Joseph Foster

Joseph Foster

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Joseph Foster

Joseph Foster

Publications by authors named "Joseph Foster"

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43Publications

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The impact of workload on the ability to localize audible alarms.

Appl Ergon 2018 Oct 18;72:88-93. Epub 2018 May 18.

Cognition Institute, Plymouth University, Plymouth, Devon PL4 8AA, UK.

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October 2018

KBG syndrome.

Orphanet J Rare Dis 2017 12 19;12(1):183. Epub 2017 Dec 19.

Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue, BRB-336 (M-860), Miami, FL, 33136, USA.

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December 2017

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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October 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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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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June 2017

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.

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April 2017

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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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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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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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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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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August 2015

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Hum Genet 2015 Feb 21;134(2):181-90. Epub 2014 Nov 21.

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 10 Ave, BRB 610, M-860, Miami, FL, 33136, USA,

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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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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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September 2014

An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.

PLoS One 2013 6;8(12):e82810. Epub 2013 Dec 6.

Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.

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July 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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July 2014

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

Hum Genet 2014 Jun 13;133(6):737-42. Epub 2013 Dec 13.

Dr. John T. Macdonald 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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June 2014

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.

Eur J Pediatr 2014 Jun 16;173(6):827-30. Epub 2014 Apr 16.

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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June 2014

LipidHome: a database of theoretical lipids optimized for high throughput mass spectrometry lipidomics.

PLoS One 2013 7;8(5):e61951. Epub 2013 May 7.

EMBL Outstation, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom.

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December 2013

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

PLoS One 2012 30;7(11):e50628. Epub 2012 Nov 30.

John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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May 2013

From Peptidome to PRIDE: public proteomics data migration at a large scale.

Proteomics 2013 May 20;13(10-11):1692-5. Epub 2013 Apr 20.

EMBL Outstation, European Bioinformatics Institute (EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

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May 2013

PRIDE: quality control in a proteomics data repository.

Database (Oxford) 2012 20;2012:bas004. Epub 2012 Mar 20.

EMBL Outstation, European Bioinformatics Institute (EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.

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June 2012

Chromatographic retention time prediction for posttranslationally modified peptides.

Proteomics 2012 Apr;12(8):1151-9

Science for Life Laboratory, Department of Biochemistry and Biophysics, Stockholm University, Solna, Sweden.

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April 2012

Bioinformatics challenges in the proteomic analysis of human plasma.

Methods Mol Biol 2011 ;728:333-47

EMBL Outstation, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

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July 2011

A posteriori quality control for the curation and reuse of public proteomics data.

Proteomics 2011 Jun 2;11(11):2182-94. Epub 2011 May 2.

EMBL Outstation, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

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June 2011

Proteomics data repositories: providing a safe haven for your data and acting as a springboard for further research.

J Proteomics 2010 Oct 6;73(11):2136-46. Epub 2010 Jul 6.

EMBL Outstation, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

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October 2010

The Proteomics Identifications database: 2010 update.

Nucleic Acids Res 2010 Jan 11;38(Database issue):D736-42. Epub 2009 Nov 11.

EMBL Outstation, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

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January 2010

A guide to the Proteomics Identifications Database proteomics data repository.

Proteomics 2009 Sep;9(18):4276-83

EMBL Outstation, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

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September 2009

Emergency Use Authority and 2009 H1N1 influenza.

Biosecur Bioterror 2009 Sep;7(3):245-50

Office of the General Counsel, U.S. Department of Health and Human Services, Washington, DC 20201, USA.

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September 2009

Dihydronepetalactones deter feeding activity by mosquitoes, stable flies, and deer ticks.

J Med Entomol 2009 Jul;46(4):832-40

Central Research & Development, E. I. DuPont de Nemours and Company, Wilmington, DE 19880-0328, USA.

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July 2009

HHS/CDC legal response to SARS outbreak.

Emerg Infect Dis 2004 Feb;10(2):353-5

Office of the General Counsel, US Department of Health and Human Services, Public Health Division, ATSDR Branch, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA.

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February 2004