Boris Keren Selected Research

DNA (Deoxyribonucleic Acid)

1/2024	De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
1/2020	Increased diagnostic yield in complex dystonia through exome sequencing.
1/2015	WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
6/2012	Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
10/2008	Myoclonus-dystonia due to maternal uniparental disomy.

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Boris Keren Research Topics

Disease

21	Intellectual Disability (Idiocy) 01/2023 - 03/2015
18	Neurodevelopmental Disorders 05/2024 - 11/2018
9	Epilepsy (Aura) 03/2024 - 11/2018
8	Brain Diseases (Brain Disorder) 03/2024 - 01/2010
6	Microcephaly 01/2021 - 03/2015
5	Seizures (Absence Seizure) 01/2022 - 03/2015
4	Autism Spectrum Disorder 01/2024 - 03/2015
4	Autistic Disorder (Autism) 10/2023 - 01/2020
3	Movement Disorders (Movement Disorder) 01/2022 - 10/2008
3	Hereditary Spastic Paraplegia 01/2022 - 01/2019
3	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2020 - 06/2017
2	Ataxia (Dyssynergia) 12/2023 - 06/2012
2	Atrophy 12/2023 - 12/2018
2	Neoplasms (Cancer) 11/2023 - 12/2020
2	Megalencephaly 10/2023 - 01/2020
2	Cardiomyopathies (Cardiomyopathy) 07/2023 - 01/2018
2	Tourette Syndrome (Tourette's Syndrome) 01/2023 - 01/2019
2	Tetralogy of Fallot (Fallot Tetralogy) 10/2021 - 10/2021
2	Channelopathies 01/2021 - 09/2018
2	Mitochondrial Diseases (Mitochondrial Disease) 12/2019 - 06/2017
2	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2015 - 05/2010
1	Congenital Abnormalities (Deformity) 05/2024
1	Holoprosencephaly (Arhinencephaly) 03/2024
1	Embryo Loss 02/2024
1	Osteoporosis 10/2023
1	Catatonia 07/2023
1	Myofibrillar Myopathy 07/2023
1	Lipoma (Lipomata) 01/2023
1	Dysostoses 01/2023
1	Cysts 01/2023
1	Snijders Blok-Campeau syndrome 01/2023
1	Clark-Baraitser syndrome 11/2022
1	Adult-onset citrullinemia type 2 08/2022
1	Autoimmune limbic encephalitis 01/2022
1	Kabuki syndrome 01/2022
1	Fever (Fevers) 01/2022
1	Glioma (Gliomas) 01/2022
1	Vaccinia 10/2021
1	Genomic Instability 10/2021
1	Febrile Seizures (Febrile Seizure) 07/2021
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 07/2021
1	Epileptic Syndromes 07/2021
1	Muscle Hypotonia (Hypotonia) 01/2021
1	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021
1	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 01/2021
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021
1	Disease Progression 01/2021

Drug/Important Bio-Agent (IBA)

16	Proteins (Proteins, Gene)FDA Link 03/2024 - 06/2012
5	DNA (Deoxyribonucleic Acid)IBA 01/2024 - 10/2008
4	Histones (Histone)IBA 11/2023 - 01/2019
3	Lysine (L-Lysine)FDA Link 11/2023 - 01/2019
3	Transcription Factors (Transcription Factor)IBA 01/2021 - 01/2020
2	Amino Acids FDA Link 01/2024 - 12/2023
2	Carrier Proteins (Binding Protein)IBA 12/2023 - 01/2023
2	Biomarkers (Surrogate Marker)IBA 10/2023 - 11/2022
2	Opioid Receptors (Opioid Receptor)IBA 01/2023 - 01/2019
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 12/2022 - 01/2021
2	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2021
2	CalciumIBA 01/2022 - 11/2018
2	ChromatinIBA 11/2021 - 01/2021
2	Kainic Acid Receptors (Kainate Receptor)IBA 11/2021 - 01/2021
2	Phosphotransferases (Kinase)IBA 10/2021 - 03/2015
2	Vascular Endothelial Growth Factor Receptors (VEGF Receptors)IBA 10/2021 - 10/2021
2	TubulinIBA 12/2018 - 11/2010
1	Deubiquitinating EnzymesIBA 05/2024
1	Cyclic NucleotidesIBA 03/2024
1	Niacinamide (Nicotinamide)FDA LinkGeneric 02/2024
1	Nicotinamide MononucleotideIBA 02/2024
1	NAD (NADH)IBA 02/2024
1	Glutamic Acid (Glutamate)FDA Link 01/2024
1	Interferon Regulatory Factor-2 (Interferon Regulatory Factor 2)IBA 12/2023
1	MethyltransferasesIBA 10/2023
1	GABA Receptors (GABA Receptor)IBA 07/2023
1	DesminIBA 07/2023
1	Ligases (Synthetase)IBA 06/2023
1	Cullin Proteins (Cullins)IBA 06/2023
1	UbiquitinIBA 06/2023
1	RNA Polymerase I (Polymerase I, RNA)IBA 01/2023
1	DNA HelicasesIBA 01/2023
1	GTP Phosphohydrolases (GTPases)IBA 01/2023
1	ATPases Associated with Diverse Cellular ActivitiesIBA 01/2023
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2023
1	Chloride Channels (Chloride Channel)IBA 01/2023
1	Thyroid Hormone Receptors (Thyroid Hormone Receptor)IBA 11/2022
1	CarbohydratesIBA 08/2022
1	anti-leucine-rich glioma-inactivated 1 autoantibodyIBA 01/2022
1	CationsIBA 01/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	NucleotidesIBA 01/2022
1	GTP-Binding Proteins (G-Protein)IBA 01/2022
1	Double-Stranded RNA (RNA, Double Stranded)IBA 10/2021
1	Vascular Endothelial Growth Factor Receptor-2 (Vascular Endothelial Growth Factor Receptor 2)IBA 10/2021
1	Voltage-Gated Sodium ChannelsIBA 07/2021
1	PotassiumIBA 01/2021
1	DNA Transposable Elements (Element, IS)IBA 01/2021
1	Heterogeneous-Nuclear Ribonucleoproteins (Informatin)IBA 01/2021
1	CyclinsIBA 01/2021
1	Retroelements (Retrotransposon)IBA 01/2021

Therapy/Procedure

2	Ligation 05/2014 - 04/2008
1	Toothbrushing 01/2022