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Author Details

Alan F Scott
Johns Hopkins University School of Medicine
1972
105
43
PMIDPaper TitleJournal TitlePublished Year
36749728Divergent sensory and immune gene evolution in sea turtles with contrasting demographic and life histories.Proc Natl Acad Sci U S A2023
35946988Benchmarking ultra-high molecular weight DNA preservation methods for long-read and long-range sequencing.Gigascience2022
35886053A Chromosome-Length Assembly of the Hawaiian Monk Seal (<i>Neomonachus schauinslandi</i>): A History of "Genetic Purging" and Genomic Stability.Genes (Basel)2022
34169650Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.Am J Med Genet A2021
33514656A novel <i>canis lupus familiaris</i> reference genome improves variant resolution for use in breed-specific GWAS.Life Sci Alliance2021
34478655Response to Biesecker et al.Am J Hum Genet2021
33937227Detecting Gene-Environment Interaction for Maternal Exposures Using Case-Parent Trios Ascertained Through a Case With Non-Syndromic Orofacial Cleft.Front Cell Dev Biol2021
34214258The genes of OMIM: A legacy of Victor McKusick.Am J Med Genet A2021
34146095Draft de novo Genome Assembly of the Elusive Jaguarundi, Puma yagouaroundi.J Hered2021
30445645OMIM.org: leveraging knowledge across phenotype-gene relationships.Nucleic Acids Res2019
30246882Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants.Genet Epidemiol2019
30084993Detection of de novo copy number deletions from targeted sequencing of trios.Bioinformatics2019
30071989Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.J Am Coll Cardiol2018
27910131Whole exome association of rare deletions in multiplex oral cleft families.Genet Epidemiol2017
28944239Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.Mol Genet Genomic Med2017
28552198Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.Am J Hum Genet2017
27058444Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis.Am J Hum Genet2016
27725671A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome.Nat Commun2016
27124788A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.Genet Med2016
25428349OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.Nucleic Acids Res2015
26278207Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population.Birth Defects Res A Clin Mol Teratol2015
26542228A multi-omic analysis of human naïve CD4+ T cells.BMC Syst Biol2015
26166479The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.Am J Hum Genet2015
25704602Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.Am J Hum Genet2015
25776870A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.Birth Defects Res A Clin Mol Teratol2015
24528994A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk.BMC Genet2014
25303326Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium.PLoS One2014
24993872Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.JAMA Ophthalmol2014
24823478Characterization of the genomic architecture and mutational spectrum of a small cell prostate carcinoma.Genes (Basel)2014
24793288Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.Genetics2014
24516586Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate.PLoS One2014
24595103Mutations in Alström protein impair terminal differentiation of cardiomyocytes.Nat Commun2014
22074045The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.Cleft Palate Craniofac J2013
23512105Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.Hum Genet2013
23489894X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts.Eur J Oral Sci2013
22986903Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD.Hum Genet2013
22419666Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.Am J Med Genet A2012
23234608Fast detection of de novo copy number variants from SNP arrays for case-parent trios.BMC Bioinformatics2012
23023332Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.Nat Genet2012
22863734Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.Nat Genet2012
22508319Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans.Genet Epidemiol2012
22514733BMP4 was associated with NSCL/P in an Asian population.PLoS One2012
22490406ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population.Chin Med J (Engl)2012
22561516Detectable clonal mosaicism from birth to old age and its relationship to cancer.Nat Genet2012
22241686Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate.Birth Defects Res A Clin Mol Teratol2012
21478196Performance assessment of copy number microarray platforms using a spike-in experiment.Bioinformatics2011
21618603Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.Genet Epidemiol2011
20087401Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.Eur J Hum Genet2010
20652317Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.Hum Genet2010
19910028A genome-wide association study on African-ancestry populations for asthma.J Allergy Clin Immunol2010
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Collaborators

Ingo Ruczinski
Co-authored papers 27
Margaret Daniele Fallin
Co-authored papers 19
Roxann G Ingersoll
Mc-Kusick-Nathans Institute of Genetic Medicine, Johns Hopkins
Co-authored papers 18
Mary L Marazita
Center for Craniofacial and Dental Genetics, University of Pittsburgh
Co-authored papers 18
Margaret M Parker
Co-authored papers 11
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 9
Joanna S Amberger
Johns Hopkins University School of Medicine
Co-authored papers 9
Margaret A Taub
Co-authored papers 9
Kimberly F Doheny
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Co-authored papers 9
David W Mohr
Johns Hopkins University School of Medicine
Co-authored papers 8
Kathleen C Barnes
Co-authored papers 7
Carol A Bocchini
Johns Hopkins University School of Medicine
Co-authored papers 7
John A Phillips
Vanderbilt University Medical Center
Co-authored papers 7
David Valle
Johns Hopkins School of Medicine
Co-authored papers 5
Kurt N Hetrick
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Co-authored papers 5
Hua Ling
Chongqing Center for Disease Control and Prevention.
Co-authored papers 5
Kerstin U Ludwig
Institute of Human Genetics, University of Bonn
Co-authored papers 4
Stylianos E Antonarakis
Co-authored papers 4
Harry C Dietz
The Johns Hopkins University
Co-authored papers 3
Laura M Kasch
Johns Hopkins School of Medicine
Co-authored papers 3
Corinne Boehm
Johns Hopkins University School of Medicine
Co-authored papers 3
Nara Sobreira
Johns Hopkins University
Co-authored papers 3
Nicholas Rafaels
Co-authored papers 3
Markus M N??then
Institute of Human Genetics, University Hospital Bonn
Co-authored papers 3
Harold Watson
Co-authored papers 2
Jef D Boeke
Institute for Systems Genetics, NYU School of Medicine
Co-authored papers 2
Philip D Witmer
Johns Hopkins Genomics, Johns Hopkins University
Co-authored papers 2
Natasha T Strande
USA Autism and Developmental Medicine Institute
Co-authored papers 2
Jonathan S Berg
University of North Carolina
Co-authored papers 2
Erin M Ramos
National Human Genome Research Institute
Co-authored papers 2
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