• 6043 Citations
19972022

Research output per year

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Research Output

  • 6043 Citations
  • 210 Article
  • 4 Review article
  • 2 Comment/debate
  • 1 Chapter
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Article
2015

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

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

28 Scopus citations

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

8 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 2015, In : Indian Pediatrics. 51, 11, p. 919-920 2 p.

Research output: Contribution to journalArticle

2 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

14 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. Z., May 1 2016, In : Human Genetics. 135, 5, p. 513-524 12 p.

Research output: Contribution to journalArticle

11 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

20 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

48 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

107 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

14 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

9 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

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 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

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
2017

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

9 Scopus citations

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

Hung, C. Y., Volkmar, B., Baker, J., Bauer, J. W., Gussoni, E., Hainzl, S., Klausegger, A., Lorenzo, J., Mihalek, I., Rittinger, O., Tekin, M., Dallman, J. & Bodamer, O. A., Jan 1 2017, In : PLoS One. 12, 12, p. e0189324

Research output: Contribution to journalArticle

1 Scopus citations

KBG syndrome: An Australian experience

Murray, N., Burgess, B., Hay, R., Colley, A., Rajagopalan, S., McGaughran, J., Patel, C., Enriquez, A., Goodwin, L., Stark, Z., Tan, T., Wilson, M., Roscioli, T., Tekin, M. & Goel, H., Jul 1 2017, In : American Journal of Medical Genetics, Part A. 173, 7, p. 1866-1877 12 p.

Research output: Contribution to journalArticle

7 Scopus citations

Novel EYA1 variants causing Branchio-oto-renal syndrome

Klingbeil, K. D., Greenland, C. M., Arslan, S., Llamos Paneque, A., Gurkan, H., Demir Ulusal, S., Maroofian, R., Carrera-Gonzalez, A., Montufar-Armendariz, S., Paredes, R., Elcioglu, N., Menendez, I., Behnam, M., Foster, J., Guo, S., Escarfuller, S., Cengiz, F. B., Duman, D., Bademci, G. & Tekin, M., Jul 1 2017, In : International Journal of Pediatric Otorhinolaryngology. 98, p. 59-63 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

Cengiz, F. B., Yilmazer, R., Olgun, L., Sennaroglu, L., Kirazli, T., Alper, H., Olgun, Y., Incesulu, A., Atik, T., Huesca-Hernandez, F., Domínguez-Aburto, J., González-Rosado, G., Hernandez-Zamora, E., Arenas-Sordo, M. D. L. L., Menendez, I., Orhan, K. S., Avci, H., Mahdieh, N., Bonyadi, M., Foster, J. & 5 others, Duman, D., Ozkinay, F., Blanton, S. H., Bademci, G. & Tekin, M., Oct 1 2017, In : International Journal of Pediatric Otorhinolaryngology. 101, p. 167-171 5 p.

Research output: Contribution to journalArticle

1 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
2018

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

3 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

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

1 Scopus citations

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Montalcino Aortic Consortium, Oct 1 2018, In : Genetics in Medicine. 20, 10, p. 1206-1215 10 p.

Research output: Contribution to journalArticle

7 Scopus citations

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

McSherry, M., Masih, K. E., Elcioglu, N. H., Celik, P., Balci, O., Cengiz, F. B., Nunez, D., Sineni, C. J., Seyhan, S., Kocaoglu, D., Guo, S., Duman, D., Bademci, G. & Tekin, M., Nov 1 2018, In : PLoS One. 13, 11, e0208324.

Research output: Contribution to journalArticle

2 Scopus citations

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Su, M., Benke, P. J., Bademci, G., Cengiz, F. B., Ouyang, X., Peng, J., Casas, C. E., Tekin, M. & Fan, Y-S., Aug 1 2018, In : Molecular Cytogenetics. 11, 1, 43.

Research output: Contribution to journalArticle

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Bademci, G., Abad, C., Incesulu, A., Rad, A., Alper, O., Kolb, S. M., Cengiz, F. B., Diaz-Horta, O., Silan, F., Mihci, E., Ocak, E., Najafi, M., Maroofian, R., Yilmaz, E., Nur, B. G., Duman, D., Guo, S., Sant, D. W., Wang, G., Monje, P. V. & 5 others, Haaf, T., Blanton, S. H., Vona, B., Walz, K. & Tekin, M., Jul 1 2018, In : Human Genetics. 137, 6-7, p. 479-486 8 p.

Research output: Contribution to journalArticle

3 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

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

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
2019

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 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., Jan 1 2019, In : Human Genetics.

Research output: Contribution to journalArticle

3 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

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

on behalf of the ClinGen Hearing Loss Clinical Domain Working Group, Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

6 Scopus citations

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

on behalf of the ClinGen Hearing Loss Working Group, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

3 Scopus citations

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Undiagnosed Diseases Network, Aug 1 2019, In : American journal of human genetics. 105, 2, p. 413-424 12 p.

Research output: Contribution to journalArticle

2 Scopus citations

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

Li, C., Bademci, G., Subasioglu, A., Diaz-Horta, O., Zhu, Y., Liu, J., Mitchell, T. G., Abad, C., Seyhan, S., Duman, D., Cengiz, F. B., Tokgoz-Yilmaz, S., Blanton, S. H., Farooq, A., Walz, K., Zhai, R. G. & Tekin, M., Jan 22 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 4, p. 1347-1352 6 p.

Research output: Contribution to journalArticle

1 Scopus citations