Alan F Scott

Alan F Scott

UNVERIFIED PROFILE

Are you Alan F Scott?   Register this Author

Register author
Alan F Scott

Alan F Scott

Publications by authors named "Alan F Scott"

Are you Alan F Scott?   Register this Author

57Publications

2453Reads

26Profile Views

Heavy Enzymes and the Rational Redesign of Protein Catalysts.

Chembiochem 2019 Apr 24. Epub 2019 Apr 24.

School of Chemistry, Cardiff University, Main Building, Park Place, Cardiff, CF10 3AT, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/cbic.201900134DOI Listing
April 2019

Detection of de novo copy number deletions from targeted sequencing of trios.

Bioinformatics 2019 Feb;35(4):571-578

Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/bioinformatics/bty677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378941PMC
February 2019

OMIM.org: leveraging knowledge across phenotype-gene relationships.

Nucleic Acids Res 2019 Jan;47(D1):D1038-D1043

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

View Article

Download full-text PDF

Source
https://academic.oup.com/nar/advance-article/doi/10.1093/nar
Publisher Site
http://dx.doi.org/10.1093/nar/gky1151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323937PMC
January 2019

Chemical Ligation and Isotope Labeling to Locate Dynamic Effects.

Methods Enzymol 2017 7;596:23-41. Epub 2017 Aug 7.

School of Chemistry, Cardiff University, Cardiff, United Kingdom. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/bs.mie.2017.06.040DOI Listing
May 2018

A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.

Birth Defects Res A Clin Mol Teratol 2015 Apr 16;103(4):276-83. Epub 2015 Mar 16.

Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.23362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415613PMC
April 2015

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

Nucleic Acids Res 2015 Jan 26;43(Database issue):D789-98. Epub 2014 Nov 26.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gku1205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383985PMC
January 2015

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

JAMA Ophthalmol 2014 Oct;132(10):1215-20

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland4Icahn School of Medicine at Mount Sinai, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaophthalmol.2014.1731DOI Listing
October 2014

Characterization of the genomic architecture and mutational spectrum of a small cell prostate carcinoma.

Genes (Basel) 2014 May 12;5(2):366-84. Epub 2014 May 12.

Department of Pediatrics, SUNY Upstate Medical Center, Golisano Children's Hospital, Syracuse, NY 13210, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes5020366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4094938PMC
May 2014

Fast detection of de novo copy number variants from SNP arrays for case-parent trios.

BMC Bioinformatics 2012 Dec 12;13:330. Epub 2012 Dec 12.

Department of Oncology, Johns Hopkins University, Baltimore, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2105-13-330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3576329PMC
December 2012

Detectable clonal mosaicism from birth to old age and its relationship to cancer.

Nat Genet 2012 May 6;44(6):642-50. Epub 2012 May 6.

Department of Biostatistics, University of Washington, Seattle, Washington, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ng.2271
Publisher Site
http://dx.doi.org/10.1038/ng.2271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366033PMC
May 2012

McKusick's Online Mendelian Inheritance in Man (OMIM).

Nucleic Acids Res 2009 Jan 8;37(Database issue):D793-6. Epub 2008 Oct 8.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gkn665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686440PMC
January 2009

Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.

Genet Med 2007 Apr;9(4):219-27

Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland 21205, USA, and Department of Medical Research and Craniofacial Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097GIM.0b013e3180423ccaDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846512PMC
April 2007

Comparing whole-genome amplification methods and sources of biological samples for single-nucleotide polymorphism genotyping.

Clin Chem 2005 Aug;51(8):1520-3

Department of Epidemiology, Bloomberg School of Public Health, McKusick-Nathans Institute of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2004.047076DOI Listing
August 2005

Family-based analysis of MSX1 haplotypes for association with oral clefts.

Genet Epidemiol 2003 Sep;25(2):168-75

Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland 21205, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/gepi.10255
Publisher Site
http://dx.doi.org/10.1002/gepi.10255DOI Listing
September 2003

Genetic and environmental risk factors for sagittal craniosynostosis.

J Craniofac Surg 2002 Sep;13(5):602-6

Johns Hopkins Bloomberg School of Hygiene and Public Health, Johns Hopkins School of Medicine, Baltimore, MD, USA.

View Article

Download full-text PDF

Source
http://joanna-zeiger.com/Research/papers/GeneticSagittal.pdf
Web Search
http://dx.doi.org/10.1097/00001665-200209000-00002DOI Listing
September 2002

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

Nucleic Acids Res 2002 Jan;30(1):52-5

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Blalock 1007, Baltimore, MD 21287-4922, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC99152PMC
http://dx.doi.org/10.1093/nar/30.1.52DOI Listing
January 2002