Amy Knight Johnson
Overview
Explore the profile of Amy Knight Johnson including associated specialties, affiliations and a list of published articles.
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13
Citations
333
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Recent Articles
1.
Brandt T, Sack L, Arjona D, Tan D, Mei H, Cui H, et al.
Genet Med
. 2019 Dec;
22(3):670-671.
PMID: 31844178
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
2.
Wain K, Azzariti D, Goldstein J, Johnson A, Krautscheid P, Lepore B, et al.
Genet Med
. 2019 Nov;
22(4):785-792.
PMID: 31754268
Purpose: Genomic testing is routinely utilized across clinical settings and can have significant variant interpretation challenges. The extent of genetic counselor (GC) engagement in variant interpretation in clinical practice is...
3.
Brandt T, Sack L, Arjona D, Tan D, Mei H, Cui H, et al.
Genet Med
. 2019 Sep;
22(2):336-344.
PMID: 31534211
Purpose: The ability of a single technology, next-generation sequencing, to provide both sequence and copy number variant (CNV) results has driven the merger of clinical cytogenetics and molecular genetics. Consequently,...
4.
Panou V, Gadiraju M, Wolin A, Weipert C, Skarda E, Husain A, et al.
J Clin Oncol
. 2018 Aug;
36(28):2863-2871.
PMID: 30113886
Purpose: The aim of the current study was to determine the prevalence and clinical predictors of germline cancer susceptibility mutations in patients with malignant mesothelioma (MM). Methods: We performed targeted...
5.
Sun M, Johnson A, Nelakuditi V, Guidugli L, Fischer D, Arndt K, et al.
Genet Med
. 2018 Jun;
21(1):195-206.
PMID: 29915382
Purpose: To examine the impact of a targeted exome approach for the molecular diagnosis of patients nationwide with a wide range of ataxia-related phenotypes. Methods: One hundred and seventy patients...
6.
Johnson A, Del Gaudio D
Per Med
. 2018 May;
11(2):155-165.
PMID: 29751380
Monogenic diabetes resulting from mutations that primarily reduce insulin-secreting pancreatic β-cell function accounts for 1-2% of all cases of diabetes, and is genetically and clinically heterogeneous. Currently, genetic testing for...
7.
Helgeson M, Keller-Ramey J, Johnson A, Lee J, Magner D, Deml B, et al.
J Hum Genet
. 2017 Dec;
63(3):349-356.
PMID: 29279609
Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex, account...
8.
Johnson A, Schaefer G, Lee J, Hu Y, Del Gaudio D
Am J Med Genet A
. 2017 Apr;
173(5):1378-1382.
PMID: 28371479
CHIME syndrome is a rare autosomal recessive neuroectodermal disorder associated with biallelic mutations in PIGL. To date, six molecularly confirmed cases of CHIME syndrome have been reported. Here, we report...
9.
ODaniel J, McLaughlin H, Amendola L, Bale S, Berg J, Bick D, et al.
Genet Med
. 2016 Nov;
19(5):575-582.
PMID: 27811861
Purpose: While the diagnostic success of genomic sequencing expands, the complexity of this testing should not be overlooked. Numerous laboratory processes are required to support the identification, interpretation, and reporting...
10.
Alkorta-Aranburu G, Sukhanova M, Carmody D, Hoffman T, Wysinger L, Keller-Ramey J, et al.
J Pediatr Endocrinol Metab
. 2016 Feb;
29(5):523-31.
PMID: 26894574
Background: We evaluated a methylation-specific multiplex-ligation-dependent probe amplification (MS-MLPA) assay for the molecular diagnosis of transient neonatal diabetes mellitus (TNDM) caused by 6q24 abnormalities and assessed the clinical utility of...