The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience.
Saved in:
| Title: | The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience. |
|---|---|
| Authors: | Molina-Ramírez LP; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Burkitt-Wright EM; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Saeed H; Paediatric ENT Department, Manchester Academic Health Science Centre, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., McDermott JH; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Kyle C; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Wright R; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Campbell C; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Bhaskar SS; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Taylor A; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Dutton L; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Forde C; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Metcalfe K; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Smith A; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Clayton-Smith J; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Douzgou S; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Chandler K; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Briggs TA; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Banka S; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Newman WG; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Gokhale D; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Bruce IA; Paediatric ENT Department, Manchester Academic Health Science Centre, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.; Division of Infection, Immunity and Respiratory Medicine, Faculty of Biology, Medicine, Health University of Manchester, Manchester, UK., Black GC; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. |
| Source: | Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery [Clin Otolaryngol] 2021 Nov; Vol. 46 (6), pp. 1257-1262. Date of Electronic Publication: 2021 Jul 05. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101247023 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1749-4486 (Electronic) Linking ISSN: 17494478 NLM ISO Abbreviation: Clin Otolaryngol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| FullText | Links: – Type: pdflink Text: Availability: 1 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 34171171 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Molina-Ramírez+LP%22">Molina-Ramírez LP</searchLink>; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Burkitt-Wright+EM%22">Burkitt-Wright EM</searchLink>; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Saeed+H%22">Saeed H</searchLink>; Paediatric ENT Department, Manchester Academic Health Science Centre, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22McDermott+JH%22">McDermott JH</searchLink>; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Kyle+C%22">Kyle C</searchLink>; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Wright+R%22">Wright R</searchLink>; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Campbell+C%22">Campbell C</searchLink>; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Bhaskar+SS%22">Bhaskar SS</searchLink>; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Taylor+A%22">Taylor A</searchLink>; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Dutton+L%22">Dutton L</searchLink>; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Forde+C%22">Forde C</searchLink>; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Metcalfe+K%22">Metcalfe K</searchLink>; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Smith+A%22">Smith A</searchLink>; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Clayton-Smith+J%22">Clayton-Smith J</searchLink>; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Douzgou+S%22">Douzgou S</searchLink>; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Chandler+K%22">Chandler K</searchLink>; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Briggs+TA%22">Briggs TA</searchLink>; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Banka+S%22">Banka S</searchLink>; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Newman+WG%22">Newman WG</searchLink>; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Gokhale+D%22">Gokhale D</searchLink>; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Bruce+IA%22">Bruce IA</searchLink>; Paediatric ENT Department, Manchester Academic Health Science Centre, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.; Division of Infection, Immunity and Respiratory Medicine, Faculty of Biology, Medicine, Health University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Black+GC%22">Black GC</searchLink>; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101247023%22">Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery</searchLink> [Clin Otolaryngol] 2021 Nov; Vol. 46 (6), pp. 1257-1262. <i>Date of Electronic Publication: </i>2021 Jul 05. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Blackwell+Scientific+Publications%22">Blackwell Scientific Publications </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101247023 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1749-4486 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217494478%22">17494478 </searchLink><i>NLM ISO Abbreviation: </i>Clin Otolaryngol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34171171 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/coa.13826 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1257 Titles: – TitleFull: The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Molina-Ramírez LP – PersonEntity: Name: NameFull: Burkitt-Wright EM – PersonEntity: Name: NameFull: Saeed H – PersonEntity: Name: NameFull: McDermott JH – PersonEntity: Name: NameFull: Kyle C – PersonEntity: Name: NameFull: Wright R – PersonEntity: Name: NameFull: Campbell C – PersonEntity: Name: NameFull: Bhaskar SS – PersonEntity: Name: NameFull: Taylor A – PersonEntity: Name: NameFull: Dutton L – PersonEntity: Name: NameFull: Forde C – PersonEntity: Name: NameFull: Metcalfe K – PersonEntity: Name: NameFull: Smith A – PersonEntity: Name: NameFull: Clayton-Smith J – PersonEntity: Name: NameFull: Douzgou S – PersonEntity: Name: NameFull: Chandler K – PersonEntity: Name: NameFull: Briggs TA – PersonEntity: Name: NameFull: Banka S – PersonEntity: Name: NameFull: Newman WG – PersonEntity: Name: NameFull: Gokhale D – PersonEntity: Name: NameFull: Bruce IA – PersonEntity: Name: NameFull: Black GC IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 11 Text: 2021 Nov Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1749-4486 Numbering: – Type: volume Value: 46 – Type: issue Value: 6 Titles: – TitleFull: Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery Type: main |
| ResultId | 1 |