• 6170 Citations
19972022

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

on behalf of the ClinGen Hearing Loss Clinical Domain Working Group, Oct 1 2019, In : Genetics in Medicine. 21, 10, p. 2239-2247 9 p.

Research output: Contribution to journalArticle

6 Scopus citations

Clinical, laboratory and molecular characteristics of children with Familial Mediterranean Fever-associated vasculitis

Tekin, M., Yalçinkaya, F., Tümer, N., Akar, N., Misirlioǧlu, M. & Çakar, N., Jun 20 2000, In : Acta Paediatrica, International Journal of Paediatrics. 89, 2, p. 177-182 6 p.

Research output: Contribution to journalArticle

70 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

10 Scopus citations
10 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

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

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

Connexin 26 (GJB2) mutations in the Turkish population: Implications for the origin and high frequency of the 35delG mutation in Caucasians

Tekin, M., Akar, N., Cin, Ş., Blanton, S. H., Xia, X. J., Liu, X. Z., Nance, W. E. & Pandya, A., Jan 1 2001, In : Human Genetics. 108, 5, p. 385-389 5 p.

Research output: Contribution to journalArticle

58 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, Nov 1 2019, In : Genetics in Medicine. 21, 11, p. 2442-2452 11 p.

Research output: Contribution to journalArticle

3 Scopus citations

Counseling dilemmas in EEC syndrome

Tekin, M., Ohle, C., Johnson, D. E., Christmas, J. T. & Bodurtha, J., Mar 21 2000, In : Genetic Counseling. 11, 1, p. 19-24 6 p.

Research output: Contribution to journalArticle

5 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

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

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

Distal truncation of KCC3 in non-French Canadian HMSN/ACC families

Salin-Cantegrel, A., Rivière, J. B., Dupré, N., Charron, F. M., Shekarabi, M., Karéméra, L., Gaspar, C., Horst, J., Tekin, M., Deda, G., Krause, A., Lippert, M. M., Willemsen, M. A. A. P., Jarrar, R., Lapointe, J. Y. & Rouleau, G. A., Sep 1 2007, In : Neurology. 69, 13, p. 1350-1355 6 p.

Research output: Contribution to journalArticle

17 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

Dominant myocardial disease diagnosed by fetal presentation of proband with an aneurysm of the muscular interventricular septum

Donofrio, M. T., Allen, D. R., Tekin, M. & Bodurtha, J., Jan 1 2002, In : Pediatric Cardiology. 23, 1, p. 27-31 5 p.

Research output: Contribution to journalArticle

10 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

2 Scopus citations

Effect of 1,2-dimethyl-3-hydroxypyridin-4-one (L1) on zinc absorption

Akar, N., Tekin, M., Uysal, Z. & Uzunali, O., May 1 1998, In : Journal of Trace Elements in Experimental Medicine. 11, 1, p. 5-9 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Effect of desferrioxamine on urinary copper and zinc excretion in β-thalassemia major patients

Akar, N., Tekin, M., Uysal, Z. & Uzunali, Ö., Jan 1 2000, In : Journal of Trace Elements in Experimental Medicine. 13, 2, p. 195-198 4 p.

Research output: Contribution to journalArticle

Effects of GJB2 genotypes on the audiological phenotype: Variability is present for all genotypes

Hişmi, B. Ö., Yilmaz, S. T., Incesulu, A. & Tekin, M., Oct 1 2006, In : International Journal of Pediatric Otorhinolaryngology. 70, 10, p. 1687-1694 8 p.

Research output: Contribution to journalArticle

17 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

Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia

Tekin, M., Boǧoclu, G., Arican, S. T., Orman, M. N., Tastan, H., Elsayed, S. & Akar, N., Jan 1 2005, In : Clinical Genetics. 67, 1, p. 31-37 7 p.

Research output: Contribution to journalArticle

31 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

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

Sacharow, S., 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

27 Scopus citations

Familial Mediterranean fever (FMF)-associated amyloidosis in childhood. Clinical features, course and outcome

Çakar, N., Yalçinkaya, F., Özkaya, N., Tekin, M., Akar, N., Koçak, H., Misirlioǧlu, M., Akar, E. & Tümer, N., Dec 1 2001, In : Clinical and Experimental Rheumatology. 19, 5 SUPPL. 24, p. S63-S67

Research output: Contribution to journalArticle

38 Scopus citations

Familial Mediterranean Fever (FMF) in Turkey: Results of a nationwide multicenter study

Tunca, M., Ozdogan, H., Kasapcopur, O., Yalcinkaya, F., Tutar, E., Topaloglu, R., Yilmaz, E., Arici, M., Bakkaloglu, A., Besbas, N., Akpolat, T., Dinc, A., Erken, E., Tirpan, K., Ozer, H. T. E., Soyturk, M., Senturk, T., Balci, B., Ozguc, M., Dundar, M. & 85 others, Akar, E., Ozel, D., Dundar, M., Gunesacar, R., Booth, D. R., Hawkins, P. N., Touitou, I., Aksentijevich, I., Matzner, Y., Arslan, S., Balaban, Y., Batman, F., Bayraktar, Y., Apras, S., Calguneri, M., Duzova, A., Kav, T., Ozaltin, F., Simsek, H., Sivri, B., Tatar, G., Akkoc, N., Kavukcu, S., Soylu, A., Turkmen, M., Unsal, E., Arisoy, N., Caliskan, S., Gogus, F., Masatlioglu, S., Sever, L., Akkok, N., Cakar, N., Kara, N., Kocak, H., Ozalp, S., Bilge, I., Sevinc, E., Gul, A., Kamali, S., Sadikoglu, B., Selcukbiricik, F., Sirin, A., Sucu, A., Bek, K., Bulbul, M., Delibas, A., Demircin, G., Erdogan, O., Oner, A., Mesiha, E., Ozkaya, N., Tekin, M., Demirkaya, E., Erdem, H., Gok, F., Pay, S., Islek, I., Kabasakal, Y., Keser, G., Ozmen, M., Akoglu, E., Atagunduz, P., Direskeneli, H., Temel, M., Tuglular, S., Buyan, N., Bakkaloglu, S., Derici, U., Goker, B., Kalman, S., Ozkaya, O., Dusunsel, R., Gunduz, Z., Poyrazoglu, M. H., Korkmaz, C., Baskin, E., Koseoglu, H. K., Saatci, U., Yucel, E., Coban, E., Yakupoglu, G., Oktem, F., Tunc, E. & Cobankara, V., Jan 1 2005, In : Medicine. 84, 1, p. 1-11 11 p.

Research output: Contribution to journalArticle

504 Scopus citations

Familial mediterranean fever and acute rheumatic fever: A pathogenetic relationship?

Tekin, M., Yalçinkaya, F., Tümer, N., Çakar, N. & Koçak, H., Dec 1 1999, In : Clinical Rheumatology. 18, 6, p. 446-449 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

Familial Mediterranean fever and systemic amyloidosis in untreated Turkish patients

Yalçinkaya, F., Tekin, M., Çakar, N., Akar, E., Akar, N. & Tümer, N., Jan 1 2000, In : QJM - Monthly Journal of the Association of Physicians. 93, 10, p. 681-684 4 p.

Research output: Contribution to journalArticle

Open Access
26 Scopus citations

Familial Mediterranean fever - Renal involvement by diseases other than amyloid

Tekin, M., Yalçinkaya, F., Türmer, N., Çakar, N., Koçak, H., Özkaya, N. & Gençgönül, H., Feb 10 1999, In : Nephrology Dialysis Transplantation. 14, 2, p. 475-479 5 p.

Research output: Contribution to journalArticle

52 Scopus citations

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

Tekin, M., Cengiz, F. B., Ayberkin, E., Kendirli, T., Fitoz, S., Tutar, E., Çiftçi, E. & Conba, A., Apr 15 2007, In : American Journal of Medical Genetics, Part A. 143, 8, p. 875-880 6 p.

Research output: Contribution to journalArticle

31 Scopus citations

Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation

Tekin, M., Jackson-Cook, C., Buller, A., Ferreira-Gonzalez, A., Pandya, A., Garrett, C. T. & Bodurtha, J., Nov 13 2000, In : American journal of medical genetics. 95, 2, p. 145-149 5 p.

Research output: Contribution to journalArticle

10 Scopus citations

FOXF2 is required for cochlear development in humans and mice

Bademci, G., Abad, C., Incesulu, A., Elian, F., Reyahi, A., Diaz-Horta, O., Cengiz, F. B., Sineni, C. J., Seyhan, S., Atli, E. I., Basmak, H., Demir, S., Nik, A. M., Footz, T., Guo, S., Duman, D., Fitoz, S., Gurkan, H., Blanton, S. H., Walter, M. A. & 3 others, Carlsson, P., Walz, K. & Tekin, M., Apr 15 2019, In : Human molecular genetics. 28, 8, p. 1286-1297 12 p.

Research output: Contribution to journalArticle

3 Scopus citations

Frequency of five thrombophilic polymorphisms in the Egyptian population

Ulu, A., Elsobky, E., Elsayed, M., Yildiz, Z., Tekin, M. & Akar, N., Dec 1 2006, In : Turkish Journal of Hematology. 23, 2, p. 100-103 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey

Tekin, M., Duman, T., Boǧoçlu, G., Incesulu, A., Çomak, E., Fitoz, S., Yilmaz, E., IIhan, I. & Akar, N., Mar 1 2003, In : European Journal of Pediatrics. 162, 3, p. 154-158 5 p.

Research output: Contribution to journalArticle

59 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
24 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

Genomic analysis of a heterogeneous Mendelian phenotype: Multiple novel alleles for inherited hearing loss in the Palestinian population

Walsh, T., Rayan, A. A., Sa'ed, J. A., Shahin, H., Shepshelovich, J., Lee, M. K., Hirschberg, K., Tekin, M., Salhab, W., Avraham, K. B., King, M. C. & Kanaan, M., Jan 1 2006, In : Human genomics. 2, 4, p. 203-211 9 p.

Research output: Contribution to journalArticle

36 Scopus citations

Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2

Dinh, C. T., Nisenbaum, E., Chyou, D., Misztal, C., Yan, D., Mittal, R., Young, J., Tekin, M., Telischi, F., Fernandez-Valle, C. & Liu, X. Z., Jun 1 2020, In : Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 41, 5, p. e529-e537

Research output: Contribution to journalArticle

Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: Evidence for mutation-independent amyloidosis

Yalçinkaya, F., Çakar, N., Misirlioǧlu, M., Tümer, N., Akar, N., Tekin, M., Taştan, H., Koçak, H., Özkaya, N. & Elhan, A. H., Jan 2000, In : Rheumatology. 39, 1, p. 67-72 6 p.

Research output: Contribution to journalArticle

Open Access
137 Scopus citations

GJB2 mutations and degree of hearing loss: A multicenter study

Snoeckx, R. L., Huygen, P. L. M., Feldmann, D., Marlin, S., Denoyelle, F., Waligora, J., Mueller-Malesinska, M., Pollak, A., Ploski, R., Murgia, A., Orzan, E., Castorina, P., Ambrosetti, U., Nowakowska-Szyrwinska, E., Bal, J., Wiszniewski, W., Janecke, A. R., Nekahm-Heis, D., Seeman, P., Bendova, O. & 44 others, Kenna, M. A., Frangulov, A., Rehm, H. L., Tekin, M., Incesulu, A., Dahl, H. H. M., Du Sart, D., Jenkins, L., Lucas, D., Bitner-Glindzicz, M., Avraham, K. B., Brownstein, Z., Del Castillo, I., Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P. M., Cohn, E. S., Van Maldergem, L., Hilbert, P., Roux, A. F., Mondain, M., Hoefsloot, L. H., Cremers, C. W. R. J., Löppönen, T., Löppönen, H., Parving, A., Gronskov, K., Schrijver, I., Roberson, J., Gualandi, F., Martini, A., Lina-Granade, G., Pallares-Ruiz, N., Correia, C., Fialho, G., Cryns, K., Hilgert, N., Van De Heyning, P., Nishimura, C. J., Smith, R. J. H. & Van Camp, G., Dec 2005, In : American journal of human genetics. 77, 6, p. 945-957 13 p.

Research output: Contribution to journalArticle

334 Scopus citations

GJB2 mutations in mongolia: Complex alleles, low frequency, and reduced fitness of the deaf

Tekin, M., Xia, X. J., Erdenetungalag, R., Cengiz, F. B., White, T. W., Radnaabazar, J., Dangaasuren, B., Tastan, H., Nance, W. E. & Pandya, A., Mar 1 2010, In : Annals of Human Genetics. 74, 2, p. 155-164 10 p.

Research output: Contribution to journalArticle

40 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

56 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

12 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

Heart rate variability in children with congenital sensorineural deafness

Uçar, T., Tutar, E., Tekin, M. & Atalay, S., Aug 17 2010, In : Turkish Journal of Pediatrics. 52, 2, p. 173-178 6 p.

Research output: Contribution to journalArticle

2 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