01/2021
1	Alternating hemiplegia of childhood 01/2021
1	Optic Atrophy 01/2021
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021
1	Premature Aging 01/2020
1	Metabolic Bone Diseases (Osteopenia) 01/2020
1	Autism Spectrum Disorder 01/2020
1	Genomic Instability 01/2020
1	Myofibroma 01/2020
1	Myofibromatosis 01/2020
1	Intracranial Aneurysm (Cerebral Aneurysm) 01/2019
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2019
1	Stroke (Strokes) 11/2018
1	Ciliopathies 07/2017
1	Zika Virus Infection 01/2017
1	Infections 01/2017
1	Agenesis of Corpus Callosum 01/2017
1	Cicatrix (Scar) 01/2017
1	Contracture 01/2017
1	Seizures (Absence Seizure) 11/2016
1	Hamartoma 10/2016
1	Tuberous Sclerosis (Bourneville's Disease) 10/2016
1	Astrocytoma (Pilocytic Astrocytoma) 10/2016
1	Neoplasm Metastasis (Metastasis) 10/2016

Drug/Important Bio-Agent (IBA)

17	Proteins (Proteins, Gene)FDA Link 01/2021 - 07/2004
4	TubulinIBA 11/2022 - 02/2013
4	Phosphotransferases (Kinase)IBA 01/2019 - 07/2007
3	Adenosine Triphosphatases (ATPase)IBA 01/2023 - 07/2004
3	EnzymesIBA 12/2014 - 02/2006
2	Transcription Factors (Transcription Factor)IBA 01/2021 - 01/2020
2	Laminin (Merosin)IBA 01/2020 - 03/2013
2	Platelet-Derived Growth Factor beta Receptor (Receptor, Platelet Derived Growth Factor beta)IBA 01/2020 - 01/2019
2	CateninsIBA 10/2019 - 01/2018
2	SpectrinIBA 12/2018 - 09/2017
2	LigandsIBA 01/2018 - 03/2013
2	Retinaldehyde (Retinal)IBA 01/2017 - 03/2015
2	Nonsense Codon (Nonsense Mutation)IBA 11/2014 - 02/2004
2	Amino Acids FDA Link 04/2014 - 03/2014
2	Dystroglycans (Dystroglycan)IBA 03/2013 - 05/2012
2	polyalanineIBA 04/2005 - 02/2004
1	Vacuolar Proton-Translocating ATPases (V-Type ATPase)IBA 01/2023
1	retinoic acid receptor betaIBA 01/2023
1	Cell-Free Nucleic AcidsIBA 01/2021
1	Protein Isoforms (Isoforms)IBA 01/2021
1	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 01/2020
1	MethyltransferasesIBA 01/2020
1	Imatinib Mesylate (Gleevec)FDA Link 01/2020
1	Histone-Lysine N-MethyltransferaseIBA 01/2020
1	Histones (Histone)IBA 01/2020
1	SphingolipidsIBA 10/2019
1	Cytoskeletal ProteinsIBA 10/2019
1	adenomatous polyposis coli protein 2IBA 10/2019
1	Platelet Activating FactorIBA 10/2019
1	UDP-galactose translocatorIBA 01/2019
1	LipidsIBA 01/2019
1	DNA (Deoxyribonucleic Acid)IBA 11/2018
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2018
1	microtubule-associated protein 1B (MAP5)IBA 01/2018
1	Small Nuclear RNA (snRNA)IBA 03/2017
1	Exonucleases (3' 5' Exonuclease)IBA 03/2017
1	Caspase 2IBA 11/2016
1	Delta CateninIBA 10/2016
1	trans-sodium crocetinate (crocetin)IBA 10/2016
1	Histone MethyltransferasesIBA 03/2016

Therapy/Procedure

3	Therapeutics 01/2019 - 08/2014
2	Anesthesia 02/2013 - 10/2012
1	Precision Medicine 11/2018
1	Electrodes (Electrode) 01/2018