• 6170 Citations
19972022

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22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

Falah, N., Posey, J. E., Thorson, W., Benke, P., Tekin, M., Tarshish, B., Lupski, J. R. & Harel, T., Apr 1 2017, In : American Journal of Medical Genetics, Part A. 173, 4, p. 1066-1070 5 p.

Research output: Contribution to journalArticle

11 Scopus citations

657de15 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family

Tekin, M., Doǧu, F., Taçyildiz, N., Akar, E., Ikincioǧullari, A., Oǧur, G., Yavuz, G., Babacan, E. & Akar, N., Jul 1 2002, In : Clinical Genetics. 62, 1, p. 84-88 5 p.

Research output: Contribution to journalArticle

7 Scopus citations

657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population

Tekin, M., Akcayoz, D., Ucar, C., Gulen, H. & Akar, N., Jun 1 2005, In : Human Biology. 77, 3, p. 393-397 5 p.

Research output: Contribution to journalArticle

3 Scopus citations

A 15-year-old girl with swelling of the face, legs, breast, and eyes

Sözener, Z. Ç., Tekin, M., Mungan, D. & Karnak, D., Mar 2007, In : Pediatric annals. 36, 3, p. 150-153 4 p.

Research output: Contribution to journalArticle

A 17-month-old with extreme prenatal-onset growth delay

Tekin, M., Ng, J. & Bodurtha, J., Jan 1 2000, In : European Journal of Pediatrics. 159, 12, p. 926-928 3 p.

Research output: Contribution to journalArticle

4 Scopus citations

A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart

Arnos, K. S., Welch, K. O., Tekin, M., Norris, V. W., Blanton, S. H., Pandya, A. & Nance, W. E., Aug 8 2008, In : American journal of human genetics. 83, 2, p. 200-207 8 p.

Research output: Contribution to journalArticle

25 Scopus citations

A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

Tekin, M., Sirmaci, A., Yüksel-Konuk, B., Fitoz, S. & Sennaroǧlu, L., Mar 1 2009, In : American Journal of Medical Genetics, Part A. 149, 3, p. 427-430 4 p.

Research output: Contribution to journalArticle

28 Scopus citations

Adams–Oliver syndrome caused by mutations of the EOGT gene

Schröder, K. C., Duman, D., Tekin, M., Schanze, D., Sukalo, M., Meester, J., Wuyts, W. & Zenker, M., Nov 1 2019, In : American Journal of Medical Genetics, Part A. 179, 11, p. 2246-2251 6 p.

Research output: Contribution to journalArticle

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure

Hung, C. Y., Volkmar, B., Baker, J. D., Bauer, J. W., Gussoni, E., Hainzl, S., Klausegger, A., Lorenzo, J., Mihalek, I., Rittinger, O., Tekin, M., Dallman, J. E. & Bodamer, O. A., Dec 2017, In : PloS one. 12, 12, e0189324.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Advances in hereditary deafness

Tekin, M., Arnos, K. S. & Pandya, A., Sep 29 2001, In : Lancet. 358, 9287, p. 1082-1090 9 p.

Research output: Contribution to journalArticle

107 Scopus citations

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia

Ramsebner, R., Ludwig, M., Parzefall, T., Lucas, T., Baumgartner, W. D., Bodamer, O., Cengiz, F. B., Schoefer, C., Tekin, M. & Frei, K., Feb 1 2010, In : Laryngoscope. 120, 2, p. 359-364 6 p.

Research output: Contribution to journalArticle

17 Scopus citations

A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia

Sirmaci, A., Öztürkmen-Akay, H., Erbek, S., Incesulu, A., Duman, D., Taşir-Yilmaz, S., Özdaǧ, H. & Tekin, M., Jun 11 2009, In : Clinical Genetics. 75, 6, p. 562-567 6 p.

Research output: Contribution to journalArticle

10 Scopus citations

A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus

Tekin, M., Hişmi, B. Ö., Fitoz, S., Yalçinkaya, F., Ekim, M., Kansu, A., Ertem, M., Deda, G., Tutar, E., Arsan, S., Zhou, X. P., Pilarski, R., Eng, C. & Akar, N., Jul 1 2006, In : American Journal of Medical Genetics, Part A. 140, 13, p. 1472-1475 4 p.

Research output: Contribution to journalArticle

8 Scopus citations

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

122 Scopus citations

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 MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia

Lord, S. V., Jimenez, J. E., Kroeger, Z. A., Patrick, C. S., Sanchez-Pena, I., Ziga, E., Bademci, G. & Tekin, M., Jan 1 2018, In : Clinical Dysmorphology. 27, 1, p. 9-11 3 p.

Research output: Contribution to journalArticle

4 Scopus citations

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

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

Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

Pandya, A., O'Brien, A., Kovasala, M., Bademci, G., Tekin, M. & Arnos, K. S., Apr 1 2020, In : Molecular Genetics and Genomic Medicine. 8, 4, e1171.

Research output: Contribution to journalArticle

Open Access

Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients

Özçakar, Z. B., Cengiz, F. B., Çakar, N., Uncu, N., Kara, N., Acar, B., Yüksel, S., Ekim, M., Tekin, M. & Yalçinkaya, F., Aug 1 2006, In : Pediatric Nephrology. 21, 8, p. 1093-1096 4 p.

Research output: Contribution to journalArticle

18 Scopus citations

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 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

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

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

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

Tekin, M., Akcayoz, D. & Incesulu, A., Sep 15 2005, In : American Journal of Medical Genetics. 138 A, 1, p. 6-10 5 p.

Research output: Contribution to journalArticle

42 Scopus citations

A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

Doǧanci, T., Yüksel Konuk, B. E., Alpan, N., Konuk, O., Hämäläinen, R. H., Lehesjoki, A. E. & Tekin, M., Jul 1 2007, In : Clinical Dysmorphology. 16, 3, p. 173-176 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

A novel variant in SYNE4 confirms its causative role in sensorineural hearing loss

Masterson, J., Yıldırım, B., Gökkaya, E., Yılmaz, S. T. & Tekin, M., Jan 1 2018, In : Balkan medical journal. 35, 2, p. 196-198 3 p.

Research output: Contribution to journalArticle

Antistreptococcal response is exaggerated in children with familial Mediterranean fever

Yalçinkaya, F., Ince, E., Uçar, T., Özkaya, N., Tekin, M., Elhan, A. H., Tutar, E., Güriz, D. H., Aysev, D., Gökdemir, R., Doǧru, Ü. & Tümer, N., Sep 1 2002, In : Clinical Rheumatology. 21, 5, p. 378-381 4 p.

Research output: Contribution to journalArticle

15 Scopus citations

A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing

Lopategui, D. M., Griswold, A., Arora, H., Clavijo, R. I., Tekin, M. & Ramasamy, R., Jan 1 2018, In : Andrology. 6, 1, p. 53-57 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Arthritis in children with familial mediterranean fever

Ïnce, E., Çakar, N., Tekin, M., Kendirli, T. I., Özkaya, N., Akar, N. & YalçInkaya, F., Apr 27 2002, In : Rheumatology International. 21, 6, p. 213-217 5 p.

Research output: Contribution to journalArticle

38 Scopus citations

Assessment of ventricular repolarization in a large group of children with early onset deafness

Tutar, E., Tekin, M., Uçar, T., Çomak, E., Öcal, B. & Atalay, S., Sep 1 2004, In : PACE - Pacing and Clinical Electrophysiology. 27, 9, p. 1217-1220 4 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

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

Sineni, C. J., Yildirim-Baylan, M., Guo, S., Camarena, V., Wang, G., Tokgoz-Yilmaz, S., Duman, D., Bademci, G. & Tekin, M., Oct 1 2019, In : Human genetics. 138, 10, p. 1071-1075 5 p.

Research output: Contribution to journalArticle

4 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 1 2012, In : Clinical Genetics. 81, 3, p. 289-293 5 p.

Research output: Contribution to journalArticle

20 Scopus citations

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Sirmaci, A., Erbek, S., Price, J., Huang, M., Duman, D., Cengiz, F. B., Bademci, G., Tokgöz-Yilmaz, S., Hişmi, B., Özdaǧ, H., Öztürk, B., Kulaksizoǧlu, S., Yildirim, E., Kokotas, H., Grigoriadou, M., Petersen, M. B., Shahin, H., Kanaan, M., King, M. C., Chen, Z. Y. & 5 others, Blanton, S. H., Liu, X. Z., Zuchner, S., Akar, N. & Tekin, M., May 14 2010, In : American journal of human genetics. 86, 5, p. 797-804 8 p.

Research output: Contribution to journalArticle

35 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

Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2

Tokgöz-Yilmaz, S., Şahli, S., Fitoz, S., Sennaroĝlu, G. & Tekin, M., Mar 1 2011, In : International Journal of Pediatric Otorhinolaryngology. 75, 3, p. 433-437 5 p.

Research output: Contribution to journalArticle

5 Scopus citations

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia

Fan, K. C., Patel, N. A., Yannuzzi, N. A., Prakhunhungsit, S., Negron, C. I., Basora, E., Colin, A. A., Tekin, M. & Berrocal, A. M., Sep 1 2019, In : American Journal of Ophthalmology Case Reports. 15, 100486.

Research output: Contribution to journalArticle

Open Access

Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent

Latchman, K., Calder, M., Morel, D., Rhodes, L., Juusola, J. & Tekin, M., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

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

Bilateral coronary artery dilatation and supravalvular pulmonary stenosis in a child with Noonan syndrome

Uçar, T., Atalay, S., Tekin, M. & Tutar, E., Dec 1 2005, In : Pediatric Cardiology. 26, 6, p. 848-850 3 p.

Research output: Contribution to journalArticle

17 Scopus citations

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

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

Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation

Erken, H., Yariz, K. O., Duman, D., Kaya, C. T., Sayin, T., Heper, A. O. & Tekin, M., Oct 1 2011, In : British Journal of Dermatology. 165, 4, p. 917-921 5 p.

Research output: Contribution to journalArticle

17 Scopus citations

Cat eye sendromu: Olgu sunumu

Translated title of the contribution: Cat eye syndrome: Case reportArhan, E., Kanmaz, H. G., Ekici, F., Ünal, S., Şenel, E. & Tekin, M., Jun 1 2008, In : Gazi Medical Journal. 19, 2, p. 82-83 2 p.

Research output: Contribution to journalArticle

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

Characteristics of hyperthermia and its complications in patients with Prader Willi syndrome

Ince, E., Çiftçi, E., Tekin, M., Kendirli, T., Tutar, E., Dalgiç, N., Öncel, S. & Dogru, Ü., Oct 1 2005, In : Pediatrics International. 47, 5, p. 550-553 4 p.

Research output: Contribution to journalArticle

10 Scopus citations

Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis

Tekin, M., Jackson-Cook, C. & Pandya, A., Nov 15 2001, In : American journal of medical genetics. 104, 1, p. 37-41 5 p.

Research output: Contribution to journalArticle

24 Scopus citations

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