• 5973 Citations
19972022
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Research Output 1997 2020

  • 5973 Citations
  • 209 Article
  • 4 Review article
  • 2 Comment/debate
  • 1 Chapter
2016
5 Citations (Scopus)

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

Manzoli, G. N., Bademci, G., Acosta, A. X., Félix, T. M., Cengiz, F. B., Foster, J., Da Silva, D. S. D., Menendez, I., Sanchez-Pena, I., Tekin, D., Blanton, S. H., Abe-Sandes, K., Liu, X. Z. & Tekin, M., Nov 1 2016, In : Annals of Human Genetics. 80, 6, p. 327-331 5 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Brazil
Genes
Genetic Heterogeneity
7 Citations (Scopus)

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Seemanova, E., Varon, R., Vejvalka, J., Jarolim, P., Seeman, P., Chrzanowska, K. H., Digweed, M., Resnick, I., Kremensky, I., Saar, K., Hoffmann, K., Dutrannoy, V., Karbasiyan, M., Ghani, M., Barić, I., Tekin, M., Kovacs, P., Krawczak, M., Reis, A., Sperling, K. & 1 others, Nothnagel, M., Dec 1 2016, In : PLoS One. 11, 12, e0167984.

Research output: Contribution to journalArticle

Genetic Fitness
Genes
mutation
Mutation
Nijmegen Breakage Syndrome
12 Citations (Scopus)

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

Bademci, G., Cengiz, F. B., Foster, J., Duman, D., Sennaroglu, L., Diaz-Horta, O., Atik, T., Kirazli, T., Olgun, L., Alper, H., Menendez, I., Loclar, I., Sennaroglu, G., Tokgoz-Yilmaz, S., Guo, S., Olgun, Y., Mahdieh, N., Bonyadi, M., Bozan, N., Ayral, A. & 4 others, Ozkinay, F., Yildirim-Baylan, M., Blanton, S. H. & Tekin, M., Aug 26 2016, In : Scientific Reports. 6, 31622.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Genes
Waardenburg Syndrome
Panthera
2015
8 Citations (Scopus)

A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

Yariz, K. O., Sakalar, Y. B., Jin, X., Hertz, J., Sener, E. F., Akay, H., Özbek, M. N., Farooq, A., Goldberg, J. & Tekin, M., Jan 1 2015, In : Clinical Genetics. 87, 2, p. 192-195 4 p.

Research output: Contribution to journalArticle

Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations

Foster, J. & Tekin, M., Oct 20 2015, (Accepted/In press) In : Egyptian Journal of Medical Human Genetics.

Research output: Contribution to journalArticle

Aminoglycosides
Mitochondrial DNA
Hearing Loss
Mutation
Audiometry

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

Voronova, A., Gallagher, D., Zander, M., Cancino, G., Bramall, A., Krause, M. P., Abad, C., Tekin, M., Neilsen, P. M., Callen, D. F., Scherer, S. W., Keller, G. M., Kaplan, D. R., Walz, K. & Miller, F. D., Dec 1 2015, In : SpringerPlus. 4, p. 1-32 32 p., L28.

Research output: Contribution to journalArticle

51 Citations (Scopus)

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

Gallagher, D., Voronova, A., Zander, M. A., Cancino, G. I., Bramall, A., Krause, M. P., Abad, C., Tekin, M., Neilsen, P. M., Callen, D. F., Scherer, S. W., Keller, G. M., Kaplan, D. R., Walz, K. & Miller, F. D., Jan 1 2015, In : Developmental Cell. 32, 1, p. 31-42 12 p.

Research output: Contribution to journalArticle

Acetylation
Autistic Disorder
Histones
Chromatin
Histone Acetyltransferases

Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome

Orenay-Boyacioglu, S., Tekin, M. & Dundar, M., Nov 1 2015, In : Annals of Saudi Medicine. 35, 6, p. 462-467 6 p.

Research output: Contribution to journalArticle

Siblings
Chromosomes, Human, Pair 14
Arachnodactyly
Genes
Phenotype
26 Citations (Scopus)

Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss

Atik, T., Onay, H., Aykut, A., Bademci, G., Kirazli, T., Tekin, M. & Ozkinay, F., Nov 1 2015, In : PLoS One. 10, 11, e0142154.

Research output: Contribution to journalArticle

deafness
Audition
hearing
Deafness
Genes
8 Citations (Scopus)

Comprehensive genetic testing can save lives in hereditary hearing loss

Tekin, D., Tutar, E., Ozturkmen Akay, H., Blanton, S. H., Foster, J. & Tekin, M., Jan 1 2015, In : Clinical Genetics. 87, 2, p. 190-191 2 p.

Research output: Contribution to journalArticle

KCNQ1 Potassium Channel
High-Throughput Nucleotide Sequencing
Sensorineural Hearing Loss
Genetic Testing
Inner Ear
2 Citations (Scopus)

Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome

Singh, A., Tekin, M., Falcone, M. & Kapoor, S., Jan 1 2015, In : Indian Pediatrics. 51, 11, p. 919-920 2 p.

Research output: Contribution to journalArticle

Rickets
Hypophosphatemic Rickets
Fibroblast Growth Factor 3
Genu Valgum
Deafness
4 Citations (Scopus)

HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction

Bulum, B., Özçakar, Z. B., Duman, D., Cengiz, F. B. A., Kavaz, A., Burgu, B., Baskın, E., Çakar, N., Soygür, T., Ekim, M., Tekin, M. & Yalçınkaya, F., 2015, In : Nephron. 130, 1, p. 54-58 5 p.

Research output: Contribution to journalArticle

Neurogenic Urinary Bladder
Urinary Tract
Mutation
Urinary Bladder
Smiling
5 Citations (Scopus)

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

Garg, N., Bademci, G., Foster, J., Siklar, Z., Berberoglu, M. & Tekin, M., Aug 1 2015, In : Journal of Pediatrics. 167, 2, p. 489-491 3 p.

Research output: Contribution to journalArticle

Hypoglycemia
Acanthosis Nigricans
Exome
Mutation
Intellectual Disability
8 Citations (Scopus)

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

Bademci, G., Lasisi, A., Yariz, K. O., Montenegro, P., Menendez, I., Vinueza, R., Paredes, R., Moreta, G., Subasioglu, A., Blanton, S. H., Fitoz, S., Incesulu, A., Sennaroglu, L. & Tekin, M., 2015, In : BMC Medical Genetics. 16, p. 9 1 p.

Research output: Contribution to journalArticle

Deafness
Mutation
Inner Ear
Population
POU Domain Factors
18 Citations (Scopus)

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Atik, T., Koparir, A., Bademci, G., Foster, J., Altunoglu, U., Mutlu, G. Y., Bowdin, S., Elcioglu, N., Tayfun, G. A., Atik, S. S., Ozen, M., Ozkinay, F., Alanay, Y., Kayserili, H., Thiel, S. & Tekin, M., Sep 30 2015, In : Orphanet Journal of Rare Diseases. 10, 1, 128.

Research output: Contribution to journalArticle

Mannose-Binding Protein-Associated Serine Proteases
Phenotype
Mutation
Mannose-Binding Lectin Complement Pathway
Missense Mutation
14 Citations (Scopus)

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

Chakchouk, I., Grati, M., Bademci, G., Bensaid, M., Ma, Q., Chakroun, A., Foster, J., Yan, D., Duman, D., Diaz-Horta, O., Ghorbel, A., Mittal, R., Farooq, A., Tekin, M., Masmoudi, S. & Liu, X. Z., Aug 25 2015, In : Molecular Genetics and Genomics. 290, 4, p. 1327-1334 8 p.

Research output: Contribution to journalArticle

Hearing Loss
Mutation
Collagen Type XI
Exome
Trinucleotide Repeats

Personalized medicine for hereditary deafness

Ord��ez, J., Diaz-Horta, O. & Tekin, M., Jan 1 2015, In : Advances in Predictive, Preventive and Personalised Medicine. 6, p. 47-59 13 p.

Research output: Contribution to journalArticle

Precision Medicine
Deafness
Sensation Disorders
Genetic Heterogeneity
Genetic Testing
26 Citations (Scopus)

Whole-exome sequencing and its impact in hereditary hearing loss

Atik, T., Bademci, G., Diaz-Horta, O., Blanton, S. H. & Tekin, M., Mar 31 2015, In : Genetics research. 97, p. e4

Research output: Contribution to journalReview article

Exome
Hearing Loss
Deafness
Technology
Genes
2014
3 Citations (Scopus)

Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation

Güneş, N., Cengiz, F. B., Duman, D., Dervişoǧlu, S., Tekin, M. & Tüysüz, B., Jan 1 2014, In : Genetic Counseling. 25, 1, p. 41-47 7 p.

Research output: Contribution to journalArticle

Branchio-Oto-Renal Syndrome
Newborn Infant
Lip
Skin
Mutation
20 Citations (Scopus)

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Walz, K., Cohen, D., Neilsen, P. M., Foster, J., Brancati, F., Demir, K., Fisher, R., Moffat, M., Verbeek, N. E., Bjørgo, K., Lo Castro, A., Curatolo, P., Novelli, G., Abad, C., Lei, C., Zhang, L., Diaz-Horta, O., Young, J., Callen, D. F. & Tekin, M., Nov 21 2014, (Accepted/In press) In : Human Genetics.

Research output: Contribution to journalArticle

Mutation
Proteasome Endopeptidase Complex
Mutant Proteins
Protein Sorting Signals
Intellectual Disability
16 Citations (Scopus)

Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: A report from Nigeria

Lasisi, A. O., Bademci, G., Foster, J., Blanton, S. H. & Tekin, M., Jan 1 2014, In : International Journal of Pediatric Otorhinolaryngology. 78, 11, p. 1870-1873 4 p.

Research output: Contribution to journalArticle

Africa South of the Sahara
Deafness
Nigeria
Mitochondrial DNA
Hearing Loss
34 Citations (Scopus)

Complement activation by ligand-driven juxtaposition of discrete pattern recognition complexes

Degn, S. E., Kjaer, T. R., Kidmose, R. T., Jensen, L., Hansen, A. G., Tekin, M., Jensenius, J. C., Andersen, G. R. & Thiel, S., Sep 16 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 37, p. 13445-13450 6 p.

Research output: Contribution to journalArticle

Mannose-Binding Protein-Associated Serine Proteases
Complement Activation
Ligands
Mannose-Binding Lectin
Cluster Analysis
43 Citations (Scopus)

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Thorson, W., Diaz-Horta, O., Foster, J., Spiliopoulos, M., Quintero, R., Farooq, A., Blanton, S. H. & Tekin, M., Jan 1 2014, In : Human Genetics. 133, 6, p. 737-742 6 p.

Research output: Contribution to journalArticle

Urinary Bladder
Mutation
Smooth Muscle
Exome
Intestinal Obstruction
6 Citations (Scopus)

Evidence for genotype-phenotype correlation for OTOF mutations

Yildirim-Baylan, M., Bademci, G., Duman, D., Ozturkmen-Akay, H., Tokgoz-Yilmaz, S. & Tekin, M., Jan 1 2014, In : International Journal of Pediatric Otorhinolaryngology. 78, 6, p. 950-953 4 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Mutation
Sensorineural Hearing Loss
Phenotype
Acoustic Reflex
39 Citations (Scopus)

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

Diaz-Horta, O., Subasioglu-Uzak, A., Grati, M., DeSmidt, A., Foster, J., Cao, L., Bademci, G., Tokgoz-Yilmaz, S., Duman, D., Cengiz, F. B., Abad, C., Mittal, R., Blanton, S. H., Liu, X. Z., Farooq, A., Walz, K., Lu, Z. & Tekin, M., Jul 8 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 27, p. 9864-9868 5 p.

Research output: Contribution to journalArticle

Stereocilia
Hearing
Membrane Proteins
Inclusion Bodies
Cell Membrane
3 Citations (Scopus)

Familial intellectual disability in an Iranian family with a novel truncating mutation in CEP290

Ghaffari, S. R., Rafati, M., Ghaffari, G., Morra, M. & Tekin, M., Jan 1 2014, In : Clinical Genetics. 86, 4, p. 387-390 4 p.

Research output: Contribution to journalArticle

Neoplasm Proteins
Neoplasm Antigens
Preschool Children
Iran
Intellectual Disability
4 Citations (Scopus)

Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction

Foster, J., Kapoor, S., Diaz-Horta, O., Singh, A., Abad, C., Rastogi, A., Moharana, R., Tekeli, O., Walz, K. & Tekin, M., Dec 1 2014, In : Clinical Genetics. 86, 6, p. 589-591 3 p.

Research output: Contribution to journalArticle

19 Citations (Scopus)

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss

Bademci, G., Diaz-Horta, O., Guo, S., Duman, D., Van Booven, D., Foster, J., Cengiz, F. B., Blanton, S. H. & Tekin, M., Sep 1 2014, In : Genetic Testing and Molecular Biomarkers. 18, 9, p. 658-661 4 p.

Research output: Contribution to journalArticle

Exome
Deafness
Hearing Loss
Nucleotides
Genes
247 Citations (Scopus)

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy

Elkan, P. N., Pierce, S. B., Segel, R., Walsh, T., Barash, J., Padeh, S., Zlotogorski, A., Berkun, Y., Press, J. J., Mukamel, M., Voth, I., Hashkes, P. J., Harel, L., Hoffer, V., Ling, E., Yalcinkaya, F., Kasapcopur, O., Lee, M. K., Klevit, R. E., Renbaum, P. & 15 others, Weinberg-Shukron, A., Sener, E. F., Schormair, B., Zeligson, S., Marek-Yagel, D., Strom, T. M., Shohat, M., Singer, A., Rubinow, A., Pras, E., Winkelmann, J., Tekin, M., Anikster, Y., King, M. C. & Levy-Lahad, E., Jan 1 2014, In : New England Journal of Medicine. 370, 10, p. 921-931 11 p.

Research output: Contribution to journalArticle

Polyarteritis Nodosa
Adenosine Deaminase
Mutation
Exome
Systemic Vasculitis
40 Citations (Scopus)

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy

Garg, N., Kasapcopur, O., Foster, J., Barut, K., Tekin, A., Kizilkiliç, O. & Tekin, M., Jan 1 2014, In : European Journal of Pediatrics. 173, 6, p. 827-830 4 p.

Research output: Contribution to journalArticle

Adenosine Deaminase
Mutation
Polyarteritis Nodosa
Early Diagnosis
Inflammation
8 Citations (Scopus)

Similar phenotypes caused by mutations in otog and otogl

Oonk, A. M. M., Leijendeckers, J. M., Huygen, P. L. M., Schraders, M., Del Campo, M., Del Castillo, I., Tekin, M., Feenstra, I., Beynon, A. J., Kunst, H. P. M., Snik, A. F. M., Kremer, H., Admiraal, R. J. C. & Pennings, R. J. E., Jan 1 2014, In : Ear and Hearing. 35, 3

Research output: Contribution to journalArticle

Hearing Loss
Phenotype
Mutation
Sensorineural Hearing Loss
Genes
219 Citations (Scopus)

The promise of whole-exome sequencing in medical genetics

Rabbani, B., Tekin, M. & Mahdieh, N., Jan 1 2014, In : Journal of Human Genetics. 59, 1, p. 5-15 11 p.

Research output: Contribution to journalArticle

Exome
Medical Genetics
Exons
Technology
High-Throughput Nucleotide Sequencing
2013
15 Citations (Scopus)

An amino acid deletion in SZT2 in a family with non-syndromic intellectual disability

Falcone, M., Yariz, K. O., Ross, D. B., Foster, J., Menendez, I. & Tekin, M., Dec 6 2013, In : PLoS One. 8, 12, e82810.

Research output: Contribution to journalArticle

amino acid deletion
seizures
Chromosomes
Intellectual Disability
Tissue
6 Citations (Scopus)

A novel COL4A3 mutation causes autosomal-recessive alport syndrome in a large Turkish family

Uzak, A. S., Tokgoz, B., Dundar, M. & Tekin, M., Mar 1 2013, In : Genetic Testing and Molecular Biomarkers. 17, 3, p. 260-264 5 p.

Research output: Contribution to journalArticle

Hereditary Nephritis
Mutation
Exons
Eye Abnormalities
Collagen Type IV
4 Citations (Scopus)

ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: Clinical and genetic spectrum of five families

Subasioglu Uzak, A., Cakar, N., Comak, E., Yalcinkaya, F. & Tekin, M., Oct 1 2013, In : Renal Failure. 35, 9, p. 1281-1284 4 p.

Research output: Contribution to journalArticle

Renal Tubular Acidosis
Sensorineural Hearing Loss
Mutation
Genetic Association Studies
Turkey

Correction: Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. (PLoS ONE)

Diaz-Horta, O., Duman, D., Foster, J., Sirmaci, A., Gonzalez, M., Mahdieh, N., Fotouhi, N., Bonyadi, M., Cengiz, F. B., Menendez, I., Ulloa, R. H., Edwards, Y. J. K., Zuchner, S. L., Blanton, S. H. & Tekin, M., May 17 2013, In : PLoS One. 8, 5

Research output: Contribution to journalArticle

Exome
hearing
mutation
Mutation
Nonsyndromic Deafness
41 Citations (Scopus)

DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome

Özçakar, Z. B., Foster, J., Diaz-Horta, O., Kasapcopur, O., Fan, Y-S., Yalçinkaya, F. & Tekin, M., Aug 1 2013, In : Arthritis and Rheumatism. 65, 8, p. 2183-2189 7 p.

Research output: Contribution to journalArticle

Vasculitis
Mutation
Endonucleases
Systemic Lupus Erythematosus
Exome
12 Citations (Scopus)

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

Fan, Y-S., Ouyang, X., Peng, J., Sacharow, S., Tekin, M., Barbouth, D. S., Bodamer, O., Yusupov, R., Navarrete, C., Heller, A. H. & Pena, S. D., Sep 24 2013, In : Molecular Cytogenetics. 6, 1, 38.

Research output: Contribution to journalArticle

Consanguinity
Microarrays
Single Nucleotide Polymorphism
Pediatrics
Chromosomes
60 Citations (Scopus)

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

Gonzalez, M. A., Lebrigio, R. F. A., Van Booven, D., Ulloa, R. H., Powell, E., Speziani, F., Tekin, M., Schüle, R. & Zuchner, S. L., Jun 1 2013, In : Human Mutation. 34, 6, p. 842-846 5 p.

Research output: Contribution to journalArticle

Exome
Software
Genomics
Genome
Phenotype
27 Citations (Scopus)

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

Bulum, B., Özçakar, Z. B., Üstüner, E., Düşünceli, E., Kavaz, A., Duman, D., Walz, K., Fitoz, S., Tekin, M. & Yalçinkaya, F., Nov 1 2013, In : Pediatric Nephrology. 28, 11, p. 2143-2147 5 p.

Research output: Contribution to journalArticle

Urinary Tract
Kidney
Cakut
Urologic Diseases
Turkey

Labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome and FGF3 mutations

Latchman, K. & Tekin, M., Jan 1 2013, Inner Ear Development and Hearing Loss. Nova Science Publishers, Inc., p. 77-86 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Mutation
Inner Ear
Auditory Brain Stem Implantation
Cochlear Implants
Genetic Counseling
76 Citations (Scopus)

MLL2 and KDM6A mutations in patients with Kabuki syndrome

Miyake, N., Koshimizu, E., Okamoto, N., Mizuno, S., Ogata, T., Nagai, T., Kosho, T., Ohashi, H., Kato, M., Sasaki, G., Mabe, H., Watanabe, Y., Yoshino, M., Matsuishi, T., Takanashi, J. I., Shotelersuk, V., Tekin, M., Ochi, N., Kubota, M., Ito, N. & 23 others, Ihara, K., Hara, T., Tonoki, H., Ohta, T., Saito, K., Matsuo, M., Urano, M., Enokizono, T., Sato, A., Tanaka, H., Ogawa, A., Fujita, T., Hiraki, Y., Kitanaka, S., Matsubara, Y., Makita, T., Taguri, M., Nakashima, M., Tsurusaki, Y., Saitsu, H., Yoshiura, K. I., Matsumoto, N. & Niikawa, N., Sep 1 2013, In : American Journal of Medical Genetics, Part A. 161, 9, p. 2234-2243 10 p.

Research output: Contribution to journalArticle

Mutation
Kabuki syndrome
Ectropion
Nictitating Membrane
Exome
66 Citations (Scopus)

Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise

Yan, D., Zhu, Y., Walsh, T., Xie, D., Yuan, H., Sirmaci, A., Fujikawa, T., Wong, A. C. Y., Loh, T. L., Du, L., Grati, M., Vlajkovic, S. M., Blanton, S. H., Ryan, A. F., Chen, Z. Y., Thorne, P. R., Kachar, B., Tekin, M., Zhao, H. B., Housley, G. D. & 2 others, King, M. C. & Liu, X. Z., Feb 5 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, 6, p. 2228-2233 6 p.

Research output: Contribution to journalArticle

Purinergic P2X2 Receptors
Hearing Loss
Noise
Adenosine Triphosphate
Mutation
23 Citations (Scopus)

Next-generation sequencing in genetic hearing loss

Yan, D., Tekin, M., Blanton, S. H. & Liu, X. Z., Aug 1 2013, In : Genetic Testing and Molecular Biomarkers. 17, 8, p. 581-587 7 p.

Research output: Contribution to journalArticle

Hearing Loss
Genetic Association Studies
Deafness
Genes
Technology
3 Citations (Scopus)

Screening of families of patients with left-sided cardiovascular anomalies

Demir, F., Karadeniz, C., Atalay, S., Tekin, M. & Tutar, E., Oct 1 2013, In : Pediatrics International. 55, 5, p. 555-560 6 p.

Research output: Contribution to journalArticle

Aortic Coarctation
Aortic Valve Insufficiency
Aortic Valve Stenosis
Bicuspid Aortic Valve
Cluster Analysis
29 Citations (Scopus)

SLITRK6 mutations cause myopia and deafness in humans and mice

Tekin, M., Chioza, B. A., Matsumoto, Y., Diaz-Horta, O., Cross, H. E., Duman, D., Kokotas, H., Moore-Barton, H. L., Sakoori, K., Ota, M., Odaka, Y. S., Foster, J., Cengiz, F. B., Tokgoz-Yilmaz, S., Tekeli, O., Grigoriadou, M., Petersen, M. B., Sreekantan-Nair, A., Gurtz, K., Xia, X. J. & 5 others, Pandya, A., Patton, M. A., Young, J., Aruga, J. & Crosby, A. H., May 1 2013, In : Journal of Clinical Investigation. 123, 5, p. 2094-2102 9 p.

Research output: Contribution to journalArticle

Myopia
Deafness
Mutation
Eye Axial Length
Endophenotypes
2012
120 Citations (Scopus)

Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., Anwar, S., Andrade-Elizondo, P. B., Sirmaci, A., Parise, L. V., Basit, S., Wali, A., Ayub, M., Ansar, M. & 11 others, Ahmad, W., Khan, S. N., Akram, J., Tekin, M., Riazuddin, S., Cook, T., Buschbeck, E. K., Frolenkov, G. I., Leal, S. M., Friedman, T. B. & Ahmed, Z. M., Nov 1 2012, In : Nature Genetics. 44, 11, p. 1265-1271 7 p.

Research output: Contribution to journalArticle

Usher Syndromes
Calcium-Binding Proteins
Integrins
Deafness
Mutation
20 Citations (Scopus)

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss

Yariz, K. O., Walsh, T., Akay, H., Duman, D., Akkaynak, A. C., King, M. C. & Tekin, M., Mar 1 2012, In : Clinical Genetics. 81, 3, p. 289-293 5 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Mutation
Phenotype
69 Citations (Scopus)

Autosomal recessive nonsyndromic deafness genes: A review

Duman, D. & Tekin, M., Jun 1 2012, In : Frontiers in Bioscience. 17, 6, p. 2213-2236 24 p.

Research output: Contribution to journalArticle

Audition
Genes
Mutation
Hearing Loss
Deafness