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Page 1
Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.
Miltgen M, Blanchard A, Mathieu H, Kreisler A, Jean-Pierre-Desvignes, Salgado D, Roubertie A, Barre L, Rai G, Blanck V, Frederic M, Douay X, Mazzolenni R, Charpentier P, Gonzalez V, Destée A, Béroud C, Collod-Béroud G. Miltgen M, et al. Among authors: rai g. Mov Disord. 2016 Aug;31(8):1251-2. doi: 10.1002/mds.26717. Epub 2016 Jul 9. Mov Disord. 2016. PMID: 27392807 Free article. No abstract available.
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Béroud C, Collod-Béroud G. Pinard A, et al. Among authors: rai g. Hum Mutat. 2016 Dec;37(12):1308-1317. doi: 10.1002/humu.23119. Epub 2016 Oct 10. Hum Mutat. 2016. PMID: 27647783
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Béroud C, Letovsky SI, Braastad CD, Caputo SM, Beaudoux O, Bignon YJ, Bressac-De Paillerets B, Bronner M, Buell CM, Collod-Béroud G, Coulet F, Derive N, Divincenzo C, Elzinga CD, Garrec C, Houdayer C, Karbassi I, Lizard S, Love A, Muller D, Nagan N, Nery CR, Rai G, Revillion F, Salgado D, Sévenet N, Sinilnikova O, Sobol H, Stoppa-Lyonnet D, Toulas C, Trautman E, Vaur D, Vilquin P, Weymouth KS, Willis A; Laboratory Corporation of America Variant Classification Group; Quest Diagnostics Variant Classification Group; UNICANCER Genetic Group BRCA Laboratory Network; Eisenberg M, Strom CM. Béroud C, et al. Among authors: rai g. Hum Mutat. 2016 Dec;37(12):1318-1328. doi: 10.1002/humu.23113. Epub 2016 Sep 28. Hum Mutat. 2016. PMID: 27633797 Free article.
A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis.
Gallego-Bustos F, Gotea V, Ramos-Amador JT, Rodríguez-Pena R, Gil-Herrera J, Sastre A, Delmiro A, Rai G, Elnitski L, González-Granado LI, Allende LM. Gallego-Bustos F, et al. Among authors: rai g. Front Immunol. 2016 Oct 27;7:443. doi: 10.3389/fimmu.2016.00443. eCollection 2016. Front Immunol. 2016. PMID: 27833609 Free PMC article.
The long-term impact of vaccine clinical research on national stakeholders involved: Experience from a low-income Country.
Haque Pial R, Rai GK, Shrestha R, Das SK, Chapagain RH, Chaudhary S, Tamrakar D, Kanodia P, Thapa P, Vemula S, Gupta BP, Hill A, Kimathi D, Baiden R, Kim HS, Excler JL, Wartel TA, Sahastrabuddhe S, Saluja T. Haque Pial R, et al. Among authors: rai gk. Hum Vaccin Immunother. 2025 Dec;21(1):2441425. doi: 10.1080/21645515.2024.2441425. Epub 2024 Dec 26. Hum Vaccin Immunother. 2025. PMID: 39723535 Free article.
A selective small-molecule agonist of G protein-gated inwardly-rectifying potassium channels reduces epileptiform activity in mouse models of tumor-associated and provoked seizures.
Rifkin RA, Wu X, Pereira B, Gill BJ, Merricks EM, Michalak AJ, Goldberg AR, Humala N, Dovas A, Rai G, McKhann GM, Slesinger PA, Canoll P, Schevon C. Rifkin RA, et al. Among authors: rai g. Neuropharmacology. 2024 Dec 9;265:110259. doi: 10.1016/j.neuropharm.2024.110259. Online ahead of print. Neuropharmacology. 2024. PMID: 39662702
520 results