• 6043 Citations
19972022

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Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Hilgert, N., Huentelman, M. J., Thorburn, A. Q., Fransen, E., Dieltjens, N., Mueller-Malesinska, M., Pollak, A., Skorka, A., Waligora, J., Ploski, R., Castorina, P., Primignani, P., Ambrosetti, U., Murgia, A., Orzan, E., Pandya, A., Arnos, K., Norris, V., Seeman, P., Janousek, P. & 37 others, Feldmann, D., Marlin, S., Denoyelle, F., Nishimura, C. J., Janecke, A., Nekahm-Heis, D., Martini, A., Mennucci, E., Tóth, T., Sziklai, I., del Castillo, I., Moreno, F., Petersen, M. B., Iliadou, V., Tekin, M., Incesulu, A., Nowakowska, E., Bal, J., Van de Heyning, P., Roux, A. F., Blanchet, C., Goizet, C., Lancelot, G., Fialho, G., Caria, H., Liu, X. Z., Xiaomei, O., Govaerts, P., Grønskov, K., Hostmark, K., Frei, K., Dhooge, I., Vlaeminck, S., Kunstmann, E., Van Laer, L., Smith, R. J. H. & Van Camp, G., Jan 1 2009, In : European Journal of Human Genetics. 17, 4, p. 517-524 8 p.

Research output: Contribution to journalArticle

36 Scopus citations

Possible effects of antioxidant status on increased platelet aggregation in childhood iron-deficiency anemia

Tekin, D., Yavuzer, S., Tekin, M., Akar, N. & Cin, S., Mar 6 2001, In : Pediatrics International. 43, 1, p. 74-77 4 p.

Research output: Contribution to journalArticle

40 Scopus citations

Protracted arthritis of familial Mediterranean fever (an unusual complication)

Yalçinkaya, F., Tekin, M., Tümer, N. & Özkaya, N., Nov 1997, In : British Journal of Rheumatology. 36, 11, p. 1228-1230 3 p.

Research output: Contribution to journalArticle

32 Scopus citations

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)

Dill, P., Schneider, J., Weber, P., Trachsel, D., Tekin, M., Jakobs, C., Thöny, B. & Blau, N., Nov 1 2011, In : Molecular Genetics and Metabolism. 104, 3, p. 362-368 7 p.

Research output: Contribution to journalArticle

16 Scopus citations

Recurrent and private MYO15A mutations are associated with deafness in the Turkish population

Cengiz, F. B., Duman, D., Sirmaci, A., Tokgöz-Yilmaz, S., Erbek, S., Öztürkmen-Akay, H., Incesulu, A., Edwards, Y. J. K., Özdag, H., Liu, X. Z. & Tekin, M., Aug 1 2010, In : Genetic Testing and Molecular Biomarkers. 14, 4, p. 543-550 8 p.

Research output: Contribution to journalArticle

32 Scopus citations

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

Diaz-Horta, O., Abad, C., Cengiz, F. B., Bademci, G., Blackwelder, P., Walz, K. & Tekin, M., Nov 1 2018, In : Journal of Molecular Medicine. 96, 11, p. 1227-1238 12 p.

Research output: Contribution to journalArticle

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

Diaz-Horta, O., Abad, C., Sennaroglu, L., Ii, J. F., DeSmidt, A., Bademci, G., Tokgoz-Yilmaz, S., Duman, D., Cengiz, F. B., Grati, MH., Fitoz, S., Liu, X. Z., Farooq, A., Imtiaz, F., Currall, B. B., Morton, C. C., Nishita, M., Minami, Y., Lu, Z., Walz, K. & 1 others, Tekin, M., May 24 2016, In : Proceedings of the National Academy of Sciences of the United States of America. 113, 21, p. 5993-5998 6 p.

Research output: Contribution to journalArticle

9 Scopus citations

Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey

Duman, D., Sirmaci, A., Cengiz, F. B., Ozdag, H. & Tekin, M., Jan 1 2011, In : Genetic Testing and Molecular Biomarkers. 15, 1-2, p. 29-33 5 p.

Research output: Contribution to journalArticle

48 Scopus citations

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

Yan, D., Xiang, G., Chai, X., Qing, J., Shang, H., Mittal, B. Z. R., Shen, J., Smith, R. J. H., Fan, Y-S., Blanton, S. H., Tekin, M., Morton, C., Xing, W., Cheng, J. & Liu, X. Z., Mar 1 2017, In : PLoS One. 12, 3, e0169219.

Research output: Contribution to journalArticle

13 Scopus citations

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

3 Scopus citations

Screening of OTOF mutations in Iran: A novel mutation and review

Mahdieh, N., Shirkavand, A., Rabbani, B., Tekin, M., Akbari, B., Akbari, M. T. & Zeinali, S., Nov 1 2012, In : International Journal of Pediatric Otorhinolaryngology. 76, 11, p. 1610-1615 6 p.

Research output: Contribution to journalArticle

22 Scopus citations

Sensörinöral işitme kaybi olan kişilerde mitokondriyal 12S rRNA (MTRNR1) geninin taranmasi.

Translated title of the contribution: Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing lossCirçir, Y. E., Incesulu, A. & Tekin, M., 2007, In : Kulak burun boǧaz ihtisas dergisi : KBB = Journal of ear, nose, and throat. 17, 2, p. 75-80 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

Serum amyloid A1 -13 T/C alleles in Turkish familial Mediterranean fever patients with and without amyloidosis

Akar, N., Hasipek, M., Ozturk, A., Akar, E. & Tekin, M., May 1 2006, In : Journal of Nephrology. 19, 3, p. 318-321 4 p.

Research output: Contribution to journalArticle

6 Scopus citations

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene

Teber, S., Sezer, T., Kafali, M., Chiara Manzini, M., Konuk Yüksel, B., Tekin, M., Fitöz, S., Walsh, C. A. & Deda, G., Mar 1 2008, In : European Journal of Paediatric Neurology. 12, 2, p. 133-136 4 p.

Research output: Contribution to journalArticle

17 Scopus citations

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, p. e84-e91

Research output: Contribution to journalArticle

9 Scopus citations

SLC26A4 mutations are associated with a specific inner ear malformation

Fitoz, S., Sennaroǧlu, L., Incesulu, A., Cengiz, F. B., Koç, Y. & Tekin, M., Mar 1 2007, In : International Journal of Pediatric Otorhinolaryngology. 71, 3, p. 479-486 8 p.

Research output: Contribution to journalArticle

16 Scopus citations

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. I., 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

29 Scopus citations

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Yan, D., Tekin, D., Bademci, G., Foster, J., Cengiz, F. B., Kannan-Sundhari, A., Guo, S., Mittal, R., Zou, B., Grati, M., Kabahuma, R. I., Kameswaran, M., Lasisi, T. J., Adedeji, W. A., Lasisi, A. O., Menendez, I., Herrera, M., Carranza, C., Maroofian, R., Crosby, A. H. & 11 others, Bensaid, M., Masmoudi, S., Behnam, M., Mojarrad, M., Feng, Y., Duman, D., Mawla, A. M., Nord, A. S., Blanton, S. H., Liu, X. Z. & Tekin, M., Aug 1 2016, In : Human Genetics. 135, 8, p. 953-961 9 p.

Research output: Contribution to journalArticle

39 Scopus citations

Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.

Tekin, M., Duman, T., Bogoçlu, G., Incesulu, A., Comak, E., Ilhan, I. & Akar, N., May 2003, In : Human mutation. 21, 5, p. 552-553 2 p.

Research output: Contribution to journalArticle

48 Scopus citations

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

6 Scopus citations

The c.IVS1+1G>A mutation inthe GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population

Sirmaci, A., Akcayoz-Duman, D. & Tekin, M., Dec 1 2006, In : Journal of Genetics. 85, 3, p. 213-216 4 p.

Research output: Contribution to journalArticle

38 Scopus citations

The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: Mutation or polymorphism?

Akçaboy, M. I., Cengiz, F. B., Inceoǧlu, B., Uçar, T., Atalay, S., Tutar, E. & Tekin, M., Jan 1 2008, In : Pediatric Cardiology. 29, 1, p. 126-129 4 p.

Research output: Contribution to journalArticle

24 Scopus citations

The Generation of Zebrafish Mariner Model Using the CRISPR/Cas9 System

Zou, B., Desmidt, A. A., Mittal, R., Yan, D., Richmond, M., Tekin, M., Liu, X. & Lu, Z., Jan 1 2019, (Accepted/In press) In : Anatomical Record.

Research output: Contribution to journalArticle

1 Scopus citations

The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype

Tekin, M., Kavaz, A., Berberoǧlu, M., Fitoz, S., Ekim, M., Öcal, G. & Akar, N., Oct 15 2004, In : American Journal of Medical Genetics. 130 A, 3, p. 284-287 4 p.

Research output: Contribution to journalArticle

17 Scopus citations

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

7 Scopus citations

Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of α chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix

Cabral, W. A., Mertts, M. V., Makareeva, E., Colige, A., Tekin, M., Pandya, A., Leikin, S. & Marini, J. C., Mar 21 2003, In : Journal of Biological Chemistry. 278, 12, p. 10006-10012 7 p.

Research output: Contribution to journalArticle

22 Scopus citations

Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: Implication for genetic counseling

Mahdieh, N., Shirkavand, A., Raeisi, M., Akbari, M. T., Tekin, M. & Zeinali, S., Nov 12 2010, In : Biochemical and biophysical research communications. 402, 2, p. 305-307 3 p.

Research output: Contribution to journalArticle

7 Scopus citations

Unique spectrum of GJB2 mutations in Mexico

de la Luz Arenas-Sordo, M., Menendez, I., Hernández-Zamora, E., Sirmaci, A., Gutiérrez-Tinajero, D., McGetrick, M., Murphy-Ruiz, P., Leyva-Juárez, X., Huesca-Hernández, F., Dominguez-Aburto, J. & Tekin, M., Nov 1 2012, In : International Journal of Pediatric Otorhinolaryngology. 76, 11, p. 1678-1680 3 p.

Research output: Contribution to journalArticle

13 Scopus citations

Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes

Buller, A., Pandya, A., Jackson-Cook, C., Bodurtha, J., Tekin, M., Wilkinson, D. S., Garrett, C. T. & Ferreira-Gonzalez, A., Jan 1 2000, In : Molecular Diagnosis. 5, 3, p. 239-243 5 p.

Research output: Contribution to journalArticle

10 Scopus citations

Variants in CIB2 cause DFNB48 and not USH1J

Booth, K. T., Kahrizi, K., Babanejad, M., Daghagh, H., Bademci, G., Arzhangi, S., Zareabdollahi, D., Duman, D., El-Amraoui, A., Tekin, M., Najmabadi, H., Azaiez, H. & Smith, R. J., Jan 1 2018, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

7 Scopus citations

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

12 Scopus citations

VarSight: Prioritizing clinically reported variants with binary classification algorithms

Holt, J. M., Wilk, B., Birch, C. L., Brown, D. M., Gajapathy, M., Moss, A. C., Sosonkina, N., Wilk, M. A., Anderson, J. A., Harris, J. M., Kelly, J. M., Shaterferdosian, F., Uno-Antonison, A. E., Weborg, A., Acosta, M. T., Adam, M., Adams, D. R., Agrawal, P. B., Alejandro, M. E., Allard, P. & 259 others, Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Azamian, M. S., Bacino, C. A., Bademci, G., Baker, E., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Batzli, G. F., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Bejerano, G., Bellen, H. J., Bennet, J., Berg-Rood, B., Bernier, R., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonnenmann, C., Bonner, D., Botto, L., Briere, L. C., Brokamp, E., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Carey, J., Carrasquillo, O., Chang, T. C. P., Chanprasert, S., Chao, H. T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Craigen, W. J., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davids, M., Dayal, J. G., Dell'Angelica, E. C., Dhar, S. U., Dipple, K., Doherty, D., Dorrani, N., Douine, E. D., Draper, D. D., Duncan, L., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Esteves, C., Estwick, T., Fernandez, L., Ferreira, C., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Fresard, L., Gahl, W. A., Glass, I., Godfrey, R. A., Golden-Grant, K., Goldman, A. M., Goldstein, D. B., Grajewski, A., Groden, C. A., Gropman, A. L., Hahn, S., Hamid, R., Hanchard, N. A., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Isasi, R., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jiang, Y. H., Johnston, J. M., Karaviti, L., Kelley, E. G., Kiley, D., Kohane, I. S., Kohler, J. N., Krakow, D., Krasnewich, D. M., Korrick, S., Koziura, M., Krier, J. B., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., Lau, C. C., Leblanc, K., Lee, B. H., Lee, H., Levitt, R., Lewis, R. A., Lincoln, S. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Markello, T. C., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCormack, C. E., McCray, A. T., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava-Kozicz, E., Moretti, P. M., Morimoto, M., Mulvihill, J. J., Murdock, D. R., Nath, A., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Postlethwait, J. H., Potocki, L., Pusey, B. N., Quinlan, A., Raskind, W., Raja, A. N., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rowley, R. K., Ruzhnikov, M., Sacco, R., Sampson, J. B., Samson, S. L., Saporta, M., Scott, C. R., Schaechter, J., Schedl, T., Schoch, K., Scott, D. A., Shakachite, L., Sharma, P., Shashi, V., Shin, J., Signer, R., Sillari, C. H., Silverman, E. K., Sinsheimer, J. S., Sisco, K., Smith, K. S., Solnica-Krezel, L., Spillmann, R. C., Stoler, J. M., Stong, N., Sullivan, J. A., Sun, A., Sutton, S., Sweetser, D. A., Sybert, V., Tabor, H. K., Tamburro, C. P., Tan, Q. K. G., Tekin, M., Telischi, F., Thorson, W., Tifft, C. J., Toro, C., Tran, A. A., Urv, T. K., Velinder, M., Viskochil, D., Vogel, T. P., Wahl, C. E., Wallace, S., Walley, N. M., Walsh, C. A., Walker, M., Wambach, J., Wan, J., Wang, L. K., Wangler, M. F., Ward, P. A., Wegner, D., Wener, M., Westerfield, M., Wheeler, M. T., Wise, A. L., Wolfe, L. A., Woods, J. D., Yamamoto, S., Yang, J., Yoon, A. J., Yu, G., Zastrow, D. B., Zhao, C., Zuchner, S. & Worthey, E. A., Oct 15 2019, In : BMC Bioinformatics. 20, 1, 496.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness

Tekin, M., Arnos, K. S., Xia, X. J., Oelrich, M. K., Liu, X. Z., Nance, W. E. & Pandya, A., Apr 28 2001, In : Clinical Genetics. 59, 4, p. 269-273 5 p.

Research output: Contribution to journalArticle

18 Scopus citations

Waardenburg syndrome type 3 (Klein - Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: A simple variant or a true sydrome?

Tekin, M., Bodurtha, J. N., Nance, W. E. & Pandya, A., Nov 12 2001, In : Clinical Genetics. 60, 4, p. 301-304 4 p.

Research output: Contribution to journalArticle

13 Scopus citations

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Kim, H. G., Ahn, J. W., Kurth, I., Ullmann, R., Kim, H. T., Kulharya, A., Ha, K. S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., Ozata, M., Bick, D. P., Sherins, R. J., Nagase, T., Tekin, M., Kim, S. H., Kim, C. H., Ropers, H. H. & 4 others, Gusella, J. F., Kalscheuer, V., Choi, C. Y. & Layman, L. C., Oct 8 2010, In : American journal of human genetics. 87, 4, p. 465-479 15 p.

Research output: Contribution to journalArticle

103 Scopus citations

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

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., Züchner, S., Blanton, S. & Tekin, M., Nov 30 2012, In : PloS one. 7, 11, e50628.

Research output: Contribution to journalArticle

98 Scopus citations

Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in GTF2H3 in Brothers With Spermatogenic Failure

Clavijo, R. I., Arora, H., Gibbs, E., Cohen, S., Griswold, A., Bakircioglu, E., Bademci, G., Tekin, M. & Ramasamy, R., Jan 1 2018, (Accepted/In press) In : Urology.

Research output: Contribution to journalArticle

3 Scopus citations

X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation

Smith, L. M., Cernichiaro-Espinosa, L. A., McKeown, C. A., Tekin, M., Lam, B. L., Chiang, J., Russell, J. F. & Berrocal, A. M., Jan 1 2020, (Accepted/In press) In : Ophthalmic Genetics.

Research output: Contribution to journalArticle