MustafaTekinMD

PubMed

• Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
  Maike F Dohrn, Adriana P Rebelo, Médéric Jeanne, Nicholas A Borja, Danique Beijer, Matt C Danzi, Stephanie A Bivona, Paul Gueguen, Mohammad F Zafeer, , Stephan Züchner...> ;Annals of Clinical and Translational Neurology. 2024 Apr 1
• SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
  Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Ke...> ;Nature Communications. 2024 Feb 27
• Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.
  Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut ...> ;European Journal of Human Genetics. 2024 Feb 19
• Triple Primary Cancers: An Analysis of Genetic and Environmental Factors.
  Borja, N., Silva-Smith, R., Sussman, D., Calfa, C., Tekin, M.> ;Cancer Prevention Research. 2024 Feb 16
• Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.
  Duman, D., Ramzan, M., Subasioglu, A., Mutlu, A., Peart, L., Seyhan, S., Guo, S., Ila, K., Balta, B., Kalcioglu, M., Bademci, G., Tekin, M.> ;American Journal of Medical Genetics. Part A. 2024 Feb 14
• EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
  Lang, S., Rodier, M., Bivona, S., , Morales, A., Zuchner, S., Forghani, I., Bademci, G., Tekin, M.> ;American Journal of Medical Genetics. Part A. 2024 Feb 13
• ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
  Vladimir Camarena, Monique M Williams, Alejo A Morales, Mohammad F Zafeer, Okan V Kilic, Ali Kamiar, Clemer Abad, Monica A Rasmussen, Laurence M Briski, LéShon Peart, ...> ;JCI Insight. 2024 Feb 1
• 1 citations
  RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.
  Sarah Fazal, Matt C Danzi, Isaac Xu, Shilpa Nadimpalli Kobren, Shamil Sunyaev, Chloe Reuter, Shruti Marwaha, Matthew Wheeler, Egor Dolzhenko, Francesca Lucas, Stefan W...> ;Genome Biology. 2024 Jan 31
• 2 citations
  Dispersed DNA variants underlie hearing loss in South Florida's minority population.
  LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turcin Saridogan, Memoona Ramzan, Mohammad Faraz Zafeer, Xue Zhong Liu, Adrien A Eshraghi, Michael E Hof...> ;Human Genomics. 2023 Nov 24
• Two novel heterozygous exonic deletions lead to Chanarin-Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction.
  Sofia Zoullas, Dayna Morel, Faraz Zafeer, Paulo Borjas-Mendoza, Simon Angeli, Yi Zhou, Guney Bademci, Mustafa Tekin> ;American Journal of Medical Genetics. Part A. 2024 Apr 1
• 1 citations
  Novel GPR156 variants confirm its role in moderate sensorineural hearing loss.
  Memoona Ramzan, Nazim Bozan, Serhat Seyhan, Mohammad Faraz Zafeer, Aburrahman Ayral, Duygu Duman, Guney Bademci, Mustafa Tekin> ;Scientific Reports. 2023 Oct 9
• 1 citations
  Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
  Memoona Ramzan, Duygu Duman, LeShon Chere Peart Hendricks, Shengru Guo, Ahmet Mutlu, Mahmut Tayyar Kalcioglu, Serhat Seyhan, Claudia Carranza, Murtaza Bonyadi, Nejat M...> ;Journal of Human Genetics. 2023 Oct 1
• H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
  Nicholas Borja, Paulo Borjas-Mendoza, Stephanie Bivona, LéShon Peart, Joanna Gonzalez, Brittney Keira Johnson, Shengru Guo, Roman Yusupov, , Guney Bademci, Mustafa Tekin> ;American Journal of Medical Genetics. Part A. 2023 Jul 1
• 2 citations
  BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
  Trine Tangeraas, Juliana R Constante, Paul Hoff Backe, Alfonso Oyarzábal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, François G Debray, Burcu Ozturk-Hism, Gu...> ;Brain. 2023 Jul 3
• 1 citations
  Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
  Nicholas Borja, Mohammad Faraz Zafeer, Jeimy Alfonso Rodriguez, Dayna Morel Swols, Willa Thorson, Guney Bademci, Mustafa Tekin> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 1 citations
  Atypical: Broadening the phenotypic spectrum of-associated hereditary cancer.
  Nicholas A Borja, Rachel Silva-Smith, Marilyn Huang, Dipen J Parekh, Daniel Sussman, Mustafa Tekin> ;Frontiers in Oncology. 2023 Jan 1
• 1 citations
  Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review.
  Steven H Lang, Francesca Camponeschi, Evan de Joya, Paulo Borjas-Mendoza, Mustafa Tekin, Willa Thorson> ;Genes. 2022 Nov 6
• 1 citations
  Diagnostic yield of next generation sequencing gene panel assays for early-onset glaucoma in an ethnically diverse population.
  Maria Fernanda Villalba, Alana L Grajewski, Mustafa Tekin, Guney Bademci, Ta C Chang> ;Journal of AAPOS. 2022 Dec 1
• 2 citations
  Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
  Sarah Fazal, Matt C Danzi, André B P van Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender, René Leen, Camilo Toro, Karen Usdin, Bruce Hayward, David R Adam...> ;Human Molecular Genetics. 2023 Jan 1
• 3 citations
  Mutations inencoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.
  Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J Ingham, Jing Chen, Claire J Sineni, Nirmal Vadg...> ;Proceedings of the National Academy of Sciences of the United States of America. 2022 Jun 28
• 3 citations
  Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.
  Lé Shon Peart, Joanna Gonzalez, Stephanie Bivona, Kumarie Latchman, Leonardo Torres, , Mustafa Tekin> ;American Journal of Medical Genetics. Part A. 2022 Apr 1
• 4 citations
  Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
  Nicholas Borja, Stephanie Bivona, Lé Shon Peart, Brittany Johnson, Joanna Gonzalez, Deborah Barbouth, Henry Moore, Shengru Guo, , Guney Bademci, Mustafa Tekin, Agrawal...> ;Molecular Genetics & Genomic Medicine. 2022 Apr 1
• 1 citations
  mutations associated with neurodevelopmental disorder are located on a short amino acid stretch of the anticodon-binding domain.
  Semra Hiz, Seval Kiliç, Güney Bademci, Tülay Karakulak, Aybike Erdoğan, Burcu Özden, Çiğdem Eresen, Esra Erdal, Uluç Yiş, Mustafa Tekin, Gökhan Karakülah, Ezgi Karaca,...> ;Turkish Journal of Biology = Turk Biyoloji Dergisi. 2022 Jan 1
• Ultrasonographic measurement of the dimensions of proximal and distal patellar fragments after Niebauer-King Procedure for the management of congenital dislocation of ...
  Ömer Sunkar Biçer, Mustafa Tekin, Ömer Faruk Eren, Akif Mirioğlu, Mehmet Ali Deveci, Süreyya Soyupak> ;Acta Orthopaedica Et Traumatologica Turcica. 2021 Aug 1
• 6 citations
  One is the loneliest number: genotypic matchmaking using the electronic health record.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Genetics in Medicine. 2021 Jul 6
• Join now to see all