Moien Kanaan

发表

Massive osteopetrosis caused by non-functional osteoclasts in R51Q SNX10 mutant mice.

B. Geiger, S. Winograd-Katz, J. Tuckermann, 2020, Bone.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress

L. Carmel, E. Levy-Lahad, D. Zangen, 2015, Journal of Medical Genetics.

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

Mordechai Shohat, Serena Sirigu, Karen B Avraham, 2013, European Journal of Human Genetics.

From flies' eyes to our ears: Mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

T. Walsh, M. King, Ming K. Lee, 2002, Proceedings of the National Academy of Sciences of the United States of America.

A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA

T. Walsh, M. King, A. Dror, 2011, Mammalian Genome.

Genomic advances for gene discovery in hereditary hearing loss

K. Avraham, M. Kanaan, Moien Kanaan, 2012, Journal of basic and clinical physiology and pharmacology.

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

T. Walsh, M. King, N. Shomron, 2011, Genome Biology.

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East

Tom Walsh, Eric Lynch, Karen B. Avraham, 2002, Human Genetics.

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

E. Levy-Lahad, D. Zangen, A. Samson, 2015, The Journal of clinical investigation.

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

D. Bercovich, Dvir Dahary, S. Gulsuner, 2015, Journal of Medical Genetics.

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities

M. King, S. Pierce, B. Norquist, 2020, Cold Spring Harbor molecular case studies.

R51Q SNX10 induces osteopetrosis by promoting uncontrolled fusion of monocytes to form giant, non-functional osteoclasts

B. Geiger, S. Winograd-Katz, J. Tuckermann, 2018, bioRxiv.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

Functional Characterization of Pendrin Mutations Found in the Israeli and Palestinian Populations

Karen B. Avraham, Zippora Brownstein, K. Avraham, 2011, Cellular Physiology and Biochemistry.

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

Tom Walsh, Karen B Avraham, T. Walsh, 2010, American journal of human genetics.

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

Juan I. Young, M. Tekin, Huawei Li, 2012, American journal of human genetics.

Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci

Manuela Pendziwiat, I. Helbig, K. Klein, 2019, Epilepsia.

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.

M. Indelman, J. Uitto, R. Bergman, 2006, The Journal of investigative dermatology.

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.

M. King, M. Tekin, X. Liu, 2010, American journal of human genetics.

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

M. Indelman, J. Uitto, R. Bergman, 2003, Archives of dermatology.

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

A. Pandya, C. Petit, D. Weil, 2005, Journal of Medical Genetics.

with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

M. Tekin, S. Züchner, X. Liu, 2010 .

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

K. Avraham, M. Frydman, A. Orr-Urtreger, 1999, Human Genetics.

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.

J. Uitto, R. Bergman, G. Richard, 2002, Journal of the American Academy of Dermatology.

Multifarious characterization of leishmania tropica from a Judean desert focus, exposing intraspecific diversity and incriminating phlebotomus sergenti as its vector.

F. Pratlong, C. Jaffe, J. Dedet, 2004, The American journal of tropical medicine and hygiene.

RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR‐203 and p63

O. Sarig, N. Shomron, E. Sprecher, 2015, Experimental dermatology.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.

Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From Osteopetrosis

B. Geiger, S. Winograd-Katz, J. Tuckermann, 2021, Frontiers in Cell and Developmental Biology.

Collaborative genomics for human health and cooperation in the Mediterranean region

Giovanni Romeo, Lefkos Middleton, Drakoulis Yannoukakos, 2010, Nature Genetics.

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22

M. Lathrop, C. Petit, M. Mustapha, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

C. Baker, T. Walsh, M. King, 2010, European Journal of Human Genetics.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

T. Walsh, M. King, N. Shomron, 2020, bioRxiv.