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Items: 1 to 50 of 89

1.

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.

Neul JL, Skinner SA, Annese F, Lane J, Heydemann P, Jones M, Kaufmann WE, Glaze DG, Percy AK.

Front Integr Neurosci. 2020 Feb 25;14:7. doi: 10.3389/fnint.2020.00007. eCollection 2020.

2.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B.

Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27.

PMID:
32109418
3.

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study.

Stallworth JL, Dy ME, Buchanan CB, Chen CF, Scott AE, Glaze DG, Lane JB, Lieberman DN, Oberman LM, Skinner SA, Tierney AE, Cutter GR, Percy AK, Neul JL, Kaufmann WE.

Neurology. 2019 May 28;92(22):e2594-e2603. doi: 10.1212/WNL.0000000000007560. Epub 2019 May 3.

PMID:
31053667
4.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2019 May 2;10(1):2079. doi: 10.1038/s41467-019-10161-9.

5.

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.

Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK.

Clin Genet. 2019 May;95(5):575-581. doi: 10.1111/cge.13521. Epub 2019 Mar 15.

PMID:
30788845
6.

Correction to: Is the new ASNM intraoperative neuromonitoring supervision "guideline" a trustworthy guideline? A commentary.

Skinner SA, Aydinlar EI, Borges LF, Carter BS, Currier BL, Deletis V, Dong C, Dormans JP, Drost G, Fernandez-Conejero I, Hoffman EM, Holdefer RN, Kimaid PAT, Koht A, Kothbauer KF, MacDonald DB, McAuliffe JJ 3rd, Morledge DE, Morris SH, Norton J, Novak K, Park KS, Perra JH, Prell J, Rippe DM, Sala F, Schwartz DM, Segura MJ, Seidel K, Seubert C, Simon MV, Soto F, Strommen JA, Szelenyi A, Tello A, Ulkatan S, Urriza J, Wilkinson M.

J Clin Monit Comput. 2019 Apr;33(2):191-192. doi: 10.1007/s10877-019-00266-3.

7.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2019 Feb 15;10(1):883. doi: 10.1038/s41467-019-08800-2.

8.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J.

Genet Med. 2019 Sep;21(9):2036-2042. doi: 10.1038/s41436-019-0454-9. Epub 2019 Feb 11.

PMID:
30739909
9.

Biliary Tract Disease in Girls and Young Women With Rett Syndrome.

Motil KJ, Lane JB, Barrish JO, Annese F, Geerts S, McNair L, Skinner SA, Neul JL, Glaze DG, Percy AK.

J Pediatr Gastroenterol Nutr. 2019 Jun;68(6):799-805. doi: 10.1097/MPG.0000000000002273.

PMID:
30664568
10.

EOY summary 2018.

Hendrickx JF, De Wolf AM, Van Zundert T, Skinner SA.

J Clin Monit Comput. 2019 Apr;33(2):195-200. doi: 10.1007/s10877-019-00256-5. Epub 2019 Jan 16. Review.

PMID:
30652254
11.

Is the new ASNM intraoperative neuromonitoring supervision "guideline" a trustworthy guideline? A commentary.

Skinner SA, Aydinlar EI, Borges LF, Carter BS, Currier BL, Deletis V, Dong C, Dormans JP, Drost G, Fernandez-Conejero I, Hoffman EM, Holdefer RN, Kimaid PAT, Koht A, Kothbauer KF, MacDonald DB, McAuliffe JJ 3rd, Morledge DE, Morris SH, Norton J, Novak K, Park KS, Perra JH, Prell J, Rippe DM, Sala F, Schwartz DM, Segura MJ, Seidel K, Seubert C, Simon MV, Soto F, Strommen JA, Szelenyi A, Tello A, Ulkatan S, Urriza J, Wilkinson M.

J Clin Monit Comput. 2019 Apr;33(2):185-190. doi: 10.1007/s10877-018-00242-3. Epub 2019 Jan 5. No abstract available. Erratum in: J Clin Monit Comput. 2019 Feb 16;:.

12.

The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.

Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK.

Am J Med Genet B Neuropsychiatr Genet. 2019 Jan;180(1):55-67. doi: 10.1002/ajmg.b.32707. Epub 2018 Dec 7.

13.

Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.

Warren HE, Louie RJ, Friez MJ, Frías JL, Leroy JG, Spranger JW, Skinner SA, Champaigne NL.

Clin Case Rep. 2018 Oct 15;6(11):2252-2255. doi: 10.1002/ccr3.1818. eCollection 2018 Nov.

14.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Erratum in: Nat Commun. 2019 Feb 15;10(1):883. Nat Commun. 2019 May 2;10(1):2079.

15.

Behavioral profiles in Rett syndrome: Data from the natural history study.

Buchanan CB, Stallworth JL, Scott AE, Glaze DG, Lane JB, Skinner SA, Tierney AE, Percy AK, Neul JL, Kaufmann WE.

Brain Dev. 2019 Feb;41(2):123-134. doi: 10.1016/j.braindev.2018.08.008. Epub 2018 Sep 11.

16.

Letter: Guidelines for the use of Electrophysiological Monitoring for Surgery of the Human Spinal Column and Spinal Cord.

Sala F, Skinner SA, Arle JE, Constantini S, Deletis V, Kothbauer KF, MacDonald DB, Shils J, Soto F, Szelenyi A.

Neurosurgery. 2018 Aug 1;83(2):E82-E84. doi: 10.1093/neuros/nyy231. No abstract available.

PMID:
29893917
17.

When Rett syndrome is due to genes other than MECP2.

Percy AK, Lane J, Annese F, Warren H, Skinner SA, Neul JL.

Transl Sci Rare Dis. 2018 Apr 13;3(1):49-53. doi: 10.3233/TRD-180021.

18.

The course of awake breathing disturbances across the lifespan in Rett syndrome.

Tarquinio DC, Hou W, Neul JL, Berkmen GK, Drummond J, Aronoff E, Harris J, Lane JB, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Percy AK.

Brain Dev. 2018 Aug;40(7):515-529. doi: 10.1016/j.braindev.2018.03.010. Epub 2018 Apr 12.

19.

A randomized controlled trial of levodopa in patients with Angelman syndrome.

Tan WH, Bird LM, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA.

Am J Med Genet A. 2018 May;176(5):1099-1107. doi: 10.1002/ajmg.a.38457. Epub 2017 Sep 25.

20.

Noonan syndrome in diverse populations.

Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M.

Am J Med Genet A. 2017 Sep;173(9):2323-2334. doi: 10.1002/ajmg.a.38362. Epub 2017 Jul 27.

21.

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.

Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.

Pediatr Neurol. 2017 May;70:20-25. doi: 10.1016/j.pediatrneurol.2017.01.032. Epub 2017 Feb 7.

22.

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges.

Kaufmann WE, Stallworth JL, Everman DB, Skinner SA.

Expert Opin Orphan Drugs. 2016 Oct 2;4(10):1043-1055. doi: 10.1080/21678707.2016.1229181. Epub 2016 Sep 10. Review.

23.

Assessment of Caregiver Inventory for Rett Syndrome.

Lane JB, Salter AR, Jones NE, Cutter G, Horrigan J, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.

J Autism Dev Disord. 2017 Apr;47(4):1102-1112. doi: 10.1007/s10803-017-3034-3.

24.

Longitudinal course of epilepsy in Rett syndrome and related disorders.

Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG.

Brain. 2017 Feb;140(2):306-318. doi: 10.1093/brain/aww302. Epub 2016 Dec 21.

25.

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.

Ward CS, Huang TW, Herrera JA, Samaco RC, Pitcher MR, Herron A, Skinner SA, Kaufmann WE, Glaze DG, Percy AK, Neul JL.

PLoS One. 2016 Nov 9;11(11):e0165550. doi: 10.1371/journal.pone.0165550. eCollection 2016.

26.

Importance of genetic testing in global health during the evaluation of familial microcephaly.

Molinero I, Broman-Fulks J, Lyons MJ, Matheus MG, Chaubey A, DuPont BR, Friez MJ, Skinner SA, Holden KR.

Clin Case Rep. 2016 Aug 26;4(10):968-971. eCollection 2016 Oct.

27.

Commentary : The value of intraoperative neurophysiological monitoring: evidence, equipoise and outcomes.

Holdefer RN, Skinner SA.

J Clin Monit Comput. 2017 Aug;31(4):657-664. doi: 10.1007/s10877-016-9910-0. Epub 2016 Aug 1. Review.

PMID:
27481235
28.

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL.

Genet Med. 2017 Jan;19(1):13-19. doi: 10.1038/gim.2016.42. Epub 2016 May 12.

29.

Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.

Killian JT Jr, Lane JB, Lee HS, Pelham JH, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK.

Pediatr Neurol. 2016 May;58:67-74. doi: 10.1016/j.pediatrneurol.2015.12.021. Epub 2016 Jan 11.

30.

An evaluation of motor evoked potential surrogate endpoints during intracranial vascular procedures.

Holdefer RN, MacDonald DB, Guo L, Skinner SA.

Clin Neurophysiol. 2016 Feb;127(2):1717-1725. doi: 10.1016/j.clinph.2015.09.133. Epub 2015 Oct 14.

PMID:
26522941
31.

IONM evidence: Putting the work and insight of Téllez et al. in context.

Skinner SA, Holdefer RN.

Clin Neurophysiol. 2016 Feb;127(2):1015-1017. doi: 10.1016/j.clinph.2015.09.130. Epub 2015 Sep 30. No abstract available.

PMID:
26463475
32.

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

Tarquinio DC, Hou W, Neul JL, Kaufmann WE, Glaze DG, Motil KJ, Skinner SA, Lee HS, Percy AK.

Pediatr Neurol. 2015 Nov;53(5):402-11. doi: 10.1016/j.pediatrneurol.2015.06.003. Epub 2015 Jun 26.

33.

Foundations for evidence-based intraoperative neurophysiological monitoring.

Howick J, Cohen BA, McCulloch P, Thompson M, Skinner SA.

Clin Neurophysiol. 2016 Jan;127(1):81-90. doi: 10.1016/j.clinph.2015.05.033. Epub 2015 Jul 23. Review.

PMID:
26268581
34.

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis.

Tarquinio DC, Hou W, Neul JL, Lane JB, Barnes KV, O'Leary HM, Bruck NM, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Annese F, Baggett L, Barrish JO, Geerts SP, Percy AK.

Pediatr Neurol. 2015 Jun;52(6):585-91.e2. doi: 10.1016/j.pediatrneurol.2015.02.007. Epub 2015 Feb 16.

35.

To the editor.

Skinner SA, Cohen BA, Morledge DE, McAuliffe JJ, Hastings JD, Yingling CD, McCaffrey M.

J Clin Monit Comput. 2015 Apr;29(2):317-8. doi: 10.1007/s10877-014-9656-5. Epub 2015 Jan 14. No abstract available.

PMID:
25585534
36.

Somatosensory and motor evoked potentials as biomarkers for post-operative neurological status.

Holdefer RN, MacDonald DB, Skinner SA.

Clin Neurophysiol. 2015 May;126(5):857-65. doi: 10.1016/j.clinph.2014.11.009. Epub 2014 Nov 20. Review.

PMID:
25499613
37.

Pubertal development in Rett syndrome deviates from typical females.

Killian JT, Lane JB, Cutter GR, Skinner SA, Kaufmann WE, Tarquinio DC, Glaze DG, Motil KJ, Neul JL, Percy AK.

Pediatr Neurol. 2014 Dec;51(6):769-75. doi: 10.1016/j.pediatrneurol.2014.08.013. Epub 2014 Aug 29.

38.

Intraoperative recording of the bulbocavernosus reflex.

Skinner SA, Vodušek DB.

J Clin Neurophysiol. 2014 Aug;31(4):313-22. doi: 10.1097/WNP.0000000000000054. Review.

PMID:
25083842
39.

Pelvic autonomic neuromonitoring: present reality, future prospects.

Skinner SA.

J Clin Neurophysiol. 2014 Aug;31(4):302-12. doi: 10.1097/WNP.0000000000000055. Review.

PMID:
25083841
40.

Neuromonitoring below the belt.

Skinner SA.

J Clin Neurophysiol. 2014 Aug;31(4):301. doi: 10.1097/WNP.0000000000000081. No abstract available.

PMID:
25083840
41.

Developmental delay in Rett syndrome: data from the natural history study.

Neul JL, Lane JB, Lee HS, Geerts S, Barrish JO, Annese F, Baggett LM, Barnes K, Skinner SA, Motil KJ, Glaze DG, Kaufmann WE, Percy AK.

J Neurodev Disord. 2014;6(1):20. doi: 10.1186/1866-1955-6-20. Epub 2014 Jul 22.

42.

Intraoperative neuromonitoring alerts that reverse with intervention: treatment paradox and what to do about it.

Skinner SA, Holdefer RN.

J Clin Neurophysiol. 2014 Apr;31(2):118-26. doi: 10.1097/WNP.0000000000000030. Review.

PMID:
24691228
43.

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML.

J Med Genet. 2014 Mar;51(3):152-8. doi: 10.1136/jmedgenet-2013-102113. Epub 2014 Jan 7.

44.

Practice patterns for intraoperative neurophysiologic monitoring.

Skinner SA, Nuwer MR, Cohen BH, Shepard KM.

Neurology. 2013 Nov 5;81(19):1724. doi: 10.1212/01.wnl.0000437758.90416.db. No abstract available.

45.

Practice guidelines for the supervising professional: intraoperative neurophysiological monitoring.

Skinner SA, Cohen BA, Morledge DE, McAuliffe JJ, Hastings JD, Yingling CD, McCaffrey M.

J Clin Monit Comput. 2014 Apr;28(2):103-11.

46.

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Chapleau CA, Lane J, Kirwin SM, Schanen C, Vinette KM, Stubbolo D, MacLeod P, Glaze DG, Motil KJ, Neul JL, Skinner SA, Kaufmann WE, Percy AK.

Am J Med Genet A. 2013 Jul;161A(7):1638-46. doi: 10.1002/ajmg.a.35979. Epub 2013 May 21. Erratum in: Am J Med Genet A. 2014 May;164A(5):1346. Glaze, Daniel G [added]; Motil, Kathleen J [added]; Neul, Jeffrey L [added]; Skinner, Steven A [added]; Kaufmann, Walter E [added].

47.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME.

Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42. Epub 2013 Apr 16.

48.

Clinical utility of the X-chromosome array.

Zarate YA, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE.

Am J Med Genet A. 2013 Jan;161A(1):120-30. doi: 10.1002/ajmg.a.35698. Epub 2012 Dec 3.

PMID:
23208842
49.

Threshold testing of lumbosacral pedicle screws: a reappraisal.

Skinner SA, Rippe DM.

J Clin Neurophysiol. 2012 Dec;29(6):493-501. doi: 10.1097/WNP.0b013e3182768075. Review.

PMID:
23207588
50.

Spinal cord injury from electrocautery: observations in a porcine model using electromyography and motor evoked potentials.

Skinner SA, Hsu B, Transfeldt EE, Mehbod AA, Rippe DM, Wu C, Erkan S.

J Clin Monit Comput. 2013 Apr;27(2):195-201. doi: 10.1007/s10877-012-9417-2. Epub 2012 Nov 23.

PMID:
23179021

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