Publications by authors named "Atteeq U Rehman"

19Publications

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder.

Eur J Hum Genet 2020 05 5;28(5):674-678. Epub 2019 Dec 5.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/s41431-019-0552-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171094PMC
May 2020

Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness.

Cell 2018 07 28;174(3):536-548.e21. Epub 2018 Jun 28.

Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Inflammation Program, 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; Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370011PMC
July 2018

Genetic causes of moderate to severe hearing loss point to modifiers.

Clin Genet 2017 Apr 6;91(4):589-598. Epub 2016 Oct 6.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, USA 20892.

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http://dx.doi.org/10.1111/cge.12856DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5365349PMC
April 2017

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Hum Mutat 2016 10 21;37(10):991-1003. Epub 2016 Aug 21.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892.

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http://dx.doi.org/10.1002/humu.23042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021573PMC
October 2016

Recessive mutations of TMC1 associated with moderate to severe hearing loss.

Neurogenetics 2016 Apr 16;17(2):115-123. Epub 2016 Feb 16.

School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore 54590, Pakistan.

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http://dx.doi.org/10.1007/s10048-016-0477-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795972PMC
April 2016

Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

Invest Ophthalmol Vis Sci 2014 Nov 25;56(1):107-14. Epub 2014 Nov 25.

National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.14-15355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4288141PMC
November 2014