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A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
J Clin Invest. 2024 Feb 15;134(4):e174824. doi: 10.1172/JCI174824.
J Clin Invest. 2024.
PMID: 38357931
Free PMC article.
Diagnostic and Prognostic Implications of GNAS Inactivation in Sonic Hedgehog-Activated Medulloblastoma: Case Report with Comprehensive Molecular Profiling and Review of Literature.
Goode E, Montoya L, Graham E, Pruniski B, Simmons C, Ngwube A, Hoffman LM, Tiwari N, Aldape K, Price HN, Paulson V, Mangum R.
Goode E, et al. Among authors: pruniski b.
JCO Precis Oncol. 2022 Mar;6:e2100403. doi: 10.1200/PO.21.00403.
JCO Precis Oncol. 2022.
PMID: 35357904
Free PMC article.
Review.
No abstract available.
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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
Bruel AL, Vitobello A, Thiffault I, Manwaring L, Willing M, Agrawal PB, Bayat A, Kitzler TM, Brownstein CA, Genetti CA, Gonzalez-Heydrich J, Jayakar P, Zyskind JW, Zhu Z, Vachet C, Wilson GR, Pruniski B, Goyette AM, Duffourd Y, Thauvin-Robinet C, Philippe C, Faivre L.
Bruel AL, et al. Among authors: pruniski b.
Eur J Hum Genet. 2022 Jan;30(1):111-116. doi: 10.1038/s41431-021-00985-9. Epub 2021 Oct 28.
Eur J Hum Genet. 2022.
PMID: 34707297
Free PMC article.
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KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Zhang Y, Tachtsidis G, Schob C, Koko M, Hedrich UBS, Lerche H, Lemke JR, van Haeringen A, Ruivenkamp C, Prescott T, Tveten K, Gerstner T, Pruniski B, DiTroia S, VanNoy GE, Rehm HL, McLaughlin H, Bolz HJ, Zechner U, Bryant E, McDonough T, Kindler S, Bähring R.
Zhang Y, et al. Among authors: pruniski b.
Hum Mol Genet. 2021 Nov 16;30(23):2300-2314. doi: 10.1093/hmg/ddab192.
Hum Mol Genet. 2021.
PMID: 34245260
Free PMC article.
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R.
Rots D, et al. Among authors: pruniski b.
Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27.
Am J Hum Genet. 2021.
PMID: 33909990
Free PMC article.
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Newborn screening for Pompe disease: impact on families.
Pruniski B, Lisi E, Ali N.
Pruniski B, et al.
J Inherit Metab Dis. 2018 Nov;41(6):1189-1203. doi: 10.1007/s10545-018-0159-2. Epub 2018 Mar 28.
J Inherit Metab Dis. 2018.
PMID: 29594646
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