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Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
McQuaid ME, Ahmed K, Tran S, Rousseau J, Shaheen R, Kernohan KD, Yuki KE, Grover P, Dreseris ES, Ahmed S, Dupuis L, Stimec J, Shago M, Al-Hassnan ZN, Tremblay R, Maass PG, Wilson MD, Grunebaum E, Boycott KM, Boisvert FM, Maddirevula S, Faqeih EA, Almanjomi F, Khan ZU, Alkuraya FS, Campeau PM, Kannu P, Campos EI, Wurtele H. McQuaid ME, et al. Among authors: maass pg. JCI Insight. 2022 May 23;7(10):e155648. doi: 10.1172/jci.insight.155648. JCI Insight. 2022. PMID: 35603789 Free PMC article.
A noncoding single-nucleotide polymorphism at 8q24 drives IDH1-mutant glioma formation.
Yanchus C, Drucker KL, Kollmeyer TM, Tsai R, Winick-Ng W, Liang M, Malik A, Pawling J, De Lorenzo SB, Ali A, Decker PA, Kosel ML, Panda A, Al-Zahrani KN, Jiang L, Browning JWL, Lowden C, Geuenich M, Hernandez JJ, Gosio JT, Ahmed M, Loganathan SK, Berman J, Trcka D, Michealraj KA, Fortin J, Carson B, Hollingsworth EW, Jacinto S, Mazrooei P, Zhou L, Elia A, Lupien M, He HH, Murphy DJ, Wang L, Abyzov A, Dennis JW, Maass PG, Campbell K, Wilson MD, Lachance DH, Wrensch M, Wiencke J, Mak T, Pennacchio LA, Dickel DE, Visel A, Wrana J, Taylor MD, Zadeh G, Dirks P, Eckel-Passow JE, Attisano L, Pombo A, Ida CM, Kvon EZ, Jenkins RB, Schramek D. Yanchus C, et al. Among authors: maass pg. Science. 2022 Oct 7;378(6615):68-78. doi: 10.1126/science.abj2890. Epub 2022 Oct 6. Science. 2022. PMID: 36201590 Free PMC article.
Systematic characterization of regulatory variants of blood pressure genes.
Oliveros W, Delfosse K, Lato DF, Kiriakopulos K, Mokhtaridoost M, Said A, McMurray BJ, Browning JWL, Mattioli K, Meng G, Ellis J, Mital S, Melé M, Maass PG. Oliveros W, et al. Among authors: maass pg. Cell Genom. 2023 May 24;3(7):100330. doi: 10.1016/j.xgen.2023.100330. eCollection 2023 Jul 12. Cell Genom. 2023. PMID: 37492106 Free PMC article.
PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Mühl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Rüschendorf F, Hübner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bähring S. Maass PG, et al. Nat Genet. 2015 Jun;47(6):647-53. doi: 10.1038/ng.3302. Epub 2015 May 11. Nat Genet. 2015. PMID: 25961942 Free article.
High-throughput identification of RNA nuclear enrichment sequences.
Shukla CJ, McCorkindale AL, Gerhardinger C, Korthauer KD, Cabili MN, Shechner DM, Irizarry RA, Maass PG, Rinn JL. Shukla CJ, et al. Among authors: maass pg. EMBO J. 2018 Mar 15;37(6):e98452. doi: 10.15252/embj.201798452. Epub 2018 Jan 15. EMBO J. 2018. PMID: 29335281 Free PMC article.
33 results