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Year Number of Results
1993 1
1996 1
1997 1
2002 1
2007 1
2008 2
2009 2
2010 1
2011 7
2012 6
2013 8
2014 10
2015 8
2016 5
2017 12
2018 7
2019 4
2020 4
2021 1
2022 2
2023 2
2024 1
2025 0

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79 results

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Page 1
PURA-Related Neurodevelopmental Disorders.
Reijnders MRF, Leventer RJ, Lee BH, Baralle D, Selber P, Paciorkowski AR, Hunt D. Reijnders MRF, et al. Among authors: paciorkowski ar. 2017 Apr 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2017 Apr 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 28448108 Free Books & Documents. Review.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Stankiewicz P, et al. Among authors: paciorkowski ar. Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. Hum Mutat. 2012. PMID: 21948486 Free PMC article.
A diagnostic confidence scheme for CLN3 disease.
Masten MC, Corre C, Paciorkowski AR, Vierhile A, Adams HR, Vermilion J, Zimmerman GA, Augustine EF, Mink JW. Masten MC, et al. Among authors: paciorkowski ar. J Inherit Metab Dis. 2021 Nov;44(6):1453-1462. doi: 10.1002/jimd.12429. Epub 2021 Sep 7. J Inherit Metab Dis. 2021. PMID: 34453334 Free PMC article.
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA. Tripathy R, et al. Among authors: paciorkowski ar. Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15. Neuron. 2018. PMID: 30449657 Free PMC article.
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M, Gable DL, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, DeGusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi-Fakhari D, Lai A, O'Donnell-Luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S. Chopra M, et al. Among authors: paciorkowski ar. Ann Clin Transl Neurol. 2022 Feb;9(2):193-205. doi: 10.1002/acn3.51506. Epub 2022 Jan 24. Ann Clin Transl Neurol. 2022. PMID: 35076175 Free PMC article.
Introduction: Brain malformations.
Mirzaa GM, Paciorkowski AR. Mirzaa GM, et al. Among authors: paciorkowski ar. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):117-23. doi: 10.1002/ajmg.c.31404. Epub 2014 May 22. Am J Med Genet C Semin Med Genet. 2014. PMID: 24853778
Genetic Diagnostics for Neurologists.
Silveira-Moriyama L, Paciorkowski AR. Silveira-Moriyama L, et al. Among authors: paciorkowski ar. Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):18-36. doi: 10.1212/CON.0000000000000556. Continuum (Minneap Minn). 2018. PMID: 29432235 Review.
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF. XiangWei W, et al. Among authors: paciorkowski ar. Cell Mol Life Sci. 2023 Nov 3;80(11):345. doi: 10.1007/s00018-023-04991-6. Cell Mol Life Sci. 2023. PMID: 37921875 Free PMC article.
79 results