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Results: 1 to 20 of 38

1.

The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.

Shashi V, Xie P, Schoch K, Goldstein DB, Howard TD, Berry MN, Schwartz CE, Cronin K, Sliwa S, Allen A, Need AC.

Clin Genet. 2014 Sep 26. doi: 10.1111/cge.12511. [Epub ahead of print]

PMID:
25256757
[PubMed - as supplied by publisher]
2.

Schizophrenia genetics comes of age.

Need AC, Goldstein DB.

Neuron. 2014 Aug 20;83(4):760-3. doi: 10.1016/j.neuron.2014.08.015.

PMID:
25144873
[PubMed - indexed for MEDLINE]
3.

Where now for schizophrenia research?

Nutt DJ, Need AC.

Eur Neuropsychopharmacol. 2014 Aug;24(8):1181-7. doi: 10.1016/j.euroneuro.2014.05.012. Epub 2014 May 28.

PMID:
24950818
[PubMed - in process]
Free Article
4.

One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.

Zhu X, Need AC, Petrovski S, Goldstein DB.

Nat Neurosci. 2014 Jun;17(6):773-81. doi: 10.1038/nn.3713. Epub 2014 May 27. Review.

PMID:
24866043
[PubMed - indexed for MEDLINE]
5.

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB.

Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20.

PMID:
24651605
[PubMed - in process]
Free PMC Article
6.

Exome sequence analysis of Finnish patients with clozapine-induced agranulocytosis.

Tiwari AK, Need AC, Lohoff FW, Zai CC, Chowdhury NI, Müller DJ, Putkonen A, Repo-Tiihonen E, Hallikainen T, Yağcıoğlu AE, Tiihonen J, Kennedy JL, Meltzer HY.

Mol Psychiatry. 2014 Apr;19(4):403-5. doi: 10.1038/mp.2013.74. Epub 2013 Jun 11. No abstract available.

PMID:
23752246
[PubMed - indexed for MEDLINE]
7.

A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with "traditional" neuropsychological testing instruments.

Smith PJ, Need AC, Cirulli ET, Chiba-Falek O, Attix DK.

J Clin Exp Neuropsychol. 2013;35(3):319-28. doi: 10.1080/13803395.2013.771618. Epub 2013 Feb 27.

PMID:
23444947
[PubMed - indexed for MEDLINE]
8.

Using ERDS to infer copy-number variants in high-coverage genomes.

Zhu M, Need AC, Han Y, Ge D, Maia JM, Zhu Q, Heinzen EL, Cirulli ET, Pelak K, He M, Ruzzo EK, Gumbs C, Singh A, Feng S, Shianna KV, Goldstein DB.

Am J Hum Genet. 2012 Sep 7;91(3):408-21. doi: 10.1016/j.ajhg.2012.07.004. Epub 2012 Aug 30.

PMID:
22939633
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.

Need AC, McEvoy JP, Gennarelli M, Heinzen EL, Ge D, Maia JM, Shianna KV, He M, Cirulli ET, Gumbs CE, Zhao Q, Campbell CR, Hong L, Rosenquist P, Putkonen A, Hallikainen T, Repo-Tiihonen E, Tiihonen J, Levy DL, Meltzer HY, Goldstein DB.

Am J Hum Genet. 2012 Aug 10;91(2):303-12. doi: 10.1016/j.ajhg.2012.06.018. Epub 2012 Aug 2.

PMID:
22863191
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.

Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, Shianna KV, McCormack M, Radtke RA, O'Conner GD, Mikati MA, Gallentine WB, Husain AM, Sinha SR, Chinthapalli K, Puranam RS, McNamara JO, Ottman R, Sisodiya SM, Delanty N, Goldstein DB.

Am J Hum Genet. 2012 Aug 10;91(2):293-302. doi: 10.1016/j.ajhg.2012.06.016. Epub 2012 Aug 2.

PMID:
22863189
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Clinical application of exome sequencing in undiagnosed genetic conditions.

Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB.

J Med Genet. 2012 Jun;49(6):353-61. doi: 10.1136/jmedgenet-2012-100819. Epub 2012 May 11.

PMID:
22581936
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Copy number variation of KIR genes influences HIV-1 control.

Pelak K, Need AC, Fellay J, Shianna KV, Feng S, Urban TJ, Ge D, De Luca A, Martinez-Picado J, Wolinsky SM, Martinson JJ, Jamieson BD, Bream JH, Martin MP, Borrow P, Letvin NL, McMichael AJ, Haynes BF, Telenti A, Carrington M, Goldstein DB, Alter G; NIAID Center for HIV/AIDS Vaccine Immunology.

PLoS Biol. 2011 Nov;9(11):e1001208. doi: 10.1371/journal.pbio.1001208. Epub 2011 Nov 29. Erratum in: PLoS Biol. 2011 Dec;9(12). doi:10.1371/annotation/7e17b146-a69c-4e83-9230-7340486d9dc8.

PMID:
22140359
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

SVA: software for annotating and visualizing sequenced human genomes.

Ge D, Ruzzo EK, Shianna KV, He M, Pelak K, Heinzen EL, Need AC, Cirulli ET, Maia JM, Dickson SP, Zhu M, Singh A, Allen AS, Goldstein DB.

Bioinformatics. 2011 Jul 15;27(14):1998-2000. doi: 10.1093/bioinformatics/btr317. Epub 2011 May 29.

PMID:
21624899
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Brain-derived neurotrophic factor val66met polymorphism and hippocampal activation during episodic encoding and retrieval tasks.

Dennis NA, Cabeza R, Need AC, Waters-Metenier S, Goldstein DB, LaBar KS.

Hippocampus. 2011 Sep;21(9):980-9. doi: 10.1002/hipo.20809. Epub 2010 May 20.

PMID:
20865733
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The characterization of twenty sequenced human genomes.

Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, Cirulli ET, Fellay J, Dickson SP, Gumbs CE, Heinzen EL, Need AC, Ruzzo EK, Singh A, Campbell CR, Hong LK, Lornsen KA, McKenzie AM, Sobreira NL, Hoover-Fong JE, Milner JD, Ottman R, Haynes BF, Goedert JJ, Goldstein DB.

PLoS Genet. 2010 Sep 9;6(9):e1001111. doi: 10.1371/journal.pgen.1001111.

PMID:
20838461
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.

Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperaviciūte D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kälviäinen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB.

Am J Hum Genet. 2010 May 14;86(5):707-18. doi: 10.1016/j.ajhg.2010.03.018. Epub 2010 Apr 15.

PMID:
20398883
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Whole genome association studies in complex diseases: where do we stand?

Need AC, Goldstein DB.

Dialogues Clin Neurosci. 2010;12(1):37-46. Review.

PMID:
20373665
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Common genetic variation and performance on standardized cognitive tests.

Cirulli ET, Kasperaviciūte D, Attix DK, Need AC, Ge D, Gibson G, Goldstein DB.

Eur J Hum Genet. 2010 Jul;18(7):815-20. doi: 10.1038/ejhg.2010.2. Epub 2010 Feb 3. Erratum in: Eur J Hum Genet. 2010 Jul;18(7):820.

PMID:
20125193
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Genome-wide scan of copy number variation in late-onset Alzheimer's disease.

Heinzen EL, Need AC, Hayden KM, Chiba-Falek O, Roses AD, Strittmatter WJ, Burke JR, Hulette CM, Welsh-Bohmer KA, Goldstein DB.

J Alzheimers Dis. 2010;19(1):69-77. doi: 10.3233/JAD-2010-1212.

PMID:
20061627
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Next generation disparities in human genomics: concerns and remedies.

Need AC, Goldstein DB.

Trends Genet. 2009 Nov;25(11):489-94. doi: 10.1016/j.tig.2009.09.012.

PMID:
19836853
[PubMed - indexed for MEDLINE]

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