• 6170 Citations
19972022

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Article
2012

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

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

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

99 Scopus citations
2013

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

15 Scopus citations

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

6 Scopus citations

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

4 Scopus citations

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

50 Scopus citations

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., 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

12 Scopus citations

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. & Züchner, S., Jun 1 2013, In : Human mutation. 34, 6, p. 842-846 5 p.

Research output: Contribution to journalArticle

60 Scopus citations

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

28 Scopus citations

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

79 Scopus citations

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., 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

71 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

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

30 Scopus citations
2014

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., 2014, In : Genetic Counseling. 25, 1, p. 41-47 7 p.

Research output: Contribution to journalArticle

3 Scopus citations

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. & Tekin, M., Nov 1 2014, In : International Journal of Pediatric Otorhinolaryngology. 78, 11, p. 1870-1873 4 p.

Research output: Contribution to journalArticle

17 Scopus citations

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

36 Scopus citations

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 2014, In : Indian Pediatrics. 51, 11, p. 919-920 2 p.

Research output: Contribution to journalArticle

2 Scopus citations

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. & Tekin, M., Jun 2014, In : Human Genetics. 133, 6, p. 737-742 6 p.

Research output: Contribution to journalArticle

46 Scopus citations

Evidence for genotype-phenotype correlation for OTOF mutations

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

Research output: Contribution to journalArticle

6 Scopus citations

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., 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

41 Scopus citations

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

4 Scopus citations

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. & Tekin, M., Sep 1 2014, In : Genetic Testing and Molecular Biomarkers. 18, 9, p. 658-661 4 p.

Research output: Contribution to journalArticle

21 Scopus citations

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

256 Scopus citations

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

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

Research output: Contribution to journalArticle

41 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
2015

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

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

52 Scopus citations

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

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

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. I., Callen, D. F. & Tekin, M., Jan 13 2015, In : Human genetics. 134, 2, p. 181-190 10 p.

Research output: Contribution to journalArticle

22 Scopus citations

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

29 Scopus citations

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

4 Scopus citations

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

5 Scopus citations

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

8 Scopus citations

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

19 Scopus citations

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

15 Scopus citations

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

2016

A Mayan founder mutation is a common cause of deafness in Guatemala

Carranza, C., Menendez, I., Herrera, M., Castellanos, P., Amado, C., Maldonado, F., Rosales, L., Escobar, N., Guerra, M., Alvarez, D., Foster, J., Guo, S., Blanton, S. H., Bademci, G. & Tekin, M., Apr 1 2016, In : Clinical Genetics. 89, 4, p. 461-465 5 p.

Research output: Contribution to journalArticle

4 Scopus citations

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

Ben Said, M., Grati, M., Ishimoto, T., Zou, B., Chakchouk, I., Ma, Q., Yao, Q., Hammami, B., Yan, D., Mittal, R., Nakamichi, N., Ghorbel, A., Neng, L., Tekin, M., Shi, X. R., Kato, Y., Masmoudi, S., Lu, Z., Hmani, M. & Liu, X., May 1 2016, In : Human genetics. 135, 5, p. 513-524 12 p.

Research output: Contribution to journalArticle

12 Scopus citations

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

Tekin, D., Yan, D., Bademci, G., Feng, Y., Guo, S., Foster, J., Blanton, S. H., Tekin, M. & Liu, X. Z., Mar 1 2016, In : Hearing Research. 333, p. 179-184 6 p.

Research output: Contribution to journalArticle

21 Scopus citations

Audiological findings in Noonan syndrome

Tokgoz-Yilmaz, S., Turkyilmaz, M. D., Cengiz, F. B., Sjöstrand, A. P., Kose, S. K. & Tekin, M., Oct 1 2016, In : International Journal of Pediatric Otorhinolaryngology. 89, p. 50-54 5 p.

Research output: Contribution to journalArticle

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

Wesdorp, M., van de Kamp, J. M., Hensen, E. F., Schraders, M., Oostrik, J., Yntema, H. G., Feenstra, I., Admiraal, R. J. C., Kunst, H. P. M., Tekin, M., Kanaan, M., Kremer, H. & Pennings, R. J. E., May 30 2016, (Accepted/In press) In : Hearing Research.

Research output: Contribution to journalArticle

6 Scopus citations

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Bademci, G., Foster, J., Mahdieh, N., Bonyadi, M., Duman, D., Cengiz, F. B., Menendez, I., Diaz-Horta, O., Shirkavand, A., Zeinali, S., Subasioglu, A., Tokgoz-Yilmaz, S., Huesca-Hernandez, F., De La Luz Arenas-Sordo, M., Dominguez-Aburto, J., Hernandez-Zamora, E., Montenegro, P., Paredes, R., Moreta, G., Vinueza, R. & 11 others, Villegas, F., Mendoza-Benitez, S., Guo, S., Bozan, N., Tos, T., Incesulu, A., Sennaroglu, G., Blanton, S. H., Ozturkmen-Akay, H., Yildirim-Baylan, M. & Tekin, M., Apr 1 2016, In : Genetics in Medicine. 18, 4, p. 364-371 8 p.

Research output: Contribution to journalArticle

51 Scopus citations

Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity

Sisirak, V., Sally, B., D'Agati, V., Martinez-Ortiz, W., Özçakar, Z. B., David, J., Rashidfarrokhi, A., Yeste, A., Panea, C., Chida, AS. S., Bogunovic, M., Ivanov, II. I., Quintana, FJ. J., Sanz, I., Elkon, KB. B., Tekin, M., Yalçınkaya, F., Cardozo, TJ. J., Clancy, RM. M., Buyon, JP. P. & 1 others, Reizis, B., Jun 30 2016, In : Cell. 166, 1, p. 88-101 14 p.

Research output: Contribution to journalArticle

116 Scopus citations

Hearing Assessment in Zebrafish during the First Week Postfertilization

Yao, Q., Desmidt, A. A., Tekin, M., Liu, X. Z. & Lu, Z., Apr 1 2016, In : Zebrafish. 13, 2, p. 79-86 8 p.

Research output: Contribution to journalArticle

15 Scopus citations

MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform

Grati, M., Yan, D., Raval, M. H., Walsh, T., Ma, Q., Chakchouk, I., Kannan-Sundhari, A., Mittal, R., Masmoudi, S., Blanton, S. H., Tekin, M., King, M. C., Yengo, C. M. & Liu, X. Z., 2016, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

8 Scopus citations

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

10 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