Karen B Avraham Selected Research

Hearing Loss (Hearing Impairment)

4/2022	The noncoding genome and hearing loss.
4/2022	Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
1/2022	The Genomics of Auditory Function and Disease.
11/2021	Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
10/2020	Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
1/2020	Genomic analysis of inherited hearing loss in the Palestinian population.
6/2019	Atypical Auditory Brainstem Response and Protein Expression Aberrations Related to ASD and Hearing Loss in the Adnp Haploinsufficient Mouse Brain.
11/2018	DNA methylation dynamics during embryonic development and postnatal maturation of the mouse auditory sensory epithelium.
11/2018	Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
3/2016	Hearing loss patterns after cochlear implantation via the round window in an animal model.

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Karen B Avraham Research Topics

Disease

33	Hearing Loss (Hearing Impairment) 04/2022 - 03/2002
26	Deafness (Deaf Mutism) 01/2021 - 03/2002
9	Nonsyndromic Deafness 09/2013 - 05/2002
2	Otosclerosis 01/2021 - 04/2006
2	Skin Diseases (Skin Disease) 09/2014 - 01/2005
2	Otitis Media 12/2013 - 09/2012
2	Cholesteatoma 12/2013 - 09/2012
2	Acoustic Neuroma (Acoustic Neurinoma) 12/2013 - 09/2012
2	Autosomal Recessive 30 Deafness 04/2011 - 05/2002
1	Ankylosis 01/2021
1	Autism Spectrum Disorder 06/2019
1	Adenomatous Polyposis Coli (Familial Adenomatous Polyposis) 01/2019
1	Neoplasms (Cancer) 01/2017
1	Hypothyroidism 08/2014
1	Inflammation (Inflammations) 06/2014
1	Sensorineural Hearing Loss 03/2014
1	Ear Diseases (Disease, Ear) 12/2013
1	High-Frequency Hearing Loss 02/2013
1	Kidney Calculi (Kidney Stone) 07/2010
1	Retinal Degeneration 08/2009
1	Autosomal Recessive 4 Deafness 04/2008
1	Autosomal Dominant 15 Deafness 02/2007
1	Inborn Genetic Diseases (Disease, Hereditary) 09/2006
1	Otosclerosis 4 04/2006
1	Autosomal Recessive 28 Deafness 01/2006
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2005
1	Autosomal Dominant 48 Deafness 06/2003
1	Erythrokeratodermia Variabilis 05/2002
1	Autosomal Recessive 22 Deafness 04/2002
1	Autosomal Recessive Deafness 04/2002

Drug/Important Bio-Agent (IBA)

18	Proteins (Proteins, Gene)FDA Link 01/2021 - 04/2002
8	Connexin 26IBA 09/2014 - 03/2002
7	MicroRNAs (MicroRNA)IBA 04/2022 - 09/2009
6	Myosins (Myosin)IBA 01/2016 - 05/2002
3	DNA (Deoxyribonucleic Acid)IBA 10/2020 - 09/2011
3	Biological ProductsIBA 11/2019 - 01/2009
3	myosin VIIBA 01/2016 - 08/2004
3	ConnexinsIBA 09/2006 - 01/2005
2	Adenosine Monophosphate (AMP)IBA 11/2021 - 11/2018
2	Messenger RNA (mRNA)IBA 01/2018 - 01/2017
1	Phospholipids (Phosphatides)FDA LinkGeneric 04/2022
1	Silver Sulfadiazine (SSD)FDA LinkGeneric 01/2021
1	Basic Helix-Loop-Helix Transcription FactorsIBA 10/2020
1	RNA (Ribonucleic Acid)IBA 01/2020
1	Tumor Suppressor Proteins (Proteins, Tumor Suppressor)IBA 01/2019
1	Transcription Factors (Transcription Factor)IBA 01/2018
1	ProteomeIBA 01/2017
1	Long Noncoding RNAIBA 01/2017
1	Actins (F Actin)IBA 01/2016
1	Thyroid HormonesIBA 08/2014
1	PTX3 proteinIBA 06/2014
1	MARVEL Domain Containing 2 ProteinIBA 09/2013
1	Adenosine Triphosphate (ATP)IBA 09/2013
1	Complementary RNA (cRNA)IBA 09/2011
1	OligonucleotidesIBA 09/2011
1	Nonsense Codon (Nonsense Mutation)IBA 09/2010
1	Membrane Proteins (Integral Membrane Proteins)IBA 09/2010
1	Tight Junction ProteinsIBA 07/2010
1	Calcium OxalateIBA 07/2010
1	Retinaldehyde (Retinal)IBA 08/2009
1	Transcription Factor Brn-3CIBA 02/2007
1	F-actin-binding proteinsIBA 01/2006
1	Microfilament Proteins (Actin Binding Proteins)IBA 01/2006
1	Protein Isoforms (Isoforms)IBA 01/2006
1	Connexin 30IBA 06/2004
1	Myosin Type I (Myosin IA)IBA 06/2003
1	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 09/2002
1	human GJB3 proteinIBA 05/2002
1	GelsIBA 04/2002

Therapy/Procedure

7	Therapeutics 04/2022 - 10/2005
2	Cochlear Implantation 03/2016 - 05/2006
2	Cochlear Implants (Cochlear Implant) 03/2016 - 03/2014
1	Stapes Surgery (Stapedectomy) 01/2021
1	Prostheses and Implants (Prosthesis) 01/2021