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Author Details

Megan S Kane
Maryland Inova Translational Medicine Institute, Inova Health System
2012
14
12
PMIDPaper TitleJournal TitlePublished Year
30423312Glycomics in rare diseases: from diagnosis tomechanism.Transl Res2019
31226715EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.Neuropediatrics2019
30906834Endosomal trafficking defects in patient cells with <i>KIAA1109</i> biallelic variants.Genes Dis2019
28603714Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Front Med (Lausanne)2017
28344780Abnormal glycosylation in Joubert syndrome type 10.Cilia2017
28617419Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.Genet Med2017
26805780Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.Am J Hum Genet2016
26668131Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.J Med Genet2016
27343256Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.Brain2016
25943031Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.Mol Genet Metab2015
25845469MED23-associated intellectual disability in a non-consanguineous family.Am J Med Genet A2015
23666920LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.Am J Med Genet A2013
24261709The Krüppel-like factor 2 and Krüppel-like factor 4 genes interact to maintain endothelial integrity in mouse embryonic vasculogenesis.BMC Dev Biol2013
22355414Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.PLoS One2012
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Collaborators

William A Gahl
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Co-authored papers 7
Cornelius F Boerkoel
University of British Columbia
Co-authored papers 7
Mariska Davids
University of Pretoria
Co-authored papers 6
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Miao He
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Gretchen Golas
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National Human Genome Research Institute, National Institutes of Health
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Jeremy Elson
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Elise Flynn
Royal Children's Hospital
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Rena Godfrey
National Human Genome Research Institute, National Institutes of Health
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Zoraida Diaz-Perez
University of Miami Miller School of Medicine
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David Draper
National Institutes of Health
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Damian Smedley
William Harvey Research Institute, Queen Mary University of London
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Zaheer Valivullah
Center for Mendelian Genomics, Broad Institute of MIT and Harvard
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Roxanne Fischer
National Human Genome Research Institute, National Institutes of Health
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Melissa A Haendel
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Dimitre R Simeonov
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Release 1.2