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Items: 1 to 20 of 113

1.

Neuroscience: Mum's bacteria linked to baby's behaviour.

Powell CM.

Nature. 2017 Sep 13. doi: 10.1038/nature24139. [Epub ahead of print] No abstract available.

PMID:
28902837
2.

Spatial gene expression analysis of neuroanatomical differences in mouse models.

Fernandes DJ, Ellegood J, Askalan R, Blakely RD, Dicicco-Bloom E, Egan SE, Osborne LR, Powell CM, Raznahan A, Robins DM, Salter MW, Sengar AS, Veenstra-VanderWeele J, Lerch JP.

Neuroimage. 2017 Sep 4. pii: S1053-8119(17)30721-8. doi: 10.1016/j.neuroimage.2017.08.065. [Epub ahead of print]

PMID:
28882630
3.

Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.

Bailey DB Jr, Berry-Kravis E, Gane LW, Guarda S, Hagerman R, Powell CM, Tassone F, Wheeler A.

Pediatrics. 2017 Jun;139(Suppl 3):S216-S225. doi: 10.1542/peds.2016-1159H.

PMID:
28814542
4.

Bone health and SATB2-associated syndrome.

Zarate YA, Steinraths M, Matthews A, Smith W, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman W, Van Karnebeek C, Wakeling EL, Ma NS.

Clin Genet. 2017 Aug 8. doi: 10.1111/cge.13121. [Epub ahead of print]

PMID:
28787087
5.

Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment.

Lewis MA, Stine A, Paquin RS, Mansfield C, Wood D, Rini C, Roche MI, Powell CM, Berg JS, Bailey DB Jr.

Genet Med. 2017 Aug 3. doi: 10.1038/gim.2017.93. [Epub ahead of print]

PMID:
28771249
6.

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

Couser NL, Marchuk DS, Smith LD, Arreola A, Kaiser-Rogers KA, Muenzer J, Pandya A, Gucsavas-Calikoglu M, Powell CM.

Am J Med Genet A. 2017 Oct;173(10):2720-2724. doi: 10.1002/ajmg.a.38351. Epub 2017 Jul 27.

PMID:
28749033
7.

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment.

Celen C, Chuang JC, Luo X, Nijem N, Walker AK, Chen F, Zhang S, Chung AS, Nguyen LH, Nassour I, Budhipramono A, Sun X, Bok LA, McEntagart M, Gevers EF, Birnbaum SG, Eisch AJ, Powell CM, Ge WP, Santen GW, Chahrour M, Zhu H.

Elife. 2017 Jul 11;6. pii: e25730. doi: 10.7554/eLife.25730.

8.

Laquinimod has no effects on brain volume or cellular CNS composition in the F1 3xTg-AD/C3H mouse model of Alzheimer's disease.

Hussain RZ, Miller-Little WA, Lambracht-Washington D, Jaramillo TC, Takahashi M, Zhang S, Fu M, Cutter GR, Hayardeny L, Powell CM, Rosenberg RN, Stüve O.

J Neuroimmunol. 2017 Aug 15;309:100-110. doi: 10.1016/j.jneuroim.2017.05.017. Epub 2017 May 26.

PMID:
28601278
9.

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.

Vora NL, Powell B, Brandt A, Strande N, Hardisty E, Gilmore K, Foreman AKM, Wilhelmsen K, Bizon C, Reilly J, Owen P, Powell CM, Skinner D, Rini C, Lyerly AD, Boggess KA, Weck K, Berg JS, Evans JP.

Genet Med. 2017 May 18. doi: 10.1038/gim.2017.33. [Epub ahead of print]

PMID:
28518170
10.

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.

Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM.

Am J Med Genet A. 2017 Apr;173(4):1097-1101. doi: 10.1002/ajmg.a.38141. Epub 2017 Feb 9.

PMID:
28181399
11.

Newborn Sequencing in Genomic Medicine and Public Health.

Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL.

Pediatrics. 2017 Feb;139(2). pii: e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.

PMID:
28096516
12.

Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.

Bieber FR, Cherry AM, Emanuel BS, Francke U, Hoyme HE, Jackson LG, Morton CC, Muenke M, Powell CM, Punnett HH, Rao PN, Schwartz S, Stevenson RE, Van Dyke DL.

Genet Med. 2017 Mar;19(3):294-296. doi: 10.1038/gim.2016.171. Epub 2016 Nov 17.

PMID:
27854359
13.

Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function.

Jaramillo TC, Speed HE, Xuan Z, Reimers JM, Escamilla CO, Weaver TP, Liu S, Filonova I, Powell CM.

Autism Res. 2017 Jan;10(1):42-65. doi: 10.1002/aur.1664. Epub 2016 Aug 5.

PMID:
27492494
14.

Autism Screening or Smoke Screen and Mirrors?

Powell CM.

JAMA Neurol. 2016 Apr;73(4):386-7. doi: 10.1001/jamaneurol.2016.0126. No abstract available.

15.

Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The NC NEXUS Decision Aid.

Lewis MA, Paquin RS, Roche MI, Furberg RD, Rini C, Berg JS, Powell CM, Bailey DB Jr.

Pediatrics. 2016 Jan;137 Suppl 1:S16-23. doi: 10.1542/peds.2015-3731E.

16.

Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.

Meyer RE, Liu G, Gilboa SM, Ethen MK, Aylsworth AS, Powell CM, Flood TJ, Mai CT, Wang Y, Canfield MA; National Birth Defects Prevention Network.

Am J Med Genet A. 2016 Apr;170A(4):825-37. doi: 10.1002/ajmg.a.37495. Epub 2015 Dec 10.

17.

Altered Striatal Synaptic Function and Abnormal Behaviour in Shank3 Exon4-9 Deletion Mouse Model of Autism.

Jaramillo TC, Speed HE, Xuan Z, Reimers JM, Liu S, Powell CM.

Autism Res. 2016 Mar;9(3):350-75. doi: 10.1002/aur.1529. Epub 2015 Nov 11.

18.

Increased Cortical Inhibition in Autism-Linked Neuroligin-3R451C Mice Is Due in Part to Loss of Endocannabinoid Signaling.

Speed HE, Masiulis I, Gibson JR, Powell CM.

PLoS One. 2015 Oct 15;10(10):e0140638. doi: 10.1371/journal.pone.0140638. eCollection 2015.

19.

Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening.

Berg JS, Powell CM.

Cold Spring Harb Perspect Med. 2015 Oct 5;5(12). pii: a023150. doi: 10.1101/cshperspect.a023150. Review.

PMID:
26438605
20.

Neuroligin 1 modulates striatal glutamatergic neurotransmission in a pathway and NMDAR subunit-specific manner.

Espinosa F, Xuan Z, Liu S, Powell CM.

Front Synaptic Neurosci. 2015 Jul 29;7:11. doi: 10.3389/fnsyn.2015.00011. eCollection 2015.

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