Guney Bademci

Guney Bademci

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Guney Bademci

Publications by authors named "Guney Bademci"

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Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation.

J Mol Med (Berl) 2018 Nov 3;96(11):1227-1238. Epub 2018 Oct 3.

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, FL, 33136, USA.

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http://link.springer.com/10.1007/s00109-018-1694-x
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http://dx.doi.org/10.1007/s00109-018-1694-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238639PMC
November 2018

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.

Mol Cytogenet 2018 1;11:43. Epub 2018 Aug 1.

1Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, 1601 NW 12th Avenue, Miami, FL 33136 USA.

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http://dx.doi.org/10.1186/s13039-018-0390-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090943PMC
August 2018

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.

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http://dx.doi.org/10.1097/MCD.0000000000000200DOI Listing
January 2018

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:

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http://dx.doi.org/10.1016/j.ijporl.2017.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5679420PMC
October 2017

Research of genetic bases of hereditary non-syndromic hearing loss.

Turk Pediatri Ars 2017 Sep 1;52(3):122-132. Epub 2017 Sep 1.

Department of Medical Genetics, Erciyes University Faculty of Medicine, Kayseri, Turkey.

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http://dx.doi.org/10.5152/TurkPediatriArs.2017.4254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644578PMC
September 2017

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:

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http://dx.doi.org/10.1016/j.ijporl.2017.04.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516569PMC
July 2017

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.

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http://dx.doi.org/10.1055/s-0037-1598639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423827PMC
June 2017

Dominant deafness-onychodystrophy syndrome caused by an mutation.

Clin Case Rep 2017 04 8;5(4):376-379. Epub 2017 Feb 8.

John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA; Department of Human Genetics Dr. John T. Macdonald Foundation University of Miami Miller School of Medicine Miami Florida USA.

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http://dx.doi.org/10.1002/ccr3.761DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378843PMC
April 2017

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

PLoS One 2015 11;10(11):e0142154. Epub 2015 Nov 11.

Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0142154PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641619PMC
June 2016

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

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http://dx.doi.org/10.1073/pnas.1522512113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889368PMC
May 2016

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.

Hear Res 2016 Mar 2;333:179-184. Epub 2016 Feb 2.

Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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http://dx.doi.org/10.1016/j.heares.2016.01.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4798889PMC
March 2016

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.

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http://dx.doi.org/10.1186/s13023-015-0345-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4589207PMC
September 2015

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.

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http://dx.doi.org/10.1007/s00438-015-0995-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707654PMC
August 2015

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation.

J Pediatr 2015 Aug 23;167(2):489-91. Epub 2015 May 23.

Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.04.069DOI Listing
August 2015

Whole-exome sequencing and its impact in hereditary hearing loss.

Genet Res (Camb) 2015 Mar 31;97:e4. Epub 2015 Mar 31.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics,Miller School of Medicine,University of Miami,USA.

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http://dx.doi.org/10.1017/S001667231500004XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503681PMC
March 2015

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.

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http://dx.doi.org/10.1186/s12881-015-0149-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422282PMC
February 2015

Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria.

Int J Pediatr Otorhinolaryngol 2014 Nov 23;78(11):1870-3. Epub 2014 Aug 23.

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, FL 33136, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2014.08.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208623PMC
November 2014

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Genet Test Mol Biomarkers 2014 Sep 25;18(9):658-61. Epub 2014 Jul 25.

1 John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami , Miami, Florida.

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http://dx.doi.org/10.1089/gtmb.2014.0121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150376PMC
September 2014

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

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http://dx.doi.org/10.1073/pnas.1401950111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103326PMC
July 2014

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:

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http://dx.doi.org/10.1016/j.ijporl.2014.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066206PMC
June 2014

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.

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http://dx.doi.org/10.1111/ahg.12033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3815478PMC
September 2013

High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2.

Hum Mutat 2013 Aug 28;34(8):1071-4. Epub 2013 May 28.

John P Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.

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http://dx.doi.org/10.1002/humu.22344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464794PMC
August 2013

Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease.

CNS Neurol Disord Drug Targets 2012 Jun;11(4):469-81

University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, FL 33136, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973181PMC
June 2012

Conventional and molecular cytogenetic analyses in Turkish patients with multiple myeloma.

Turk J Haematol 2012 Jun 15;29(2):135-42. Epub 2012 Jun 15.

Eskisehir Osmangazi University, Medical Faculty, Department of Hematology, Eskisehir, Turkey.

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http://dx.doi.org/10.5152/tjh.2011.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986951PMC
June 2012

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.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0018595PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084696PMC
April 2011

A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease.

Hum Mutat 2010 Oct;31(10):E1767-71

University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA.

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http://dx.doi.org/10.1002/humu.21351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025121PMC
October 2010