James C Mullikin

James C Mullikin

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James C Mullikin

Publications by authors named "James C Mullikin"

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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Ophthalmology 2018 Dec 25;125(12):1937-1952. Epub 2018 Jul 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1016/j.ophtha.2018.05.026DOI Listing
December 2018

The Draft Genome Assembly of Dermatophagoides pteronyssinus Supports Identification of Novel Allergen Isoforms in Dermatophagoides Species.

Int Arch Allergy Immunol 2018 11;175(3):136-146. Epub 2018 Jan 11.

Intramural Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.

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https://www.karger.com/Article/FullText/481989
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http://dx.doi.org/10.1159/000481989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5847439PMC
May 2018

The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas.

Cancer 2018 01 21;124(1):65-73. Epub 2017 Sep 21.

Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/cncr.30971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5735010PMC
January 2018

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Hum Genet 2017 04 17;136(4):409-420. Epub 2017 Feb 17.

Office of Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive MSC 1851, Building 10, 10-C103, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s00439-017-1767-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5848494PMC
April 2017

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Mol Genet Metab 2017 04 27;120(4):378-383. Epub 2017 Feb 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395203PMC
April 2017

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Genet Med 2017 03 18;19(3):357-361. Epub 2016 Aug 18.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.nature.com/articles/gim2016105
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http://dx.doi.org/10.1038/gim.2016.105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316383PMC
March 2017

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

Am J Med Genet A 2017 Mar 4;173(3):661-666. Epub 2017 Jan 4.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38005DOI Listing
March 2017

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

Hum Mutat 2016 11 21;37(11):1144-1148. Epub 2016 Aug 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/humu.23054DOI Listing
November 2016

Detection and visualization of differential splicing in RNA-Seq data with JunctionSeq.

Nucleic Acids Res 2016 09 1;44(15):e127. Epub 2016 Jun 1.

Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/nar/gkw501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5009739PMC
September 2016

The cnidarian Hydractinia echinata employs canonical and highly adapted histones to pack its DNA.

Epigenetics Chromatin 2016 6;9(1):36. Epub 2016 Sep 6.

Centre for Chromosome Biology, School of Natural Sciences, National University of Ireland, Galway, Ireland.

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http://dx.doi.org/10.1186/s13072-016-0085-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011920PMC
September 2016

Alternative Isoform Analysis of Ttc8 Expression in the Rat Pineal Gland Using a Multi-Platform Sequencing Approach Reveals Neural Regulation.

PLoS One 2016;11(9):e0163590. Epub 2016 Sep 29.

Section on Neuroendocrinology, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, 20892, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0163590PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042479PMC
September 2016

Assessing the reproducibility of exome copy number variations predictions.

Genome Med 2016 08 8;8(1):82. Epub 2016 Aug 8.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1186/s13073-016-0336-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976506PMC
August 2016

Neurotranscriptomics: The Effects of Neonatal Stimulus Deprivation on the Rat Pineal Transcriptome.

PLoS One 2015 14;10(9):e0137548. Epub 2015 Sep 14.

Section on Neuroendocrinology, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0137548PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4569390PMC
June 2016

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants.

Clin Chem 2016 Apr 4;62(4):647-54. Epub 2016 Feb 4.

National Human Genome Research Institute, NIH, Bethesda, MD;

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http://dx.doi.org/10.1373/clinchem.2015.249623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878677PMC
April 2016

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

N Engl J Med 2016 Feb 3;374(7):656-63. Epub 2016 Feb 3.

From the Inflammatory Disease Section, National Human Genome Research Institute (S.E.B., C.L.S., D.L.K.), Mast Cell Biology Section, National Institute of Allergy and Infectious Diseases, (A.D., G.C., H.C.B., L.M.S., A.R.E., A.O., D.D.M., H.D.K.), Laboratory of Pathology, National Cancer Institute (C.-C.R.L.), and National Institutes of Health (NIH) Intramural Sequencing Center, National Human Genome Research Institute (J.C.M.), NIH, Bethesda, and Clinical Research Directorate-Clinical Monitoring Research Program, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick (M.L.Y.) - both in Maryland; Veterinary Pathology Section, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, NIH, Hamilton, MT (R.D.L.); the Department of Genetics, Yale University School of Medicine, New Haven, CT (A.J.P., K.K.K.); Medical Genetics Unit, Saint Joseph University, Beirut (E.C.) and Department of Life and Earth Sciences, Faculty of Sciences II, Lebanese University, Fanar (M.M.-H.) - both in Lebanon; and Institut Jérôme Lejeune, Paris (A.M.).

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http://dx.doi.org/10.1056/NEJMoa1500611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782791PMC
February 2016

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

J Med Genet 2015 Dec 18;52(12):830-9. Epub 2015 Sep 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517294PMC
December 2015

The transcription factors Ets1 and Sox10 interact during murine melanocyte development.

Dev Biol 2015 Nov 23;407(2):300-12. Epub 2015 Apr 23.

Department of Biological Sciences, Florida International University, Miami, FL, USA; Biomolecular Sciences Institute, Florida International University, Miami, FL. Electronic address:

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http://dx.doi.org/10.1016/j.ydbio.2015.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618791PMC
November 2015

QoRTs: a comprehensive toolset for quality control and data processing of RNA-Seq experiments.

BMC Bioinformatics 2015 Jul 19;16:224. Epub 2015 Jul 19.

Comparative Genomics Analysis Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

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https://bmcbioinformatics.biomedcentral.com/articles/10.1186
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http://dx.doi.org/10.1186/s12859-015-0670-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506620PMC
July 2015

Evaluation of variant detection software for pooled next-generation sequence data.

BMC Bioinformatics 2015 Jul 29;16:235. Epub 2015 Jul 29.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s12859-015-0624-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4518579PMC
July 2015

Maturation and Diversity of the VRC01-Antibody Lineage over 15 Years of Chronic HIV-1 Infection.

Cell 2015 04 9;161(3):470-485. Epub 2015 Apr 9.

Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA; Department of Biochemistry and Molecular Biophysics and Department of Systems Biology, Columbia University, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2015.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706178PMC
April 2015

DNA methylome and transcriptome sequencing in human ovarian granulosa cells links age-related changes in gene expression to gene body methylation and 3'-end GC density.

Oncotarget 2015 Feb;6(6):3627-43

Program in Genomics of Differentiation, Eunice Kennedy Shriver National Institute for Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414142PMC
http://dx.doi.org/10.18632/oncotarget.2875DOI Listing
February 2015

Genomic resources for the endangered Hawaiian honeycreepers.

BMC Genomics 2014 Dec 12;15:1098. Epub 2014 Dec 12.

Center for Conservation and Evolutionary Genetics, Smithsonian Conservation Biology Institute, Washington DC 20008, USA.

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http://dx.doi.org/10.1186/1471-2164-15-1098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4300047PMC
December 2014

Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.

PLoS Genet 2014 Oct 16;10(10):e1004575. Epub 2014 Oct 16.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199479PMC
October 2014

A defined zebrafish line for high-throughput genetics and genomics: NHGRI-1.

Genetics 2014 Sep 9;198(1):167-70. Epub 2014 Jul 9.

Developmental Genomics Section, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892

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http://dx.doi.org/10.1534/genetics.114.166769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4174928PMC
September 2014

The evolution of comparative genomics.

Authors:
James C Mullikin

Mol Genet Genomic Med 2014 Sep;2(5):363-8

Comparative Genomics Analysis Unit, National Human Genome Research Institute, National Institutes of Health Bethesda, Maryland, 20892.

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http://dx.doi.org/10.1002/mgg3.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190870PMC
September 2014

mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Ann Clin Transl Neurol 2014 Mar;1(3):190-198

NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/acn3.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019449PMC
March 2014

Using exome data to identify malignant hyperthermia susceptibility mutations.

Anesthesiology 2013 Nov;119(5):1043-53

* Research Associate, † Clinical Specialty Consultant, ‡ Staff Scientist, ‡‡ Branch Chief, Genetic Disease Research Branch, †† Director, National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, Maryland. # Research Associate, ** Professor of Human Molecular Genetics, Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom. § Postdoctoral Fellow, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health. Current position: Assistant Member, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida. ‖ Members of the National Institutes of Health Intramural Sequencing Center group are listed in the appendix.

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http://dx.doi.org/10.1097/ALN.0b013e3182a8a8e7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077354PMC
November 2013

De novo identification of VRC01 class HIV-1-neutralizing antibodies by next-generation sequencing of B-cell transcripts.

Proc Natl Acad Sci U S A 2013 Oct 8;110(43):E4088-97. Epub 2013 Oct 8.

Vaccine Research Center and NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.

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http://dx.doi.org/10.1073/pnas.1306262110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808619PMC
October 2013

Interpreting secondary cardiac disease variants in an exome cohort.

Circ Cardiovasc Genet 2013 Aug 16;6(4):337-46. Epub 2013 Jul 16.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1161/CIRCGENETICS.113.000039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887521PMC
August 2013

Extent of linkage disequilibrium in the domestic cat, Felis silvestris catus, and its breeds.

PLoS One 2013 7;8(1):e53537. Epub 2013 Jan 7.

Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0053537PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538540PMC
July 2013

Great ape genetic diversity and population history.

Nature 2013 Jul 3;499(7459):471-5. Epub 2013 Jul 3.

Institut de Biologia Evolutiva, CSIC-Universitat Pompeu Fabra, PRBB, Doctor Aiguader 88, Barcelona, Catalonia 08003, Spain.

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http://dx.doi.org/10.1038/nature12228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822165PMC
July 2013

Shimmer: detection of genetic alterations in tumors using next-generation sequence data.

Bioinformatics 2013 Jun 24;29(12):1498-503. Epub 2013 Apr 24.

Genome Technology Branch, NHGRI/NIH, Bethesda, MD 20892-9400, USA.

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http://dx.doi.org/10.1093/bioinformatics/btt183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673219PMC
June 2013

A scalable and flexible approach for investigating the genomic landscapes of phylogenetic incongruence.

Mol Phylogenet Evol 2013 Mar 13;66(3):1067-74. Epub 2012 Dec 13.

Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S10557903120047
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http://dx.doi.org/10.1016/j.ympev.2012.11.023DOI Listing
March 2013

Evolutionary dynamism of the primate LRRC37 gene family.

Genome Res 2013 Jan 11;23(1):46-59. Epub 2012 Oct 11.

Dipartimento di Biologia, Università degli Studi di Bari Aldo Moro, Bari 70126, Italy.

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http://dx.doi.org/10.1101/gr.138842.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530683PMC
January 2013

Circadian changes in long noncoding RNAs in the pineal gland.

Proc Natl Acad Sci U S A 2012 Aug 3;109(33):13319-24. Epub 2012 Aug 3.

Section on Neuroendocrinology, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1207748109
Publisher Site
http://dx.doi.org/10.1073/pnas.1207748109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421215PMC
August 2012