Publications by authors named "Guney Bademci"

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A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia.
Clin Dysmorphol 2018 Jan;27(1):9-11
aGenomic Medicine ProgrambDr John T. Macdonald Foundation Department of Human GeneticscDivision of Pediatric Hematology and Oncology, Department of PediatricsdJohn P. Hussman Institute for Human GenomicseDepartment of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida, USA.

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Int J Pediatr Otorhinolaryngol 2017 Oct 8;101:167-171. Epub 2017 Aug 8.
John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA; Department of Otorhinolaryngology, University of Miami, Miller School of Medicine, Miami, FL, USA. Electronic address:

Novel EYA1 variants causing Branchio-oto-renal syndrome.
Int J Pediatr Otorhinolaryngol 2017 Jul 26;98:59-63. Epub 2017 Apr 26.
John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address:

Novel Causative Variants in , and Associated with Intellectual Disability and Additional Phenotypic Features.
J Pediatr Genet 2017 Jun 14;6(2):77-83. Epub 2017 Feb 14.
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, United States.

Dominant deafness-onychodystrophy syndrome caused by an mutation.
Clin Case Rep 2017 Apr 8;5(4):376-379. Epub 2017 Feb 8.
John P. Hussman Institute for Human GenomicsUniversity of Miami Miller School of MedicineMiamiFloridaUSA; Department of Human GeneticsDr. John T. Macdonald FoundationUniversity of Miami Miller School of MedicineMiamiFloridaUSA.


ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Proc Natl Acad Sci U S A 2016 May 9;113(21):5993-8. Epub 2016 May 9.
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136; Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL 33136; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136


Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
Orphanet J Rare Dis 2015 Sep 30;10:128. Epub 2015 Sep 30.
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 M-860, Miami, FL, 33136, USA.

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Mol Genet Genomics 2015 Aug 30;290(4):1327-34. Epub 2015 Jan 30.
Laboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Route sidimansour Km 6, BP '1177', 3018, Sfax, Tunisia.

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.
BMC Med Genet 2015 Feb 25;16. Epub 2015 Feb 25.
John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
Proc Natl Acad Sci U S A 2014 Jul 23;111(27):9864-8. Epub 2014 Jun 23.
Dr. John T. Macdonald Foundation Department of Human Genetics,John P. Hussman Institute for Human Genomics, andDivision of Pediatric Genetics, Ankara University School of Medicine, Ankara 06100, Turkey

Evidence for genotype-phenotype correlation for OTOF mutations.
Int J Pediatr Otorhinolaryngol 2014 Jun 28;78(6):950-3. Epub 2014 Mar 28.
Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, United States; Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey. Electronic address:

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.
Ann Hum Genet 2013 Sep 12;77(5):351-63. Epub 2013 Jul 12.
University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10th Ave, Miami, FL, 33136, USA.


Comparison of three targeted enrichment strategies on the SOLiD sequencing platform.
PLoS One 2011 Apr 29;6(4):e18595. Epub 2011 Apr 29.
John T. MacDonald Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach.
PLoS One 2011 Feb 22;6(2):e16917. Epub 2011 Feb 22.
John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.



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