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» Authors » Sharon Suchy

Sharon Suchy

Explore the profile of Sharon Suchy including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 6
Citations 531
Followers 0
Related Specialties
Genetics
Endocrinology
Top 10 Co-Authors
Kirsty McWalter
Megan T Cho
Francisca Millan
Dmitriy Niyazov
Kristin G Monaghan
Katherine Kim
Ganka Douglas
Amy Lacroix
Dianne Laboy Cintron
Joline Dalton
Published In
Genet Med
Am J Hum Genet
Mol Genet Metab
Affiliations
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Recent Articles
1.
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature
Mohan S, Mayers M, Weaver M, Baudet H, De Biase I, Goldstein J, et al.
Mol Genet Metab . 2023 May; 139(3):107604. PMID: 37236006
Peroxisomal disorders are heterogeneous in nature, with phenotypic overlap that is indistinguishable without molecular testing. Newborn screening and gene sequencing for a panel of genes implicated in peroxisomal diseases are...
2.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
Latypova X, Vincent M, Molle A, Adebambo O, Fourgeux C, Khan T, et al.
Am J Hum Genet . 2021 Apr; 108(5):929-941. PMID: 33811806
Proteins involved in transcriptional regulation harbor a demonstrated enrichment of mutations in neurodevelopmental disorders. The Sin3 (Swi-independent 3)/histone deacetylase (HDAC) complex plays a central role in histone deacetylation and transcriptional...
3.
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Dines J, Golden-Grant K, Lacroix A, Muir A, Laboy Cintron D, McWalter K, et al.
Genet Med . 2018 Oct; 21(8):1899. PMID: 30327536
The original version of this Article contained an error in the spelling of the author J. Lawrence Merritt, which was incorrectly given as Lawrence Merritt. This has now been corrected...
4.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Dines J, Golden-Grant K, Lacroix A, Muir A, Laboy Cintron D, McWalter K, et al.
Genet Med . 2018 Sep; 21(3):601-607. PMID: 30245509
Purpose: TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described in the literature. Primary features include metabolic crisis with...
5.
Clinical application of whole-exome sequencing across clinical indications
Retterer K, Juusola J, Cho M, Vitazka P, Millan F, Gibellini F, et al.
Genet Med . 2015 Dec; 18(7):696-704. PMID: 26633542
Purpose: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive cases at a single clinical laboratory. Methods: WES was performed for many different clinical indications and included...
6.
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
Aradhya S, Lewis R, Bonaga T, Nwokekeh N, Stafford A, Boggs B, et al.
Genet Med . 2012 Mar; 14(6):594-603. PMID: 22382802
Purpose: Mendelian disorders are most commonly caused by mutations identifiable by DNA sequencing. Exonic deletions and duplications can go undetected by sequencing, and their frequency in most Mendelian disorders is...