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Items: 1 to 20 of 109

1.

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.

Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S.

Am J Med Genet A. 2016 May 2. doi: 10.1002/ajmg.a.37670. [Epub ahead of print]

PMID:
27133397
2.

The Contribution of the Corpus Callosum to Language Lateralization.

Hinkley LB, Marco EJ, Brown EG, Bukshpun P, Gold J, Hill S, Findlay AM, Jeremy RJ, Wakahiro ML, Barkovich AJ, Mukherjee P, Sherr EH, Nagarajan SS.

J Neurosci. 2016 Apr 20;36(16):4522-33. doi: 10.1523/JNEUROSCI.3850-14.2016.

PMID:
27098695
3.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DG, de Vries BB, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KL, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH.

Am J Hum Genet. 2016 Apr 13. pii: S0002-9297(16)30037-4. doi: 10.1016/j.ajhg.2016.03.002. [Epub ahead of print]

PMID:
27087320
4.

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

Marsh AP, Lukic V, Pope K, Bromhead C, Tankard R, Ryan MM, Yiu EM, Sim JC, Delatycki MB, Amor DJ, McGillivray G, Sherr EH, Bahlo M, Leventer RJ, Lockhart PJ.

Neurol Genet. 2015 Jul 16;1(2):e16. doi: 10.1212/NXG.0000000000000014. eCollection 2015 Aug.

5.

Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers.

Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Sherr EH, Roberts TP.

AJNR Am J Neuroradiol. 2016 Feb 11. [Epub ahead of print]

PMID:
26869473
6.

A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.

Bassuk AG, Sherr EH.

J Neurogenet. 2015 Dec;29(4):174-7. doi: 10.3109/01677063.2015.1088847. Epub 2016 Jan 4.

7.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium.

JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123.

PMID:
26629640
8.

Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy.

Uzgil B, Sherr EH.

Neurology. 2016 Jan 5;86(1):15-6. doi: 10.1212/WNL.0000000000002227. Epub 2015 Nov 18. No abstract available.

PMID:
26581303
9.

Abnormal auditory and language pathways in children with 16p11.2 deletion.

Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Spiro JE, Sherr EH, Roberts TP.

Neuroimage Clin. 2015 Aug 1;9:50-7. doi: 10.1016/j.nicl.2015.07.006. eCollection 2015.

10.

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH.

Ann Clin Transl Neurol. 2015 Jun;2(6):623-35. doi: 10.1002/acn3.198. Epub 2015 May 1.

11.

White Matter Changes of Neurite Density and Fiber Orientation Dispersion during Human Brain Maturation.

Chang YS, Owen JP, Pojman NJ, Thieu T, Bukshpun P, Wakahiro ML, Berman JI, Roberts TP, Nagarajan SS, Sherr EH, Mukherjee P.

PLoS One. 2015 Jun 26;10(6):e0123656. doi: 10.1371/journal.pone.0123656. eCollection 2015.

12.

Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK.

Genet Med. 2016 Apr;18(4):341-9. doi: 10.1038/gim.2015.78. Epub 2015 Jun 11.

PMID:
26066539
13.

Estimating Protistan Diversity Using High-Throughput Sequencing.

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

J Eukaryot Microbiol. 2015 Sep-Oct;62(5):688-93. doi: 10.1111/jeu.12217. Epub 2015 Apr 25.

PMID:
25851049
14.

Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication.

Jenkins J 3rd, Chow V, Blaskey L, Kuschner E, Qasmieh S, Gaetz L, Edgar JC, Mukherjee P, Buckner R, Nagarajan SS, Chung WK, Spiro JE, Sherr EH, Berman JI, Roberts TP.

Cereb Cortex. 2016 May;26(5):1957-64. doi: 10.1093/cercor/bhv008. Epub 2015 Feb 11.

PMID:
25678630
15.

Individuals with agenesis of the corpus callosum show sensory processing differences as measured by the sensory profile.

Demopoulos C, Arroyo MS, Dunn W, Strominger Z, Sherr EH, Marco E.

Neuropsychology. 2015 Sep;29(5):751-8. doi: 10.1037/neu0000165. Epub 2014 Dec 22.

PMID:
25528608
16.

Epileptic encephalopathies: new genes and new pathways.

Nieh SE, Sherr EH.

Neurotherapeutics. 2014 Oct;11(4):796-806. doi: 10.1007/s13311-014-0301-2. Review.

17.

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.

18.

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; Simons Variation in Individuals Project Consortium.

Biol Psychiatry. 2015 May 1;77(9):785-93. doi: 10.1016/j.biopsych.2014.04.021. Epub 2014 Jun 16.

PMID:
25064419
19.

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

PMID:
24838796
20.

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.

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