Publications by authors named "Hela Azaiez"

46Publications

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.

Hum Genet 2020 Dec 19;139(12):1565-1574. Epub 2020 Jun 19.

Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

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http://dx.doi.org/10.1007/s00439-020-02197-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7572817PMC
December 2020

() c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

Int J Mol Sci 2020 May 31;21(11). Epub 2020 May 31.

Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.3390/ijms21113951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312536PMC
May 2020

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Am J Hum Genet 2018 10 20;103(4):484-497. Epub 2018 Sep 20.

Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; The Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Medical Scientist Training Program, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Iowa Institute of Human Genetics, University of Iowa, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174355PMC
October 2018

Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective.

Front Genet 2018 8;9:156. Epub 2018 May 8.

Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, United States.

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http://dx.doi.org/10.3389/fgene.2018.00156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5951964PMC
May 2018

Old gene, new phenotype: splice-altering variants in cause recessive non-syndromic hearing impairment.

J Med Genet 2018 08 27;55(8):555-560. Epub 2018 Apr 27.

Molecular Otolaryngology Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa, USA.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105349
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http://dx.doi.org/10.1136/jmedgenet-2018-105349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060001PMC
August 2018

Exonic mutations and exon skipping: Lessons learned from DFNA5.

Hum Mutat 2018 03 11;39(3):433-440. Epub 2018 Jan 11.

Department of Otolaryngology-Head Neck Surgery, Molecular Otolaryngology Renal Research Laboratories, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1002/humu.23384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805621PMC
March 2018

Advances in Molecular Genetics and the Molecular Biology of Deafness.

Biomed Res Int 2016 20;2016:5629093. Epub 2016 Jul 20.

Department of Otolaryngology, University of Iowa, Iowa City, IA 52246, USA.

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http://dx.doi.org/10.1155/2016/5629093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971315PMC
February 2017

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Hum Genet 2016 Apr 11;135(4):441-450. Epub 2016 Mar 11.

Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA, 52242, USA.

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http://dx.doi.org/10.1007/s00439-016-1648-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4796320PMC
April 2016

Audioprofile Surfaces: The 21st Century Audiogram.

Ann Otol Rhinol Laryngol 2016 May 3;125(5):361-8. Epub 2015 Nov 3.

Department of Electrical and Computer Engineering, University of Iowa, Iowa City, Iowa, USA Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, Iowa, USA Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1177/0003489415614863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821702PMC
May 2016

Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity.

Ann Hum Genet 2015 Nov 29;79(6):402-17. Epub 2015 Sep 29.

Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, Tunis, Le Belvédère, Tunisia.

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http://dx.doi.org/10.1111/ahg.12131DOI Listing
November 2015

PDZD7 and hearing loss: More than just a modifier.

Am J Med Genet A 2015 Dec 29;167A(12):2957-65. Epub 2015 Sep 29.

Department of Otolaryngology-Head Neck Surgery, Molecular Otolaryngology Renal Research Laboratories, University of Iowa, Iowa City, Iowa.

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http://doi.wiley.com/10.1002/ajmg.a.37274
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http://dx.doi.org/10.1002/ajmg.a.37274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741280PMC
December 2015

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.

J Am Soc Nephrol 2016 Apr 17;27(4):1245-53. Epub 2015 Aug 17.

Molecular Otolaryngology and Renal Research Laboratories, Iowa Institute of Human Genetics, Division of Nephrology, Department of Internal Medicine and Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, Iowa

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http://dx.doi.org/10.1681/ASN.2015040385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4814193PMC
April 2016

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

PLoS Genet 2015 Mar 27;11(3):e1005137. Epub 2015 Mar 27.

Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology University of Iowa, Iowa City, Iowa, United States of America; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4376867PMC
March 2015

Mutations in LOXHD1 gene cause various types and severities of hearing loss.

Ann Otol Rhinol Laryngol 2015 May 19;124 Suppl 1:135S-41S. Epub 2015 Mar 19.

Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan

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http://dx.doi.org/10.1177/0003489415574067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441841PMC
May 2015

De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.

Ann Otol Rhinol Laryngol 2015 May 19;124 Suppl 1:169S-76S. Epub 2015 Mar 19.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan

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http://dx.doi.org/10.1177/0003489415575042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441833PMC
May 2015

Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.

Ann Otol Rhinol Laryngol 2015 May 18;124 Suppl 1:184S-92S. Epub 2015 Mar 18.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan

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http://journals.sagepub.com/doi/10.1177/0003489415575041
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http://dx.doi.org/10.1177/0003489415575041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441868PMC
May 2015

Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation.

Ann Otol Rhinol Laryngol 2015 May 18;124 Suppl 1:177S-83S. Epub 2015 Mar 18.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan

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http://dx.doi.org/10.1177/0003489415575045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441871PMC
May 2015

USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.

Ann Otol Rhinol Laryngol 2015 May 5;124 Suppl 1:123S-8S. Epub 2015 Mar 5.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan

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http://dx.doi.org/10.1177/0003489415574070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441826PMC
May 2015

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Am J Hum Genet 2014 Oct 25;95(4):445-53. Epub 2014 Sep 25.

Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA 52242, USA; Department of Molecular Physiology & Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185121PMC
October 2014

Cordova: web-based management of genetic variation data.

Bioinformatics 2014 Dec 14;30(23):3438-9. Epub 2014 Aug 14.

Department of Biomedical Engineering, Department of Ophthalmology and Visual Sciences, Department of Electrical and Computer Engineering, Department of Otolaryngology-Head & Neck Surgery, Carver College of Medicine, Department of Molecular Physiology & Biophysics, Carver College of Medicine, Interdisciplinary Graduate Program in Genetics and Iowa Institute for Human Genetics, Carver College of Medicine, The University of Iowa, Iowa City, IA 52242, USA.

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http://bioinformatics.oxfordjournals.org/content/early/2014/
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http://bioinformatics.oxfordjournals.org/cgi/doi/10.1093/bio
Publisher Site
http://dx.doi.org/10.1093/bioinformatics/btu539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296146PMC
December 2014

Copy number variants are a common cause of non-syndromic hearing loss.

Genome Med 2014 22;6(5):37. Epub 2014 May 22.

Department of Otolaryngology - Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA ; Iowa Institute of Human Genetics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA ; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1186/gm554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067994PMC
June 2014

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

Hum Mutat 2014 Jul 6;35(7):819-23. Epub 2014 May 6.

Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa.

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http://doi.wiley.com/10.1002/humu.22557
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http://dx.doi.org/10.1002/humu.22557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267685PMC
July 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Orphanet J Rare Dis 2012 Aug 21;7:52. Epub 2012 Aug 21.

Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia.

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http://dx.doi.org/10.1186/1750-1172-7-52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495028PMC
August 2012

Adult Gaucher disease in southern Tunisia: report of three cases.

Diagn Pathol 2012 Jan 10;7. Epub 2012 Jan 10.

Molecular Investigation of Genetic Orphan Diseases, Pasteur Institute, Tunis - Tunisia.

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http://dx.doi.org/10.1186/1746-1596-7-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3275535PMC
January 2012

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

J Genet 2011 Dec;90(3):483-7

Molecular Investigation of Genetic Orphan Diseases Research Unit, Pasteur Institute of Tunis, 13 Place Pasteur, BP 74, 1002 Tunis Belvedere, Tunisia.

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http://link.springer.com/content/pdf/10.1007/s12041-011-0101
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http://dx.doi.org/10.1007/s12041-011-0101-yDOI Listing
December 2011

Genotype-phenotype correlations for SLC26A4-related deafness.

Hum Genet 2007 Dec 10;122(5):451-7. Epub 2007 Aug 10.

Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Dr, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1007/s00439-007-0415-2DOI Listing
December 2007

In reference to temporal bone imaging in GJB2 deafness.

Laryngoscope 2007 Jun;117(6):1127; author reply 1127-9

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http://dx.doi.org/10.1097/MLG.0b013e3180421729DOI Listing
June 2007

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Hum Mutat 2004 Oct;24(4):305-11

Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1002/humu.20084DOI Listing
October 2004