Publications by authors named "Bryn D Webb"

29Publications

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.

Immunity 2020 Sep 3;53(3):672-684.e11. Epub 2020 Aug 3.

Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.immuni.2020.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398039PMC
September 2020

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.

Brain Commun 2020 14;2(1):fcaa014. Epub 2020 Feb 14.

Quantitative Medical Imaging Section, National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/braincomms/fcaa014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158234PMC
February 2020

Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement".

J Neurol Sci 2019 Nov 3;406:116448. Epub 2019 Sep 3.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.

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http://dx.doi.org/10.1016/j.jns.2019.116448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373422PMC
November 2019

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

Eur J Hum Genet 2020 01 15;28(1):64-75. Epub 2019 Mar 15.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41431-019-0374-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906407PMC
January 2020

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

Hum Mutat 2017 04 2;38(4):373-377. Epub 2017 Feb 2.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1002/humu.23171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390682PMC
April 2017

Genetic Advances in Craniofacial Malformations.

J Pediatr Genet 2016 Dec 14;5(4):183. Epub 2016 Sep 14.

Departments of Surgery, Pediatrics, Dentistry, Neurosurgery, and Medical Education, Icahn School of Medicine at Mount Sinai, New York, New York, United States.

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http://dx.doi.org/10.1055/s-0036-1592349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123889PMC
December 2016

Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.

Appl Clin Genet 2016 31;9:141-6. Epub 2016 Aug 31.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.2147/TACG.S113828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5012844PMC
September 2016

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.

J Med Genet 2016 06 20;53(6):389-96. Epub 2016 Jan 20.

The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068917PMC
http://dx.doi.org/10.1136/jmedgenet-2015-103457DOI Listing
June 2016

Evaluation of the Affymetrix CytoScan(®) Dx Assay for developmental delay.

Expert Rev Mol Diagn 2015 Feb 28;15(2):185-92. Epub 2014 Oct 28.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.

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http://dx.doi.org/10.1586/14737159.2015.975213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415685PMC
February 2015

Mirror movements identified in patients with moebius syndrome.

Tremor Other Hyperkinet Mov (N Y) 2014 22;4:256. Epub 2014 Jul 22.

Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.7916/D83F4MR8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107286PMC
August 2014