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Items: 1 to 50 of 60

1.

Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).

Gregory A, Lotia M, Jeong SY, Fox R, Zhen D, Sanford L, Hamada J, Jahic A, Beetz C, Freed A, Kurian MA, Cullup T, van der Weijden MCM, Nguyen V, Setthavongsack N, Garcia D, Krajbich V, Pham T, Woltjer R, George BP, Minks KQ, Paciorkowski AR, Hogarth P, Jankovic J, Hayflick SJ.

Mol Genet Genomic Med. 2019 Jul;7(7):e00736. doi: 10.1002/mgg3.736. Epub 2019 May 13.

2.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.

3.

BioVR: a platform for virtual reality assisted biological data integration and visualization.

Zhang JF, Paciorkowski AR, Craig PA, Cui F.

BMC Bioinformatics. 2019 Feb 15;20(1):78. doi: 10.1186/s12859-019-2666-z.

4.

Association of Severe Hydrocephalus With Congenital Zika Syndrome.

van der Linden V, de Lima Petribu NC, Pessoa A, Faquini I, Paciorkowski AR, van der Linden H Jr, Silveira-Moriyama L, Cordeiro MT, Hazin AN, Barkovich AJ, Raybaud C, de Brito Abath M, Ribeiro E, Barros Jucá CE, Aragão MFVV, Coelho Travassos PT, Jungmann P.

JAMA Neurol. 2019 Feb 1;76(2):203-210. doi: 10.1001/jamaneurol.2018.3553.

5.

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.

Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15.

6.

Phenotypes, genotypes, and the management of paroxysmal movement disorders.

Silveira-Moriyama L, Kovac S, Kurian MA, Houlden H, Lees AJ, Walker MC, Roze E, Paciorkowski AR, Mink JW, Warner TT.

Dev Med Child Neurol. 2018 Jun;60(6):559-565. doi: 10.1111/dmcn.13744. Epub 2018 Mar 30. Review.

7.

Ode to the humble Southern blot in the era of exomes.

Paciorkowski AR.

Neurol Clin Pract. 2018 Feb;8(1):4-5. doi: 10.1212/CPJ.0000000000000414. No abstract available.

8.

Genetic Diagnostics for Neurologists.

Silveira-Moriyama L, Paciorkowski AR.

Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):18-36. doi: 10.1212/CON.0000000000000556. Review.

PMID:
29432235
9.

Expanding the neurodevelopmental phenotype of PURA syndrome.

Lee BH, Reijnders MRF, Abubakare O, Tuttle E, Lape B, Minks KQ, Stodgell C, Bennetto L, Kwon J, Fong CT, Gripp KW, Marsh ED, Smith WE, Huq AM, Coury SA, Tan WH, Solis O, Mehta RI, Leventer RJ, Baralle D, Hunt D, Paciorkowski AR.

Am J Med Genet A. 2018 Jan;176(1):56-67. doi: 10.1002/ajmg.a.38521. Epub 2017 Nov 17.

10.

CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.

Hsu T, Coughlin CC, Monaghan KG, Fiala E, McKinstry RC, Paciorkowski AR, Shinawi M.

Child Neurol Open. 2017 Oct 8;4:2329048X17733214. doi: 10.1177/2329048X17733214. eCollection 2017 Jan-Dec.

11.

Congenital Zika syndrome: an epidemic of neurologic disability.

Paciorkowski AR.

Arq Neuropsiquiatr. 2017 Aug;75(8):605. doi: 10.1590/0004-282X20170104. No abstract available.

12.

India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.

Zhang JF, James F, Shukla A, Girisha KM, Paciorkowski AR.

BMC Res Notes. 2017 Jun 27;10(1):233. doi: 10.1186/s13104-017-2556-2.

13.

PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.

Park K, Seltzer LE, Tuttle E, Mirzaa GM, Paciorkowski AR.

Am J Med Genet A. 2017 Jul;173(7):1951-1954. doi: 10.1002/ajmg.a.38236. Epub 2017 May 2.

14.

PURA-Related Neurodevelopmental Disorders.

Reijnders MRF, Leventer RJ, Lee BH, Baralle D, Selber P, Paciorkowski AR, Hunt D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2017 Apr 27.

15.

Developing a novel epileptic discharge localization algorithm for electroencephalogram infantile spasms during hypsarrhythmia.

Traitruengsakul S, Seltzer LE, Paciorkowski AR, Ghoraani B.

Med Biol Eng Comput. 2017 Sep;55(9):1659-1668. doi: 10.1007/s11517-017-1616-z. Epub 2017 Feb 9.

PMID:
28185049
16.

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A.

Ann Neurol. 2017 Mar;81(3):419-429. doi: 10.1002/ana.24883. Epub 2017 Feb 14.

17.

Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology.

Pröschel C, Hansen JN, Ali A, Tuttle E, Lacagnina M, Buscaglia G, Halterman MW, Paciorkowski AR.

Eur J Hum Genet. 2017 Feb;25(2):216-221. doi: 10.1038/ejhg.2016.145. Epub 2016 Dec 14.

18.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR.

Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10.

19.

Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

Ma M, Adams HR, Seltzer LE, Dobyns WB, Paciorkowski AR.

J Pediatr. 2016 Nov;178:233-240.e10. doi: 10.1016/j.jpeds.2016.08.032. Epub 2016 Sep 15.

20.

Delineation of the movement disorders associated with FOXG1 mutations.

Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA.

Neurology. 2016 May 10;86(19):1794-800. doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30.

21.

Automatic localization of epileptic spikes in eegs of children with infantile spasms.

Traitruengsakul S, Seltzer LE, Paciorkowski AR, Ghoraani B.

Conf Proc IEEE Eng Med Biol Soc. 2015;2015:6194-7. doi: 10.1109/EMBC.2015.7319807.

PMID:
26737707
22.

Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR.

Am J Med Genet A. 2015 Dec;167A(12):3096-102. doi: 10.1002/ajmg.a.37353. Epub 2015 Sep 14.

23.

Autism spectrum disorder and epilepsy: Disorders with a shared biology.

Lee BH, Smith T, Paciorkowski AR.

Epilepsy Behav. 2015 Jun;47:191-201. doi: 10.1016/j.yebeh.2015.03.017. Epub 2015 Apr 19. Review.

24.

De novo mutations in SIK1 cause a spectrum of developmental epilepsies.

Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR.

Am J Hum Genet. 2015 Apr 2;96(4):682-90. doi: 10.1016/j.ajhg.2015.02.013. Erratum in: Am J Hum Genet. 2015 Jun 4;96(6):1009.

25.

Characteristic Features of the Interictal EEG Background in 2 Patients With Malignant Migrating Partial Epilepsy in Infancy.

Selioutski O, Seltzer LE, Burchfiel J, Paciorkowski AR, Erba G.

J Clin Neurophysiol. 2015 Aug;32(4):e23-9. doi: 10.1097/WNP.0000000000000178.

26.

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S.

Epilepsia. 2015 Mar;56(3):422-30. doi: 10.1111/epi.12914. Epub 2015 Feb 5.

27.

An integrative computational approach for prioritization of genomic variants.

Dubchak I, Balasubramanian S, Wang S, Cem M, Sulakhe D, Poliakov A, Börnigen D, Xie B, Taylor A, Ma J, Paciorkowski AR, Mirzaa GM, Dave P, Agam G, Xu J, Al-Gazali L, Mason CE, Ross ME, Maltsev N, Gilliam TC.

PLoS One. 2014 Dec 15;9(12):e114903. doi: 10.1371/journal.pone.0114903. eCollection 2014. Erratum in: PLoS One. 2015;10(4):e0124700. Meyden, Cem [corrected to Meydan, Cem].

28.

Comparison of insertion/deletion calling algorithms on human next-generation sequencing data.

Ghoneim DH, Myers JR, Tuttle E, Paciorkowski AR.

BMC Res Notes. 2014 Dec 1;7:864. doi: 10.1186/1756-0500-7-864.

29.

Introduction: Brain malformations.

Mirzaa GM, 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.

PMID:
24853778
30.

Genetic disorders associated with postnatal microcephaly.

Seltzer LE, Paciorkowski AR.

Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Review.

PMID:
24839169
31.

Epilepsy and outcome in FOXG1-related disorders.

Seltzer LE, Ma M, Ahmed S, Bertrand M, Dobyns WB, Wheless J, Paciorkowski AR.

Epilepsia. 2014 Aug;55(8):1292-300. doi: 10.1111/epi.12648. Epub 2014 May 16.

32.

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M.

Hum Genet. 2014 Aug;133(8):1023-39. doi: 10.1007/s00439-014-1443-3. Epub 2014 Apr 20.

33.

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.

Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB.

Am J Hum Genet. 2014 Apr 3;94(4):634-41. doi: 10.1016/j.ajhg.2014.03.009.

34.

The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.

Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR.

Am J Med Genet A. 2014 Jun;164A(6):1503-11. doi: 10.1002/ajmg.a.36517. Epub 2014 Apr 3.

35.

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH.

PLoS Genet. 2013;9(10):e1003823. doi: 10.1371/journal.pgen.1003823. Epub 2013 Oct 3.

36.

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.

Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM.

Eur J Hum Genet. 2014 May;22(5):587-93. doi: 10.1038/ejhg.2013.196. Epub 2013 Sep 18.

37.

Phenotypic characteristics of early Wolfram syndrome.

Marshall BA, Permutt MA, Paciorkowski AR, Hoekel J, Karzon R, Wasson J, Viehover A, White NH, Shimony JS, Manwaring L, Austin P, Hullar TE, Hershey T; Washington University Wolfram Study Group.

Orphanet J Rare Dis. 2013 Apr 27;8:64. doi: 10.1186/1750-1172-8-64.

38.

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB.

Am J Med Genet A. 2013 Jul;161A(7):1523-30. doi: 10.1002/ajmg.a.35969. Epub 2013 May 23.

39.

CDKL5 and ARX mutations in males with early-onset epilepsy.

Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S.

Pediatr Neurol. 2013 May;48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030. Erratum in: Pediatr Neurol. 2013 Jul;49(1):74. Alkhateeb, Asem [added].

40.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM.

Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31.

41.

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, Cohen JS, Fatemi A, Dobyns WB, Shaffer LG, Ballif BC, Marsh ED.

Neurogenetics. 2013 May;14(2):99-111. doi: 10.1007/s10048-013-0356-y. Epub 2013 Feb 7.

42.

Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders.

Paciorkowski AR, Darras BT.

Neurology. 2013 Jan 29;80(5):426-7. doi: 10.1212/WNL.0b013e31827f101c. Epub 2013 Jan 2. No abstract available.

PMID:
23284070
43.

Reliability and validity of the Wolfram Unified Rating Scale (WURS).

Nguyen C, Foster ER, Paciorkowski AR, Viehoever A, Considine C, Bondurant A, Marshall BA, Hershey T; Washington University Wolfram Study Group.

Orphanet J Rare Dis. 2012 Nov 14;7:89. doi: 10.1186/1750-1172-7-89.

44.

Early brain vulnerability in Wolfram syndrome.

Hershey T, Lugar HM, Shimony JS, Rutlin J, Koller JM, Perantie DC, Paciorkowski AR, Eisenstein SA, Permutt MA; Washington University Wolfram Study Group.

PLoS One. 2012;7(7):e40604. doi: 10.1371/journal.pone.0040604. Epub 2012 Jul 11.

45.

Balance impairment in individuals with Wolfram syndrome.

Pickett KA, Duncan RP, Paciorkowski AR, Permutt MA, Marshall B, Hershey T, Earhart GM; Washington University Wolfram Study Group.

Gait Posture. 2012 Jul;36(3):619-24. Epub 2012 Jul 6.

46.

Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.

Hucthagowder V, Liu TC, Paciorkowski AR, Thio LL, Keller MS, Anderson CD, Herman T, Dehner LP, Grange DK, Kulkarni S.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):485-9. doi: 10.1016/j.ejmg.2012.04.003. Epub 2012 Apr 22.

PMID:
22579565
47.

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG.

Neurogenetics. 2012 Feb;13(1):31-47. doi: 10.1007/s10048-011-0306-5. Epub 2012 Jan 5.

PMID:
22218741
48.

Genetic and biologic classification of infantile spasms.

Paciorkowski AR, Thio LL, Dobyns WB.

Pediatr Neurol. 2011 Dec;45(6):355-67. doi: 10.1016/j.pediatrneurol.2011.08.010. Review.

49.

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.

Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2.

50.

Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms.

Paciorkowski AR, Shafrir Y, Hrivnak J, Patterson MC, Tennison MB, Clark HB, Gomez CM.

Neurology. 2011 Sep 13;77(11):1055-60. doi: 10.1212/WNL.0b013e31822e5627. Epub 2011 Aug 31.

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