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Results: 1 to 20 of 92

1.

Opposing brain differences in 16p11.2 deletion and duplication carriers.

Qureshi AY, Mueller S, Snyder AZ, Mukherjee P, Berman JI, Roberts TP, Nagarajan SS, Spiro JE, Chung WK, Sherr EH, Buckner RL; Simons VIP Consortium.

J Neurosci. 2014 Aug 20;34(34):11199-211. doi: 10.1523/JNEUROSCI.1366-14.2014.

PMID:
25143601
[PubMed - in process]
2.

The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population.

Hanson E, Bernier R, Porche K, Jackson FI, Goin-Kochel RP, Snyder LG, Snow AV, Wallace AS, Campe KL, Zhang Y, Chen Q, D'Angelo D, Moreno-De-Luca A, Orr PT, Boomer KB, Evans DW, Kanne S, Berry L, Miller FK, Olson J, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK; on behalf of the Simons Variation in Individuals Project Consortium.

Biol Psychiatry. 2014 Jun 16. pii: S0006-3223(14)00427-2. doi: 10.1016/j.biopsych.2014.04.021. [Epub ahead of print]

PMID:
25064419
[PubMed - as supplied by publisher]
3.

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.

Tunovic S, Barkovich J, Sherr EH, Slavotinek AM.

Am J Med Genet A. 2014 Jul;164(7):1744-9. doi: 10.1002/ajmg.a.36450. Epub 2014 May 16.

PMID:
24838796
[PubMed - in process]
4.

Investigating microbial eukaryotic diversity from a global census: insights from a comparison of pyrotag and full-length sequences of 18S rRNA genes.

Lie AA, Liu Z, Hu SK, Jones AC, Kim DY, Countway PD, Amaral-Zettler LA, Cary SC, Sherr EB, Sherr BF, Gast RJ, Caron DA.

Appl Environ Microbiol. 2014 Jul;80(14):4363-73. doi: 10.1128/AEM.00057-14. Epub 2014 May 9.

PMID:
24814788
[PubMed - in process]
5.

Aberrant white matter microstructure in children with 16p11.2 deletions.

Owen JP, Chang YS, Pojman NJ, Bukshpun P, Wakahiro ML, Marco EJ, Berman JI, Spiro JE, Chung WK, Buckner RL, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P; Simons VIP Consortium.

J Neurosci. 2014 Apr 30;34(18):6214-23. doi: 10.1523/JNEUROSCI.4495-13.2014.

PMID:
24790192
[PubMed - indexed for MEDLINE]
6.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10.

PMID:
24726473
[PubMed - indexed for MEDLINE]
7.

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ.

Brain. 2014 Jun;137(Pt 6):1579-613. doi: 10.1093/brain/awt358. Epub 2014 Jan 28. Review.

PMID:
24477430
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
24098143
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Resting-state networks and the functional connectome of the human brain in agenesis of the corpus callosum.

Owen JP, Li YO, Yang FG, Shetty C, Bukshpun P, Vora S, Wakahiro M, Hinkley LB, Nagarajan SS, Sherr EH, Mukherjee P.

Brain Connect. 2013;3(6):547-62. doi: 10.1089/brain.2013.0175. Epub 2013 Nov 16.

PMID:
24063289
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

De novo mutations in epileptic encephalopathies.

Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR.

Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.

PMID:
23934111
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

The epilepsy phenome/genome project.

EPGP Collaborative, Abou-Khalil B, Alldredge B, Bautista J, Berkovic S, Bluvstein J, Boro A, Cascino G, Consalvo D, Cristofaro S, Crumrine P, Devinsky O, Dlugos D, Epstein M, Fahlstrom R, Fiol M, Fountain N, Fox K, French J, Freyer Karn C, Friedman D, Geller E, Glauser T, Glynn S, Haas K, Haut S, Hayward J, Helmers S, Joshi S, Kanner A, Kirsch H, Knowlton R, Kossoff E, Kuperman R, Kuzniecky R, Lowenstein D, McGuire S, Motika P, Nesbitt G, Novotny E, Ottman R, Paolicchi J, Parent J, Park K, Poduri A, Risch N, Sadleir L, Scheffer I, Shellhaas R, Sherr E, Shih JJ, Shinnar S, Singh R, Sirven J, Smith M, Sullivan J, Thio LL, Venkat A, Vining E, von Allmen G, Weisenberg J, Widdess-Walsh P, Winawer M.

Clin Trials. 2013 Aug;10(4):568-86. doi: 10.1177/1740774513484392. Epub 2013 Jul 1.

PMID:
23818435
[PubMed - indexed for MEDLINE]
12.

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S.

Ann Neurol. 2013 Aug;74(2):164-70. doi: 10.1002/ana.23950. Review.

PMID:
23775934
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
23704059
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Quantitative trait loci for interhemispheric commissure development and social behaviors in the BTBR T⁺ tf/J mouse model of autism.

Jones-Davis DM, Yang M, Rider E, Osbun NC, da Gente GJ, Li J, Katz AM, Weber MD, Sen S, Crawley J, Sherr EH.

PLoS One. 2013 Apr 15;8(4):e61829. doi: 10.1371/journal.pone.0061829. Print 2013.

PMID:
23613947
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG.

Am J Hum Genet. 2013 Mar 7;92(3):392-400. doi: 10.1016/j.ajhg.2013.02.004. Epub 2013 Feb 28.

PMID:
23453666
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Test-retest reliability of computational network measurements derived from the structural connectome of the human brain.

Owen JP, Ziv E, Bukshpun P, Pojman N, Wakahiro M, Berman JI, Roberts TP, Friedman EJ, Sherr EH, Mukherjee P.

Brain Connect. 2013;3(2):160-76. doi: 10.1089/brain.2012.0121. Erratum in: Brain Connect. 2013;3(3):316.

PMID:
23350832
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The structural connectome of the human brain in agenesis of the corpus callosum.

Owen JP, Li YO, Ziv E, Strominger Z, Gold J, Bukhpun P, Wakahiro M, Friedman EJ, Sherr EH, Mukherjee P.

Neuroimage. 2013 Apr 15;70:340-55. doi: 10.1016/j.neuroimage.2012.12.031. Epub 2012 Dec 23.

PMID:
23268782
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium.

J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203. Erratum in: J Med Genet. 2014 Jul;51(7):478.

PMID:
23054248
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Autism traits in individuals with agenesis of the corpus callosum.

Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr EH, Marco EJ.

J Autism Dev Disord. 2013 May;43(5):1106-18. doi: 10.1007/s10803-012-1653-2.

PMID:
23054201
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Children with autism show reduced somatosensory response: an MEG study.

Marco EJ, Khatibi K, Hill SS, Siegel B, Arroyo MS, Dowling AF, Neuhaus JM, Sherr EH, Hinkley LN, Nagarajan SS.

Autism Res. 2012 Oct;5(5):340-51. doi: 10.1002/aur.1247. Epub 2012 Aug 29.

PMID:
22933354
[PubMed - indexed for MEDLINE]
Free PMC Article

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