Boris Keren Selected Research

Neurodevelopmental Disorders

1/2022	Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
11/2021	Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
11/2021	Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
10/2021	Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
1/2021	Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
1/2021	Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
1/2021	Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
1/2021	Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
1/2020	Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
1/2020	Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

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Boris Keren Research Topics

Disease

18	Intellectual Disability (Idiocy) 01/2022 - 03/2015
15	Neurodevelopmental Disorders 01/2022 - 11/2018
6	Microcephaly 01/2021 - 03/2015
5	Epilepsy (Aura) 07/2021 - 06/2018
5	Brain Diseases (Brain Disorder) 07/2021 - 01/2010
4	Seizures (Absence Seizure) 01/2022 - 03/2015
3	Autistic Disorder (Autism) 01/2022 - 01/2020
3	Hereditary Spastic Paraplegia 01/2022 - 01/2019
3	Movement Disorders (Movement Disorder) 01/2022 - 10/2008
3	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2020 - 06/2017
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	Autism Spectrum Disorder 12/2015 - 03/2015
2	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2015 - 05/2010
1	Genomic Instability 10/2021
1	Vaccinia 10/2021
1	Epileptic Syndromes 07/2021
1	Febrile Seizures (Febrile Seizure) 07/2021
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 07/2021
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021
1	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 01/2021
1	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021
1	Muscle Hypotonia (Hypotonia) 01/2021
1	Facies 01/2021
1	Disease Progression 01/2021
1	Neurologic Manifestations (Neurological Manifestations) 12/2020
1	Neoplasms (Cancer) 12/2020
1	Carcinogenesis 12/2020
1	Muscle Weakness 10/2020
1	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 10/2020
1	Snyder Robinson syndrome 04/2020
1	Dystonic Disorders (Writer's Cramp) 01/2020
1	Megalencephaly 01/2020
1	Nervous System Diseases (Neurological Disorders) 12/2019
1	Polymicrogyria 12/2019
1	Mental Disorders (Mental Disorder) 10/2019
1	Agenesis of Corpus Callosum 10/2019
1	Spastic Ataxia 01/2019
1	Tourette Syndrome (Tourette's Syndrome) 01/2019
1	Atrophy 12/2018
1	Developmental Disabilities (Developmental Disability) 11/2018
1	Cardiomyopathies (Cardiomyopathy) 01/2018
1	Cataract (Cataracts) 01/2018
1	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2018
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 06/2017
1	Cerebellar Diseases (Cerebellar Syndrome) 06/2017
1	Polydactyly (Polydactylism) 01/2016

Drug/Important Bio-Agent (IBA)

13	Proteins (Proteins, Gene)FDA Link 01/2022 - 06/2012
4	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 10/2008
3	Transcription Factors (Transcription Factor)IBA 01/2021 - 01/2020
3	Pharmaceutical PreparationsIBA 12/2018 - 06/2017
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	Histones (Histone)IBA 12/2020 - 01/2019
2	TubulinIBA 12/2018 - 11/2010
1	GTP-Binding Proteins (G-Protein)IBA 01/2022
1	NucleotidesIBA 01/2022
1	CationsIBA 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	DNA Transposable Elements (Element, IS)IBA 01/2021
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2021
1	Heterogeneous-Nuclear Ribonucleoproteins (Informatin)IBA 01/2021
1	PotassiumIBA 01/2021
1	RNA (Ribonucleic Acid)IBA 01/2021
1	Retroelements (Retrotransposon)IBA 01/2021
1	CyclinsIBA 01/2021
1	tenascin XIBA 10/2020
1	Spermine SynthaseIBA 04/2020
1	SpectrinIBA 01/2020
1	EnzymesIBA 01/2020
1	Uridine Diphosphate Glucose (UDP Glucose)IBA 01/2020
1	RNA Helicases (RNA Helicase)IBA 01/2020
1	ThioredoxinsIBA 12/2019
1	Protein Disulfide-IsomerasesIBA 12/2019
1	AMPA Receptors (AMPA Receptor)IBA 12/2019
1	Lactic Acid (Lactate)FDA LinkGeneric 12/2019
1	Cadherins (E-Cadherin)IBA 10/2019
1	LigandsIBA 01/2019
1	Lysine (L-Lysine)FDA Link 01/2019
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2019
1	Opioid Receptors (Opioid Receptor)IBA 01/2019
1	Notch ReceptorsIBA 01/2019
1	KinesinsIBA 01/2019
1	Adenosine Triphosphatases (ATPase)IBA 11/2018
1	Guanosine Triphosphate (GTP)IBA 11/2018
1	Monomeric GTP-Binding ProteinsIBA 11/2018
1	Guanosine Diphosphate (GDP)IBA 11/2018
1	Ion Channels (Ion Channel)IBA 09/2018
1	Wiskott-Aldrich Syndrome Protein FamilyIBA 01/2018
1	Lysine AcetyltransferasesIBA 01/2018
1	adducinIBA 01/2018
1	CholesterolIBA 06/2017
1	Mitochondrial DNA (mtDNA)IBA 06/2017

Therapy/Procedure

2	Ligation 05/2014 - 04/2008