Mustafa Tekin (M Tekin)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 49

Top Topics

Intellectual Disability

Dna Methylation

Muscular Dystrophy

Top Venues

American journal of medical genetics. Part A

European journal of human genetics : EJHG

Balkan medical journal

Nature communications

This page only lists publications with an associated author ORCID identifier.

Publications

Duygu Duman, Memoona Ramzan, Asli Subasioglu, Ahmet Mutlu, LéShon Peart, Serhat Seyhan, Shengru Guo, Kadri Ila, Burhan Balta, Mahmut Tayyar Kalcioglu, Güney Bademci, Mustafa Tekin
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss. American journal of medical genetics. Part A 194 (6) (2024)
Nicholas A Borja, Rachel Silva-Smith, Carmen J Calfa, Daniel A Sussman, Mustafa Tekin
Triple Primary Cancers: An Analysis of Genetic and Environmental Factors. Cancer prevention research (Philadelphia, Pa.) 17 (5) (2024)
Duygu Duman, Memoona Ramzan, Asli Subasioglu, Ahmet Mutlu, LéShon Peart, Serhat Seyhan, Shengru Guo, Kadri Ila, Burhan Balta, Mahmut Tayyar Kalcioglu, Güney Bademci, Mustafa Tekin
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss. American journal of medical genetics. Part A 194 (6) (2024)
LéShon Peart, Mustafa Tekin
Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review. Balkan medical journal 41 (3) (2024)
Carson Smith, Mohammad Faraz Zafeer, Mustafa Tekin
Gene therapy for hereditary deafness. Nature medicine 30 (7) (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG (2024)
Irman Forghani, Steven H Lang, Matthew J Rodier, Stephanie A Bivona, null null, Alejo A Morales, Stephan Zuchner, Güney Bademci, Mustafa Tekin
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder. American journal of medical genetics. Part A 194 (6) (2024)
Carson Smith, Mohammad Faraz Zafeer, Mustafa Tekin
Gene therapy for hereditary deafness. Nature medicine 30 (7) (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG (2024)
Duygu Duman, Memoona Ramzan, Asli Subasioglu, Ahmet Mutlu, LéShon Peart, Serhat Seyhan, Shengru Guo, Kadri Ila, Burhan Balta, Mahmut Tayyar Kalcioglu, Güney Bademci, Mustafa Tekin
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss. American journal of medical genetics. Part A 194 (6) (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG 32 (6) (2024)
Nicholas A Borja, Rachel Silva-Smith, Carmen J Calfa, Daniel A Sussman, Mustafa Tekin
Triple Primary Cancers: An Analysis of Genetic and Environmental Factors. Cancer prevention research (Philadelphia, Pa.) (2024)
Irman Forghani, Steven H Lang, Matthew J Rodier, Stephanie A Bivona, null null, Alejo A Morales, Stephan Zuchner, Güney Bademci, Mustafa Tekin
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder. American journal of medical genetics. Part A 194 (6) (2024)
LéShon Peart, Mustafa Tekin
Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review. Balkan medical journal 41 (3) (2024)
Duygu Duman, Memoona Ramzan, Asli Subasioglu, Ahmet Mutlu, LéShon Peart, Serhat Seyhan, Shengru Guo, Kadri Ila, Burhan Balta, Mahmut Tayyar Kalcioglu, Güney Bademci, Mustafa Tekin
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss. American journal of medical genetics. Part A 194 (6) (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
Carson Smith, Mohammad Faraz Zafeer, Mustafa Tekin
Gene therapy for hereditary deafness. Nature medicine (2024)
Duygu Duman, Memoona Ramzan, Asli Subasioglu, Ahmet Mutlu, LéShon Peart, Serhat Seyhan, Shengru Guo, Kadri Ila, Burhan Balta, Mahmut Tayyar Kalcioglu, Güney Bademci, Mustafa Tekin
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss. American journal of medical genetics. Part A 194 (6) (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG 32 (6) (2024)
LéShon Peart, Mustafa Tekin
Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review. Balkan medical journal 41 (3) (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG 32 (6) (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
Irman Forghani, Steven H Lang, Matthew J Rodier, Stephanie A Bivona, null null, Alejo A Morales, Stephan Zuchner, Güney Bademci, Mustafa Tekin
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder. American journal of medical genetics. Part A 194 (6) (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG 32 (6) (2024)
Irman Forghani, Steven H Lang, Matthew J Rodier, Stephanie A Bivona, null null, Alejo A Morales, Stephan Zuchner, Güney Bademci, Mustafa Tekin
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder. American journal of medical genetics. Part A (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
Duygu Duman, Memoona Ramzan, Asli Subasioglu, Ahmet Mutlu, LéShon Peart, Serhat Seyhan, Shengru Guo, Kadri Ila, Burhan Balta, Mahmut Tayyar Kalcioglu, Güney Bademci, Mustafa Tekin
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss. American journal of medical genetics. Part A (2024)
Irman Forghani, Steven H Lang, Matthew J Rodier, Stephanie A Bivona, null null, Alejo A Morales, Stephan Zuchner, Güney Bademci, Mustafa Tekin
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder. American journal of medical genetics. Part A 194 (6) (2024)
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LéShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, null null, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Maria Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G Bonnemann, Georg M Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Nature communications 15 (1) (2024)
LéShon Peart, Mustafa Tekin
Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review. Balkan medical journal 41 (3) (2024)
Irman Forghani, Steven H Lang, Matthew J Rodier, Stephanie A Bivona, null null, Alejo A Morales, Stephan Zuchner, Güney Bademci, Mustafa Tekin
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder. American journal of medical genetics. Part A (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG (2024)
Nicholas Borja, Paulo Borjas-Mendoza, Stephanie Bivona, LéShon Peart, Joanna Gonzalez, Brittney Keira Johnson, Shengru Guo, Roman Yusupov, null null, Guney Bademci, Mustafa Tekin
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome. American journal of medical genetics. Part A (2023)
Nicholas A Borja, Mohammad Faraz Zafeer, Jeimy Alfonso Rodriguez, Dayna Morel Swols, Willa Thorson, Guney Bademci, Mustafa Tekin
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome. American journal of medical genetics. Part A (2023)
Nicholas A Borja, Mohammad Faraz Zafeer, Jeimy Alfonso Rodriguez, Dayna Morel Swols, Willa Thorson, Guney Bademci, Mustafa Tekin
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome. American journal of medical genetics. Part A 191 (4) (2023)
Nicholas A Borja, Mohammad Faraz Zafeer, Jeimy Alfonso Rodriguez, Dayna Morel Swols, Willa Thorson, Guney Bademci, Mustafa Tekin
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome. American journal of medical genetics. Part A 191 (4) (2023)
Nicholas A Borja, Mohammad Faraz Zafeer, Jeimy Alfonso Rodriguez, Dayna Morel Swols, Willa Thorson, Guney Bademci, Mustafa Tekin
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome. American journal of medical genetics. Part A 191 (4) (2023)
A Semra Hiz, Seval Kiliç, Güney Bademci, Tülay Karakulak, Aybike Erdoğan, Burcu Özden, Çiğdem Eresen, Esra Erdal, Uluç Yiş, Mustafa Tekin, Gökhan Karakülah, Ezgi Karaca, Mehmet Ozturk
VARS1 mutations associated with neurodevelopmental disorder are located on a short amino acid stretch of the anticodon-binding domain. Turkish journal of biology = Turk biyoloji dergisi 46 (6) (2022)
Lé Shon Peart, Joanna Gonzalez, Stephanie Bivona, Kumarie Latchman, Leonardo Torres, null null, Mustafa Tekin
Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant. American journal of medical genetics. Part A 188 (4) (2022)
Barbara Vona, D A Schwartzbaum, A A Rodriguez, S S Lewis, M B Toosi, P Radhakrishnan, Nazim Bozan, Ramazan Akın, M Doosti, R Manju, Duygu Duman, C J Sineni, Sheela Nampoothiri, E G Karimiani, Henry Houlden, Güney Bademci, Mustafa Tekin, Katta Mohan Girisha, Reza Maroofian, Sofia Douzgou Houge
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss. Journal of the European Academy of Dermatology and Venereology : JEADV 36 (9) (2022)
Güney Bademci, María Lachgar, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J Ingham, Jing Chen, Claire J Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav V Harlalka, Shirish P Jain, Barry A Chioza, Katherina Walz, Karen P Steel, Jamal Nasir, Mustafa Tekin
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice. Proceedings of the National Academy of Sciences of the United States of America 119 (26) (2022)
Arti Pandya, Alexander O'Brien, Michael Kovasala, Güney Bademci, Mustafa Tekin, Kathleen S Arnos
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. Molecular genetics & genomic medicine 8 (4) (2020)
Emre Ocak, Duygu Duman, Mustafa Tekin
Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies Balkan medical journal 36 (4) (2019)
Oscar Diaz-Horta, Guney Bademci, Suna Tokgoz-Yilmaz, Shengru Guo, Faraz Zafeer, Claire J Sineni, Duygu Duman, Amjad Farooq, Mustafa Tekin
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss. Clinical genetics 96 (6) (2019)
Kim C Schröder, Duygu Duman, Mustafa Tekin, Denny Schanze, Maja Sukalo, Josephina Meester, Wim Wuyts, Martin Zenker
Adams-Oliver syndrome caused by mutations of the EOGT gene. American journal of medical genetics. Part A 179 (11) (2019)
Chong Li, Guney Bademci, Asli Subasioglu, Oscar Diaz-Horta, Yi Zhu, Jiaqi Liu, Timothy Gavin Mitchell, Clemer Abad, Serhat Seyhan, Duygu Duman, Filiz Basak Cengiz, Suna Tokgoz-Yilmaz, Susan H Blanton, Amjad Farooq, Katherina Walz, R Grace Zhai, Mustafa Tekin
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss. Proceedings of the National Academy of Sciences of the United States of America 116 (4) (2019)
Oscar Diaz-Horta, Clemer Abad, Filiz Basak Cengiz, Guney Bademci, Pat Blackwelder, Katherina Walz, Mustafa Tekin
Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation. Journal of molecular medicine (Berlin, Germany) 96 (11) (2018)
Megan McSherry, Katherine E Masih, Nursel H Elcioglu, Pelin Celik, Ozge Balci, Filiz Basak Cengiz, Daniella Nunez, Claire J Sineni, Serhat Seyhan, Defne Kocaoglu, Shengru Guo, Duygu Duman, Güney Bademci, Mustafa Tekin
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability. PloS one 13 (11) (2018)
Kevin T A Booth, Kimia Kahrizi, Mojgan Babanejad, H Daghagh, Güney Bademci, S Arzhangi, D Zareabdollahi, Duygu Duman, Aziz El-Amraoui, Mustafa Tekin, Hossein Najmabadi, Hela Azaiez, Richard J H Smith
Variants in CIB2 cause DFNB48 and not USH1J. Clinical genetics 93 (4) (2018)