• 5889 Citations
19972022
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Research Output 1997 2019

  • 5889 Citations
  • 208 Article
  • 4 Review article
  • 2 Comment/debate
  • 1 Chapter
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

Ectodermal Dysplasia
Mutation
Genes
Extremities
Inheritance Patterns
1 Citation (Scopus)

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

Sensorineural Hearing Loss
Hearing
Tight Junction Proteins
Tight Junctions
Deafness

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
Hypotrichosis
Kartagener Syndrome
Macular Degeneration
Mutation
Vertebrate Photoreceptor Cells

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

Intellectual Disability
Siblings
Blepharoptosis
Failure to Thrive
Sensorineural Hearing Loss
3 Citations (Scopus)

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

Hearing Loss
Genome
Genes
Genetic Testing
Registries
1 Citation (Scopus)

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

Hearing Loss
Consensus
Guidelines
Population Control
Penetrance

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs (Genetics in Medicine, (2019), 10.1038/s41436-019-0487-0)

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

Research output: Contribution to journalComment/debate

Open Access
Hearing Loss
Medicine
Cadherins
Axons
Agenesis of Corpus Callosum
Calcium
Cell Adhesion
2 Citations (Scopus)

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

Coloboma
Intellectual Disability
Epilepsy
Diptera
Phenotype

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

GRB2 Adaptor Protein
Sensorineural Hearing Loss
Phosphotransferases
Proteins
Auditory Hair Cells
Open Access
Coloboma
Medical Genetics
Intellectual Disability
Names
Epilepsy
1 Citation (Scopus)

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

Cochlea
Human Development
Sensorineural Hearing Loss
Knockout Mice
Cell Polarity

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

Ocak, E., Duman, D. & Tekin, M., Jul 11 2019, In : Balkan medical journal. 36, 4, p. 206-211 6 p.

Research output: Contribution to journalArticle

Open Access
Inner Ear
Hearing Loss
Sensorineural Hearing Loss
Research
Genes

Identification of main genetic causes responsible for non-syndromic hearing loss in a Peruvian population

Figueroa-Ildefonso, E., Bademci, G., Rajabli, F., Cornejo-Olivas, M., Villanueva, R. D. C., Badillo-Carrillo, R., Inca-Martinez, M., Neyra, K. M., Sineni, C. & Tekin, M., Aug 1 2019, In : Genes. 10, 8, 581.

Research output: Contribution to journalArticle

Open Access
Hearing Loss
Population
Peru
Sensation Disorders
Genome

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Undiagnosed Diseases Network, Jun 6 2019, In : American journal of human genetics. 104, 6, p. 1127-1138 12 p.

Research output: Contribution to journalArticle

Albinism
Hypopigmentation
Fibroblasts
Vacuoles
Osteopetrosis

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Undiagnosed Diseases Network (UDN) & Members of the Undiagnosed Diseases Network, Nov 1 2019, In : Clinical Imaging. 58, p. 108-113 6 p.

Research output: Contribution to journalArticle

Muscular Dystrophies
Magnetic Resonance Imaging
Atrophy
Lower Extremity
Muscles

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

Diaz-Horta, O., Bademci, G., Tokgoz-Yilmaz, S., Guo, S., Zafeer, F., Sineni, C. J., Duman, D., Farooq, A. & Tekin, M., Jan 1 2019, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Stereocilia
Hearing Loss
Mutation
Actins
Auditory Perception

The Generation of Zebrafish Mariner Model Using the CRISPR/Cas9 System

Zou, B., Desmidt, A. A., Mittal, R., Yan, D., Richmond, M., Tekin, M., Liu, X. & Lu, Z., Jan 1 2019, (Accepted/In press) In : Anatomical Record.

Research output: Contribution to journalArticle

Clustered Regularly Interspaced Short Palindromic Repeats
nucleases
Zebrafish
Danio rerio
mutants
1 Citation (Scopus)

VarSight: Prioritizing clinically reported variants with binary classification algorithms

Holt, J. M., Wilk, B., Birch, C. L., Brown, D. M., Gajapathy, M., Moss, A. C., Sosonkina, N., Wilk, M. A., Anderson, J. A., Harris, J. M., Kelly, J. M., Shaterferdosian, F., Uno-Antonison, A. E., Weborg, A., Acosta, M. T., Adam, M., Adams, D. R., Agrawal, P. B., Alejandro, M. E., Allard, P. & 259 others, Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Azamian, M. S., Bacino, C. A., Bademci, G., Baker, E., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Batzli, G. F., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Bejerano, G., Bellen, H. J., Bennet, J., Berg-Rood, B., Bernier, R., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonnenmann, C., Bonner, D., Botto, L., Briere, L. C., Brokamp, E., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Carey, J., Carrasquillo, O., Chang, T. C. P., Chanprasert, S., Chao, H. T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Craigen, W. J., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davids, M., Dayal, J. G., Dell'Angelica, E. C., Dhar, S. U., Dipple, K., Doherty, D., Dorrani, N., Douine, E. D., Draper, D. D., Duncan, L., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Esteves, C., Estwick, T., Fernandez, L., Ferreira, C., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Fresard, L., Gahl, W. A., Glass, I., Godfrey, R. A., Golden-Grant, K., Goldman, A. M., Goldstein, D. B., Grajewski, A., Groden, C. A., Gropman, A. L., Hahn, S., Hamid, R., Hanchard, N. A., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Isasi, R., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jiang, Y. H., Johnston, J. M., Karaviti, L., Kelley, E. G., Kiley, D., Kohane, I. S., Kohler, J. N., Krakow, D., Krasnewich, D. M., Korrick, S., Koziura, M., Krier, J. B., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., Lau, C. C., Leblanc, K., Lee, B. H., Lee, H., Levitt, R., Lewis, R. A., Lincoln, S. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Markello, T. C., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCormack, C. E., McCray, A. T., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava-Kozicz, E., Moretti, P. M., Morimoto, M., Mulvihill, J. J., Murdock, D. R., Nath, A., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Postlethwait, J. H., Potocki, L., Pusey, B. N., Quinlan, A., Raskind, W., Raja, A. N., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rowley, R. K., Ruzhnikov, M., Sacco, R., Sampson, J. B., Samson, S. L., Saporta, M., Scott, C. R., Schaechter, J., Schedl, T., Schoch, K., Scott, D. A., Shakachite, L., Sharma, P., Shashi, V., Shin, J., Signer, R., Sillari, C. H., Silverman, E. K., Sinsheimer, J. S., Sisco, K., Smith, K. S., Solnica-Krezel, L., Spillmann, R. C., Stoler, J. M., Stong, N., Sullivan, J. A., Sun, A., Sutton, S., Sweetser, D. A., Sybert, V., Tabor, H. K., Tamburro, C. P., Tan, Q. K. G., Tekin, M., Telischi, F., Thorson, W., Tifft, C. J., Toro, C., Tran, A. A., Urv, T. K., Velinder, M., Viskochil, D., Vogel, T. P., Wahl, C. E., Wallace, S., Walley, N. M., Walsh, C. A., Walker, M., Wambach, J., Wan, J., Wang, L. K., Wangler, M. F., Ward, P. A., Wegner, D., Wener, M., Westerfield, M., Wheeler, M. T., Wise, A. L., Wolfe, L. A., Woods, J. D., Yamamoto, S., Yang, J., Yoon, A. J., Yu, G., Zastrow, D. B., Zhao, C., Zuchner, S. & Worthey, E. A., Oct 15 2019, In : BMC Bioinformatics. 20, 1, 496.

Research output: Contribution to journalArticle

Open Access
Binary Classification
Classification Algorithm
Prioritization
Classifiers
Classifier
2018
2 Citations (Scopus)

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

Thrombocytopenia
African Americans
Pronation
Supination
Transplants

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

Sensorineural Hearing Loss
Hearing Loss
High-Frequency Hearing Loss
DNA
Genes
1 Citation (Scopus)

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

Kallmann Syndrome
Exome
Siblings
Delayed Puberty
Olfaction Disorders
6 Citations (Scopus)

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

Smooth Muscle
Arginine
Patent Ductus Arteriosus
Aneurysm
Stroke
1 Citation (Scopus)

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

Genetic Heterogeneity
Genetic Association Studies
Intellectual Disability
Genes
genes

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

Chromosomes
Microarrays
Phenotype
Uniparental Disomy
Derivatives
2 Citations (Scopus)

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

Sensorineural Hearing Loss
Hearing Loss
Outer Auditory Hair Cells
Genes
Jews

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

Auditory Hair Cells
Stereocilia
Deafness
Cochlea
Post Translational Protein Processing
7 Citations (Scopus)

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

Usher Syndromes
Hearing Loss
Genes
Precision Medicine
Deafness
3 Citations (Scopus)

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

Exome
Mutation
Transcription Factor TFIIH
General Transcription Factors
Oligospermia
2017
9 Citations (Scopus)

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

Waardenburg Syndrome
Peripheral Nervous System Diseases
Disorders of Sex Development
Hirschsprung Disease
Poisons
1 Citation (Scopus)

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

Kinetochores
kinetochores
Defects
Growth
Cell Division
6 Citations (Scopus)

KBG syndrome

Morel Swols, D., Foster, J. & Tekin, M., Dec 19 2017, In : Orphanet Journal of Rare Diseases. 12, 1, 183.

Research output: Contribution to journalReview article

Haploinsufficiency
Genetic Counseling
Incisor
Lip
Nose
7 Citations (Scopus)

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

Mutation
Hypertelorism
Phenotype
Cryptorchidism
Forehead
2 Citations (Scopus)

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

Branchio-Oto-Renal Syndrome
Exome
Genetic Testing
Branchial Region
Ecuador
1 Citation (Scopus)

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

Sensorineural Hearing Loss
Iran
Turkey
Mexico
Hearing Loss

Research of genetic bases of hereditary non-syndromic hearing loss

Subaşıoğlu, A., Duman, D., Sırmacı, A., Bademci, G., Carkıt, F., Somdaş, M. A., Erkan, M., Tekin, M. & Dündar, M., Sep 1 2017, In : Turk Pediatri Arsivi. 52, 3, p. 122-132 11 p.

Research output: Contribution to journalReview article

Genetic Research
Hearing Loss
Mutation
Genes
Single Nucleotide Polymorphism
12 Citations (Scopus)

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

deafness
Audition
hearing
Deafness
Microarrays
2016
3 Citations (Scopus)

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

Guatemala
Deafness
Mutation
Population
Hearing Loss
9 Citations (Scopus)

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

Cochlea
Hearing Loss
Endothelium
Cations
Mutation
20 Citations (Scopus)

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

Deafness
Hearing Loss
Genes
Exons
Databases

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

Noonan Syndrome
Brain Stem Auditory Evoked Potentials
Hearing
Ear
Speech Audiometry
6 Citations (Scopus)

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

Hearing Loss
Phenotype
Mutation
Protein Isoforms
Stereocilia
48 Citations (Scopus)

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

Exome
Mutation
Genes
Founder Effect
Ecuador
97 Citations (Scopus)

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

Autoimmunity
Systemic Lupus Erythematosus
Chromatin
Digestion
Cells
11 Citations (Scopus)

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

hearing
Zebrafish
Danio rerio
Hearing
Otolithic Membrane
7 Citations (Scopus)

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

Stereocilia
Deafness
Protein Isoforms
Molecular Motor Proteins
Hearing Loss
33 Citations (Scopus)

Next generation sequencing: Implications in personalized medicine and pharmacogenomics

Rabbani, B., Nakaoka, H., Akhondzadeh, S., Tekin, M. & Mahdieh, N., 2016, In : Molecular BioSystems. 12, 6, p. 1818-1830 13 p.

Research output: Contribution to journalReview article

Precision Medicine
Pharmacogenetics
Genome
Exome
Transcriptome
8 Citations (Scopus)

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

Auditory Hair Cells
Inner Ear
Receptor Tyrosine Kinase-like Orphan Receptors
Hearing
Spiral Ganglion
38 Citations (Scopus)

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

Deafness
DNA
Guatemala
Genes
Iran
5 Citations (Scopus)

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

Deafness
Hearing Loss
Brazil
Genes
Genetic Heterogeneity