Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27
Variant appearance in text: GAA: 1802C>T; Ser601Leu; rs374470794
Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.
Communications Biology
Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
Frontiers In Immunology
De Groot, Anne S AS; Desai, Ankit K AK; Lelias, Sandra S; Miah, S M Shahjahan SMS; Terry, Frances E FE; Khan, Sundos S; Li, Cindy C; Yi, John S JS; Ardito, Matt M; Martin, William D WD; Kishnani, Priya S PS
Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study.
Peerj
Vaeggemose, Michael M; Mencagli, Rosa Andersen RA; Hansen, Julie Schjødtz JS; Dräger, Bianca B; Ringgaard, Steffen S; Vissing, John J; Andersen, Henning H
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Khan, Aleena A AA; Case, Laura E LE; Herbert, Mrudu M; DeArmey, Stephanie S; Jones, Harrison H; Crisp, Kelly K; Zimmerman, Kanecia K; ElMallah, Mai K MK; Young, Sarah P SP; Kishnani, Priya S PS
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
Molecular Genetics And Metabolism Reports
Desai, Ankit K AK; Kazi, Zoheb B ZB; Bali, Deeksha S DS; Kishnani, Priya S PS
Publication Date: 2019-09
Variant appearance in text: GAA: 1802C>T; Ser601Leu
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
Molecular Genetics And Metabolism Reports
Al-Hassnan, Zuhair N ZN; Khalifa, Ola A OA; Bubshait, Dalal K DK; Tulbah, Sahar S; Alkorashy, Maarab M; Alzaidan, Hamad H; Alowain, Mohammed M; Rahbeeni, Zuhair Z; Al-Sayed, Moeen M
Publication Date: 2018-06
Variant appearance in text: GAA: 1802C>T; Ser601Leu
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Molecular Genetics And Metabolism
Mori, Mari M; Haskell, Gloria G; Kazi, Zoheb Z; Zhu, Xiaolin X; DeArmey, Stephanie M SM; Goldstein, Jennifer L JL; Bali, Deeksha D; Rehder, Catherine C; Cirulli, Elizabeth T ET; Kishnani, Priya S PS
Publication Date: 2017-12
Variant appearance in text: GAA: 1802C>T; Ser601Leu
Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.
Journal Of Pediatric Ophthalmology And Strabismus
Prakalapakorn, S Grace SG; Proia, Alan D AD; Yanovitch, Tammy L TL; DeArmey, Stephanie S; Mendelsohn, Nancy J NJ; Aleck, Kyrieckos A KA; Kishnani, Priya S PS
Publication Date: 2014
Variant appearance in text: GAA: 1802C>T; Ser601Leu
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
Orphanet Journal Of Rare Diseases
Prater, Sean N SN; Patel, Trusha T TT; Buckley, Anne F AF; Mandel, Hanna H; Vlodavski, Eugene E; Banugaria, Suhrad G SG; Feeney, Erin J EJ; Raben, Nina N; Kishnani, Priya S PS
Publication Date: 2013-06-20
Variant appearance in text: GAA: 1802C>T; Ser601Leu
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Orphanet Journal Of Rare Diseases
Herzog, Andreas A; Hartung, Ralf R; Reuser, Arnold J J AJ; Hermanns, Pia P; Runz, Heiko H; Karabul, Nesrin N; Gökce, Seyfullah S; Pohlenz, Joachim J; Kampmann, Christoph C; Lampe, Christina C; Beck, Michael M; Mengel, Eugen E
Publication Date: 2012-06-07
Variant appearance in text: GAA: 1802C>T; Ser601Leu
The emerging phenotype of long-term survivors with infantile Pompe disease.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Prater, Sean N SN; Banugaria, Suhrad G SG; DeArmey, Stephanie M SM; Botha, Eleanor G EG; Stege, Erin M EM; Case, Laura E LE; Jones, Harrison N HN; Phornphutkul, Chanika C; Wang, Raymond Y RY; Young, Sarah P SP; Kishnani, Priya S PS
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Bali, Deeksha S DS; Goldstein, Jennifer L JL; Banugaria, Suhrad S; Dai, Jian J; Mackey, Joanne J; Rehder, Catherine C; Kishnani, Priya S PS
Publication Date: 2012-02-15
Variant appearance in text: GAA: 1802C>T; Ser601Leu