Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
Soden, Sarah E, Saunders, Carol J, Willig, Laurel K, Farrow, Emily G, Smith, Laurie D, Petrikin, Josh E, LePichon, Jean-Baptiste, Miller, Neil A, Thiffault, Isabelle, Dinwiddie, Darrell L, Twist, Greyson, Noll, Aaron, Heese, Bryce A, Zellmer, Lee, Atherton, Andrea M, Abdelmoity, Ahmed T, Safina, Nicole, Nyp, Sarah S, Zuccarelli, Britton, Larson, Ingrid A, Modrcin, Ann, Herd, Suzanne, Creed, Mitchell, Ye, Zhaohui, Yuan, Xuan, Brodsky, Robert A, Kingsmore, Stephen F
Published in Science translational medicine (03.12.2014)
Published in Science translational medicine (03.12.2014)
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Journal Article
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
Clarke, Lorne A., MD, CM, FRCPC, FCCMG, Atherton, Andrea M., MS, CGC, Burton, Barbara K., MD, FAAP, FACMG, Day-Salvatore, Debra L., MD, PhD, FAAP, FACMG, Kaplan, Paige, MBBCh, FRCPC, FCCMG, FAAP, FACMG, Leslie, Nancy D., MD, Scott, C. Ronald, MD, Stockton, David W., MD, FACMG, Thomas, Janet A., MD, FAAP, FACMG, Muenzer, Joseph, MD, PhD
Published in The Journal of pediatrics (01.03.2017)
Published in The Journal of pediatrics (01.03.2017)
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Journal Article
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase
Sass, Jörn Oliver, Walter, Melanie, Shield, Julian P. H., Atherton, Andrea M., Garg, Uttam, Scott, David, Woods, C. Geoffrey, Smith, Laurie D.
Published in Journal of inherited metabolic disease (01.05.2012)
Published in Journal of inherited metabolic disease (01.05.2012)
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Journal Article
Fabry disease in infancy and early childhood: a systematic literature review
Laney, Dawn A., Peck, Dawn S., Atherton, Andrea M., Manwaring, Linda P., Christensen, Katherine M., Shankar, Suma P., Grange, Dorothy K., Wilcox, William R., Hopkin, Robert J.
Published in Genetics in medicine (01.05.2015)
Published in Genetics in medicine (01.05.2015)
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Journal Article
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome
Dinwiddie, Darrell L., Smith, Laurie D., Miller, Neil A., Atherton, Andrea M., Farrow, Emily G., Strenk, Meghan E., Soden, Sarah E., Saunders, Carol J., Kingsmore, Stephen F.
Published in Genomics (San Diego, Calif.) (01.09.2013)
Published in Genomics (San Diego, Calif.) (01.09.2013)
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Journal Article
Fertility Management in Cystinosis: A Clinical Perspective
Langman, Craig B, Delos Santos, Rowena B, Ghossein, Cybele, Atherton, Andrea M, Levtchenko, Elena N, Servais, Aude
Published in Kidney international reports (01.02.2024)
Published in Kidney international reports (01.02.2024)
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Journal Article
HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation
Donkervoort, Sandra, Bharucha-Goebel, Diana, Yun, Pomi, Hu, Ying, Mohassel, Payam, Hoke, Ahmet, Zein, Wadih M, Ezzo, Daniel, Atherton, Andrea M, Modrcin, Ann C, Dasouki, Majed, Foley, A Reghan, Bönnemann, Carsten G
Published in Neurology. Genetics (01.06.2017)
Published in Neurology. Genetics (01.06.2017)
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Journal Article
Ashkenazi Jewish genetic disease carrier screening
Begleiter, Michael L., Buchholz, Janda L., Atherton, Andrea M., Mays, Lee Z., Lund, Molly M., Strenk, Meghan E.
Published in Genetics in medicine (01.06.2008)
Published in Genetics in medicine (01.06.2008)
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Journal Article
Maternal serum screening and 22q11.2 deletion syndrome
Begleiter, Michael L., Lund, Molly M., Atherton, Andrea M., Buchholz, Janda D., Ardinger, Holly H.
Published in American journal of medical genetics. Part A (15.02.2007)
Published in American journal of medical genetics. Part A (15.02.2007)
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Journal Article
Initial symptom presentation in young pediatric patients with classic pathogenic variants in the gene: Data from the Fabry MOPPet study
Laney, Dawn A., Houde, Morgan F., Foley, Allison, Peck, Dawn S., Atherton, Andrea M., Toler, Tomi L., Manwaring, Linda, Nimmons, Keirsa, Grange, Dorothy K., Kidwell, Christine, Heese, Bryce A., Holida, Myrl D., Auray-Blais, Christiane
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article
Initial symptom presentation in young pediatric patients with classic pathogenic variants in the GLA gene: Data from the Fabry MOPPet study
Laney, Dawn A., Houde, Morgan F., Foley, Allison, Peck, Dawn S., Atherton, Andrea M., Toler, Tomi L., Manwaring, Linda, Nimmons, Keirsa, Grange, Dorothy K., Kidwell, Christine, Heese, Bryce A., Holida, Myrl D., Auray-Blais, Christiane
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article
Longitudinal change in the urinary biomarkers of young pediatric patients with pathogenic variants in the GLAgene: Data from the MOPPet study
Laney, Dawn A., Holida, Myrl, Simmons, Morgan F., Nimmons, Keirsa, Atherton, Andrea M., Vengoechea, Elizabeth, Hall, Eric W., Kidwell, Christy F., Peck, Dawn, Manwaring, Linda, Toler, Tomi, Grange, Dorothy K., Heese, Bruce, Auray-Blais, Christiane
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Journal Article
Longitudinal change in the urinary biomarkers of young pediatric patients with pathogenic variants in the gene: Data from the MOPPet study
Laney, Dawn A., Holida, Myrl, Simmons, Morgan F., Nimmons, Keirsa, Atherton, Andrea M., Vengoechea, Elizabeth, Hall, Eric W., Kidwell, Christy F., Peck, Dawn, Manwaring, Linda, Toler, Tomi, Grange, Dorothy K., Heese, Bruce, Auray-Blais, Christiane
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Journal Article
Ethical Considerations When Including Lysosomal Storage Disorders in Newborn Screening Programs
Vockley, Catherine Walsh, Atherton, Andrea M.
Published in Current genetic medicine reports (01.12.2015)
Published in Current genetic medicine reports (01.12.2015)
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Journal Article
A prospective, multicenter pilot study of Fabry disease clinical and biochemical findings in young pediatric patients: The MOPPet baseline data
Laney, Dawn A., Simmons, Morgan F., Foley, Allison L., Smith, Elizabeth D., Hall, Eric W., Clark, Anne K., Peck, Dawn S., Atherton, Andrea M., Toler, Tomi L., Manwaring, Linda, Grange, Dorothy K., Kidwell, Christine F., Heese, Bruce A., Holida, Myrl D., Auray-Blais, Christiane
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article
Fabry disease: The α-galactosidase A (GLA) c.427G>A (A143T) mutation, effect of the 5′-10C>T polymorphism
Desnick, Robert J., Doheny, Dana O., Chen, Brenden, Yu, Chunli, Nazarenko, Irina, Lee, Beomhee, Atherton, Andrea M., Montel, Rachel, Singh, Asha, Kadirvel, Senkottuvelan
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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Journal Article
The first two years of full population pilot newborn screening for lysosomal disorders: The Missouri experience
Atherton, Andrea M., Peck, Dawn, Christensen, Katherine, Smith, Kayla, Manwaring, Linda, Hopkins, Patrick, Rogers, Sharmini, Kiesling, Jami, Font-Montgomery, Esperanza, Hillman, Richard, Braddock, Stephen, Shinawi, Marwan, Grange, Dorothy K., Heese, Bryce A.
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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Journal Article
Newborn screening for Fabry disease: Is the A143T allele a pathogenic mutation or a pseudodeficiency allele?
Atherton, Andrea M., Doheny, Dana, Peck, Dawn, Christensen, Katherine, Smith, Kayla, Manwaring, Linda, Kiesling, Jami, Hillman, Richard, Font-Montgomery, Esperanza, Shinawi, Marwan, Grange, Dorothy K., Desnick, Robert J., Heese, Bryce A.
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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Journal Article
HSP and deafness: Neurocristopathy caused by a novel mosaic
Donkervoort, Sandra, Bharucha-Goebel, Diana, Yun, Pomi, Hu, Ying, Mohassel, Payam, Hoke, Ahmet, Zein, Wadih M., Ezzo, Daniel, Atherton, Andrea M., Modrcin, Ann C., Dasouki, Majed, Foley, A. Reghan, Bönnemann, Carsten G.
Published in Neurology. Genetics (15.05.2017)
Published in Neurology. Genetics (15.05.2017)
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Journal Article