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Items: 1 to 20 of 584

1.

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.

Woodbury-Smith M, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe JL, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari P, Scherer SW.

Mol Autism. 2017 Nov 9;8:59. doi: 10.1186/s13229-017-0175-3. eCollection 2017.

2.

Genomic Programming of Human Neonatal Dendritic Cells in Congenital Systemic and In Vitro Cytomegalovirus Infection Reveal Plastic and Robust Immune Pathway Biology Responses.

Dantoft W, Martínez-Vicente P, Jafali J, Pérez-Martínez L, Martin K, Kotzamanis K, Craigon M, Auer M, Young NT, Walsh P, Marchant A, Angulo A, Forster T, Ghazal P.

Front Immunol. 2017 Sep 25;8:1146. doi: 10.3389/fimmu.2017.01146. eCollection 2017.

3.

Clinical interpretation of copy number variants in the human genome.

Nowakowska B.

J Appl Genet. 2017 Nov;58(4):449-457. doi: 10.1007/s13353-017-0407-4. Epub 2017 Sep 30. Review.

4.

Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.

Hnoonual A, Thammachote W, Tim-Aroon T, Rojnueangnit K, Hansakunachai T, Sombuntham T, Roongpraiwan R, Worachotekamjorn J, Chuthapisith J, Fucharoen S, Wattanasirichaigoon D, Ruangdaraganon N, Limprasert P, Jinawath N.

Sci Rep. 2017 Sep 21;7(1):12096. doi: 10.1038/s41598-017-12317-3.

5.

Identification of novel candidate disease genes from de novo exonic copy number variants.

Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P.

Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7.

6.

High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.

Chen CH, Chen HI, Chien WH, Li LH, Wu YY, Chiu YN, Tsai WC, Gau SS.

Sci Rep. 2017 Sep 20;7(1):11919. doi: 10.1038/s41598-017-12081-4.

7.

The DLGAP family: neuronal expression, function and role in brain disorders.

Rasmussen AH, Rasmussen HB, Silahtaroglu A.

Mol Brain. 2017 Sep 4;10(1):43. doi: 10.1186/s13041-017-0324-9. Review.

8.

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.

Krupp DR, Barnard RA, Duffourd Y, Evans SA, Mulqueen RM, Bernier R, Rivière JB, Fombonne E, O'Roak BJ.

Am J Hum Genet. 2017 Sep 7;101(3):369-390. doi: 10.1016/j.ajhg.2017.07.016. Epub 2017 Aug 31.

PMID:
28867142
9.

Shared atypical default mode and salience network functional connectivity between autism and schizophrenia.

Chen H, Uddin LQ, Duan X, Zheng J, Long Z, Zhang Y, Guo X, Zhang Y, Zhao J, Chen H.

Autism Res. 2017 Nov;10(11):1776-1786. doi: 10.1002/aur.1834. Epub 2017 Jul 21.

PMID:
28730732
10.

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.

Al-Mubarak B, Abouelhoda M, Omar A, AlDhalaan H, Aldosari M, Nester M, Alshamrani HA, El-Kalioby M, Goljan E, Albar R, Subhani S, Tahir A, Asfahani S, Eskandrani A, Almusaiab A, Magrashi A, Shinwari J, Monies D, Al Tassan N.

Sci Rep. 2017 Jul 18;7(1):5679. doi: 10.1038/s41598-017-06033-1.

11.

Strength of functional signature correlates with effect size in autism.

Ballouz S, Gillis J.

Genome Med. 2017 Jul 7;9(1):64. doi: 10.1186/s13073-017-0455-8.

12.

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.

Mak ASL, Chiu ATG, Leung GKC, Mak CCY, Chu YWY, Mok GTK, Tang WF, Chan KYK, Tang MHY, Lau Yim ET, So KW, Tao VQ, Fung CW, Wong VCN, Uddin M, Lee SL, Marshall CR, Scherer SW, Kan ASY, Chung BHY.

Mol Autism. 2017 Jun 26;8:31. doi: 10.1186/s13229-017-0136-x. eCollection 2017.

13.

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes.

Woodbury-Smith M, Nicolson R, Zarrei M, Yuen RKC, Walker S, Howe J, Uddin M, Hoang N, Buchanan JA, Chrysler C, Thompson A, Szatmari P, Scherer SW.

NPJ Genom Med. 2017 May 3;2. pii: 17. doi: 10.1038/s41525-017-0020-9.

14.

Regulation of neural circuit formation by protocadherins.

Peek SL, Mah KM, Weiner JA.

Cell Mol Life Sci. 2017 Nov;74(22):4133-4157. doi: 10.1007/s00018-017-2572-3. Epub 2017 Jun 19. Review.

PMID:
28631008
15.

Genetic Approaches to Understanding Psychiatric Disease.

Michaelson JJ.

Neurotherapeutics. 2017 Jul;14(3):564-581. doi: 10.1007/s13311-017-0551-x. Review.

PMID:
28608171
16.

Impact of Dendrimers on Solubility of Hydrophobic Drug Molecules.

Choudhary S, Gupta L, Rani S, Dave K, Gupta U.

Front Pharmacol. 2017 May 16;8:261. doi: 10.3389/fphar.2017.00261. eCollection 2017. Review.

17.

Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population.

Vojinovic D, Brison N, Ahmad S, Noens I, Pappa I, Karssen LC, Tiemeier H, van Duijn CM, Peeters H, Amin N.

Eur J Hum Genet. 2017 Aug;25(8):982-987. doi: 10.1038/ejhg.2017.82. Epub 2017 May 17.

PMID:
28513607
18.

De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.

Sagar A, Pinto D, Najjar F, Guter SJ, Macmillan C, Cook EH.

Am J Med Genet A. 2017 Jun;173(6):1656-1662. doi: 10.1002/ajmg.a.38171. Epub 2017 Apr 13.

PMID:
28407363
19.

Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications.

Ghasemi Firouzabadi S, Vameghi R, Kariminejad R, Darvish H, Banihashemi S, Firouzkouhi Moghaddam M, Jamali P, Farbod Mofidi Tehrani H, Dehghani H, Raeisoon MR, Narooie-Nejad M, Jamshidi J, Tafakhori A, Sadabadi S, Behjati F.

Int J Mol Cell Med. 2016 Fall;5(4):236-245. Epub 2016 Dec 5.

20.

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.

Hensel C, Vanzo R, Martin M, Dixon S, Lambert C, Levy B, Nelson L, Peiffer A, Ho KS, Rushton P, Serrano M, South S, Ward K, Wassman E.

PLoS Curr. 2017 Feb 27;9. pii: ecurrents.eogt.7d92ce775800ef3fbc72e3840fb1bc22. doi: 10.1371/currents.eogt.7d92ce775800ef3fbc72e3840fb1bc22.

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