Andrew Y Shuen
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Explore the profile of Andrew Y Shuen including associated specialties, affiliations and a list of published articles.
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16
Citations
223
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0
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Recent Articles
1.
Hartley T, Marshall D, Acker M, Fooks K, Gillespie M, Price E, et al.
Genet Med
. 2023 Nov;
26(2):101012.
PMID: 37924259
Purpose: To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases. Methods: We prospectively enrolled 297 probands who met eligibility criteria...
2.
Levitin M, Rawlins L, Sanchez-Andrade G, Arshad O, Collins S, Sawiak S, et al.
Brain
. 2023 Jul;
146(11):4766-4783.
PMID: 37437211
KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into...
3.
Leon L, Shuen A, Vizirakis M, McCord C
J Am Dent Assoc
. 2019 Mar;
150(9):788-793.
PMID: 30898306
No abstract available.
4.
Shuen A, Lanni S, Panigrahi G, Edwards M, Yu L, Campbell B, et al.
J Clin Oncol
. 2019 Jan;
37(6):461-470.
PMID: 30608896
Purpose: Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As several cancer syndromes are clinically similar, accurate...
5.
Aref-Eshghi E, Bend E, Hood R, Schenkel L, Carere D, Chakrabarti R, et al.
Nat Commun
. 2018 Nov;
9(1):4885.
PMID: 30459321
Coffin-Siris and Nicolaides-Baraitser syndromes (CSS and NCBRS) are Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling complex. We report overlapping peripheral blood DNA methylation epi-signatures in...
6.
Guarnieri V, Seaberg R, Kelly C, Jean Davidson M, Raphael S, Shuen A, et al.
BMC Med Genet
. 2017 Sep;
18(1):99.
PMID: 28903740
No abstract available.
7.
Guarnieri V, Seaberg R, Kelly C, Jean Davidson M, Raphael S, Shuen A, et al.
BMC Med Genet
. 2017 Aug;
18(1):83.
PMID: 28774260
Background: Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier...
8.
Coughlin 2nd C, van Karnebeek C, Al-Hertani W, Shuen A, Jaggumantri S, Jack R, et al.
Mol Genet Metab
. 2015 Jun;
116(1-2):35-43.
PMID: 26026794
Pyridoxine-dependent epilepsy (PDE) is an epileptic encephalopathy characterized by response to pharmacologic doses of pyridoxine. PDE is caused by deficiency of α-aminoadipic semialdehyde dehydrogenase resulting in impaired lysine degradation and...
9.
Yeung K, Chee Y, Luk H, Kan A, Tang M, Lau E, et al.
Am J Med Genet A
. 2014 Jul;
164A(10):2521-8.
PMID: 25044945
We report on a baby girl with multiple congenital abnormalities, including cleft palate, intrauterine growth restriction, and double outlet right ventricle (DORV) with ventricular septal defect. She had an unbalanced...
10.
Foulkes W, Shuen A
J Pathol
. 2013 Apr;
230(4):347-9.
PMID: 23620175
The discovery of the first major breast cancer susceptibility gene, BRCA1, occurred almost 20 years ago. BRCA1, together with BRCA2 remain the most important discoveries in human cancer genetics. Identification...