• 6448 Citations
19972020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
2016

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

14 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, MH., 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

41 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

7 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 2016, In : PloS one. 11, 12, e0167984.

Research output: Contribution to journalArticle

8 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

14 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

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

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., 2015, In : Developmental Cell. 32, 1, p. 31-42 12 p.

Research output: Contribution to journalArticle

60 Scopus citations

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

23 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

31 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. O., Yariz, K. O., Montenegro, P., Menendez, I., Vinueza, R., Paredes, R., Moreta, G., Subasioglu, A., Blanton, S., Fitoz, S., Incesulu, A., Sennaroglu, L. & Tekin, M., Dec 12 2015, In : BMC medical genetics. 16, 1, p. 1 1 p., 9.

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

20 Scopus citations

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

Chakchouk, I., Grati, MH., 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

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

37 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. A., Farooq, A., Blanton, S. & Tekin, M., Jun 2014, In : Human Genetics. 133, 6, p. 737-742 6 p.

Research output: Contribution to journalArticle

49 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

44 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

5 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

277 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

42 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., 2014, In : Ear and hearing. 35, 3, p. e84-e91

Research output: Contribution to journalArticle

9 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

16 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 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

52 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. C., 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

13 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 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

30 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 2013, In : American Journal of Medical Genetics, Part A. 161, 9, p. 2234-2243 10 p.

Research output: Contribution to journalArticle

82 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

77 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

4 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

32 Scopus citations
2012

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 2012, In : Nature genetics. 44, 11, p. 1265-1271 7 p.

Research output: Contribution to journalArticle

127 Scopus citations

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 2012, In : Clinical Genetics. 81, 3, p. 289-293 5 p.

Research output: Contribution to journalArticle

20 Scopus citations

Challenges in whole exome sequencing: An example from hereditary deafness

Sirmaci, A., Edwards, Y. J. K., Akay, H. & Tekin, M., Feb 21 2012, In : PloS one. 7, 2, e32000.

Research output: Contribution to journalArticle

31 Scopus citations
10 Scopus citations

Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome

Sacharow, S. C., Li, D., Fan, Y. S. & Tekin, M., Mar 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 3, p. 547-552 6 p.

Research output: Contribution to journalArticle

30 Scopus citations

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome

Doherty, D., Chudley, A. E., Coghlan, G., Ishak, G. E., Innes, A. M., Lemire, E. G., Rogers, R. C., Mhanni, A. A., Phelps, I. G., Jones, S. J. M., Zhan, S. H., Fejes, A. P., Shahin, H., Kanaan, M., Akay, H., Tekin, M., Triggs-Raine, B. & Zelinski, T., Jun 8 2012, In : American journal of human genetics. 90, 6, p. 1088-1093 6 p.

Research output: Contribution to journalArticle

60 Scopus citations

GPSM2 mutations in Chudley-McCullough syndrome

Diaz-Horta, O., Sirmaci, A., Doherty, D., Nance, W., Arnos, K., Pandya, A. & Tekin, M., Nov 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 11, p. 2972-2973 2 p.

Research output: Contribution to journalArticle

13 Scopus citations

Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum whereas neither MASP-1 nor MASP-3 is required for alternative pathway function

Degn, S. E., Jensen, L., Hansen, A. G., Duman, D., Tekin, M., Jensenius, J. C. & Thiel, S., Oct 15 2012, In : Journal of Immunology. 189, 8, p. 3957-3969 13 p.

Research output: Contribution to journalArticle

107 Scopus citations

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

Yariz, K. O., Duman, D., Seco, C. Z., Dallman, J., Huang, M., Peters, T. A., Sirmaci, A., Lu, N., Schraders, M., Skromne, I., Oostrik, J., Diaz-Horta, O., Young, J. I., Tokgoz-Yilmaz, S., Konukseven, O., Shahin, H., Hetterschijt, L., Kanaan, M., Oonk, A. M. M., Edwards, Y. J. K. & 10 others, Li, H., Atalay, S., Blanton, S., Desmidt, A. A., Liu, X. Z., Pennings, R. J. E., Lu, Z., Chen, Z. Y., Kremer, H. & Tekin, M., Nov 2 2012, In : American journal of human genetics. 91, 5, p. 872-882 11 p.

Research output: Contribution to journalArticle

66 Scopus citations