Výsledky vyhledávání - "Andrea M. Atherton"

The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene

Autor: Emily C. Lisi, Sarah Macklin, Elizabeth F. Smith, Dawn Laney, Andrea M. Atherton

Publikováno v: Journal of Genetic Counseling. 27:217-224

The clinical significance of the c.427G>A (p.A143T) variant in GLA is a topic of debate within the lysosomal storage disease community. A review of the literature and published case reports found the clinical impact of the variant to range from class

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1bfbb737130813ade87f53f9c74e5e6
https://doi.org/10.1007/s10897-017-0139-y

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Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing

Autor: Ahmed Abdelmoity, Bryce Heese, Neil A. Miller, Emily G. Farrow, Lee Zellmer, Carol J Saunders, Andrea M. Atherton, Kailash Pawar, Sarah E Soden, Isabelle Thiffault

Publikováno v: Molecular Case Studies. 6:a003970

Status epilepticus is not rare in critically ill intensive care unit patients, but its diagnosis is often delayed or missed. The mortality for convulsive status epilepticus is dependent on the underlying aetiologies and the age of the patients and th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6f065fb1574ce5007dacdb88355bb178
https://doi.org/10.1101/mcs.a003970

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Ethical Considerations When Including Lysosomal Storage Disorders in Newborn Screening Programs

Autor: Catherine Walsh Vockley, Andrea M. Atherton

Publikováno v: Current Genetic Medicine Reports. 3:177-190

There is essentially unanimous agreement that newborn screening saves lives. Nevertheless, newborn screening—rated as one of the top 10 successes in public health in the first decade of the twenty-first century by the Centers for Disease Control an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::73b3782ca1fcb78d20eaa25f42d9995b
https://doi.org/10.1007/s40142-015-0081-y

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The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening

Autor: Debra L. Day-Salvatore, Andrea M. Atherton

Publikováno v: Pediatrics. 140(Suppl 1)

An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fd174fe7a19aaa88f5124401256cc64
https://pubmed.ncbi.nlm.nih.gov/29162676

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Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

Autor: Darrell L. Dinwiddie, Stephen F. Kingsmore, Carol J. Saunders, Emily G. Farrow, Laurie D. Smith, Andrea M. Atherton, Meghan Strenk, Neil A. Miller, Sarah E Soden

Publikováno v: Genomics. 102:148-156

Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome sequencing we demonstrate the ability to rapidly and cost effecti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0e6cf71959dbf8df0a9c511f8adcf30
https://doi.org/10.1016/j.ygeno.2013.04.013

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Exome Sequencing Reveals De Novo Germline Mutation of the Mammalian Target of Rapamycin (MTOR) in a Patient with Megalencephaly and Intractable Seizures

Autor: Darrell L. Dinwiddie, Laurie D. Smith, Ahmed Abdelmoity, Emily G. Farrow, Carol J Saunders, Stephen F. Kingsmore, Sarah E Soden, Andrea M. Atherton, Neil A. Miller

Publikováno v: Journal of Genomes and Exomes. 2:63-72

A de novo somatic mutation in the mammalian target of rapamycin (MTOR) has previously been described in one patient with hemimegalencephaly and epilepsy. Here, we present a case of a young girl with megalencephaly and intractable seizures who was fou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::82f47b8f44a0bd485815687f01b9ef90
https://doi.org/10.4137/jge.s12583

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HSP and deafness: Neurocristopathy caused by a novel mosaic

Autor: Sandra, Donkervoort, Diana, Bharucha-Goebel, Pomi, Yun, Ying, Hu, Payam, Mohassel, Ahmet, Hoke, Wadih M, Zein, Daniel, Ezzo, Andrea M, Atherton, Ann C, Modrcin, Majed, Dasouki, A Reghan, Foley, Carsten G, Bönnemann

Publikováno v: Neurology: Genetics

Objective: To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness. Methods: Whole-exome sequencing was performed, and segregation testing of variants was invest

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::82acdf442d37b61025420d91170cb298
https://pubmed.ncbi.nlm.nih.gov/28534044

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