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Items: 1 to 50 of 124

1.

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Taylor JL, Clinard K, Powell CM, Rehder C, Young SP, Bali D, Beckloff SE, Gehtland LM, Kemper AR, Lee S, Millington D, Patel HS, Shone SM, Woodell C, Zimmerman SJ, Bailey DB Jr, Muenzer J.

J Pediatr. 2019 May 24. pii: S0022-3476(19)30509-8. doi: 10.1016/j.jpeds.2019.04.027. [Epub ahead of print]

PMID:
31133280
2.

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.

Milko LV, O'Daniel JM, DeCristo DM, Crowley SB, Foreman AKM, Wallace KE, Mollison LF, Strande NT, Girnary ZS, Boshe LJ, Aylsworth AS, Gucsavas-Calikoglu M, Frazier DM, Vora NL, Roche MI, Powell BC, Powell CM, Berg JS.

J Pediatr. 2019 Jun;209:68-76. doi: 10.1016/j.jpeds.2018.12.027. Epub 2019 Mar 7.

PMID:
30851990
3.

What is Newborn Screening?

Powell CM.

N C Med J. 2019 Jan-Feb;80(1):32-36. doi: 10.18043/ncm.80.1.32.

4.

A behavior-theoretic evaluation of values clarification on parental beliefs and intentions toward genomic sequencing for newborns.

Paquin RS, Peinado S, Lewis MA, Biesecker BB, Rini C, Roche M, Butterfield RM, Powell CM, Berg JS, Bailey DB Jr.

Soc Sci Med. 2018 Nov 9. pii: S0277-9536(18)30651-8. doi: 10.1016/j.socscimed.2018.11.017. [Epub ahead of print]

PMID:
30448267
5.

Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.

Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M; Developmental Synaptopathies Consortium.

Pediatr Neurol. 2019 Jan;90:37-43. doi: 10.1016/j.pediatrneurol.2018.09.008. Epub 2018 Sep 21.

PMID:
30396833
6.

What Genomic Sequencing Can Offer Universal Newborn Screening Programs.

Powell CM.

Hastings Cent Rep. 2018 Jul;48 Suppl 2:S18-S19. doi: 10.1002/hast.878.

PMID:
30133725
7.

Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.

Milko LV, Rini C, Lewis MA, Butterfield RM, Lin FC, Paquin RS, Powell BC, Roche MI, Souris KJ, Bailey DB Jr, Berg JS, Powell CM.

Trials. 2018 Jun 28;19(1):344. doi: 10.1186/s13063-018-2686-4.

8.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK.

Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13.

PMID:
29436146
9.

Use of an iPad™ application in preoperative counseling for pelvic reconstructive surgery: a randomized trial.

Kinman CL, Meriwether KV, Powell CM, Hobson DTG, Gaskins JT, Francis SL.

Int Urogynecol J. 2018 Sep;29(9):1289-1295. doi: 10.1007/s00192-017-3513-2. Epub 2017 Nov 22.

PMID:
29167975
10.

Kctd13 deletion reduces synaptic transmission via increased RhoA.

Escamilla CO, Filonova I, Walker AK, Xuan ZX, Holehonnur R, Espinosa F, Liu S, Thyme SB, López-García IA, Mendoza DB, Usui N, Ellegood J, Eisch AJ, Konopka G, Lerch JP, Schier AF, Speed HE, Powell CM.

Nature. 2017 Nov 9;551(7679):227-231. doi: 10.1038/nature24470. Epub 2017 Nov 1.

11.

Genetic background effects in Neuroligin-3 mutant mice: Minimal behavioral abnormalities on C57 background.

Jaramillo TC, Escamilla CO, Liu S, Peca L, Birnbaum SG, Powell CM.

Autism Res. 2018 Feb;11(2):234-244. doi: 10.1002/aur.1857. Epub 2017 Oct 13.

12.

Foxp1 in Forebrain Pyramidal Neurons Controls Gene Expression Required for Spatial Learning and Synaptic Plasticity.

Araujo DJ, Toriumi K, Escamilla CO, Kulkarni A, Anderson AG, Harper M, Usui N, Ellegood J, Lerch JP, Birnbaum SG, Tucker HO, Powell CM, Konopka G.

J Neurosci. 2017 Nov 8;37(45):10917-10931. doi: 10.1523/JNEUROSCI.1005-17.2017. Epub 2017 Oct 4.

13.

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

Powell CM.

Nature. 2017 Sep 28;549(7673):466-467. doi: 10.1038/nature24139. Epub 2017 Sep 13. No abstract available. Erratum in: Nature. 2017 Oct 11;550(7675):198.

PMID:
28902837
14.

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, Henkelman RM, Lerch JP.

Neuroimage. 2017 Dec;163:220-230. doi: 10.1016/j.neuroimage.2017.08.065. Epub 2017 Sep 4.

PMID:
28882630
15.

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.

16.

Bone health and SATB2-associated syndrome.

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

Clin Genet. 2018 Mar;93(3):588-594. doi: 10.1111/cge.13121. Epub 2017 Dec 27.

PMID:
28787087
17.

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. 2018 Feb;20(2):181-189. doi: 10.1038/gim.2017.93. Epub 2017 Aug 3.

18.

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
19.

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.

20.

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
21.

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 Nov;19(11):1207-1216. doi: 10.1038/gim.2017.33. Epub 2017 May 18.

22.

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
23.

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.

24.

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. Erratum in: Genet Med. 2017 Apr;19(4):483.

PMID:
27854359
25.

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.

26.

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.

27.

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.

28.

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.

29.

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.

30.

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.

31.

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.

32.

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.

33.

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.

Berg JS, Foreman AK, O'Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP.

Genet Med. 2016 May;18(5):467-75. doi: 10.1038/gim.2015.104. Epub 2015 Aug 13.

34.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L.

Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21.

35.

Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.

Bailey DB Jr, Wheeler A, Berry-Kravis E, Hagerman R, Tassone F, Powell CM, Roche M, Gane LW, Sideris J.

Pediatrics. 2015 Aug;136(2):e433-40. doi: 10.1542/peds.2015-0414. Epub 2015 Jul 13.

36.

Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits.

Speed HE, Kouser M, Xuan Z, Reimers JM, Ochoa CF, Gupta N, Liu S, Powell CM.

J Neurosci. 2015 Jul 1;35(26):9648-65. doi: 10.1523/JNEUROSCI.3125-14.2015.

37.

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

Couser NL, Masood MM, Strande NT, Foreman AK, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM.

Am J Med Genet A. 2015 Sep;167A(9):2176-81. doi: 10.1002/ajmg.a.37129. Epub 2015 Apr 29.

38.

Chronic P7C3 treatment restores hippocampal neurogenesis in the Ts65Dn mouse model of Down Syndrome [Corrected].

Latchney SE, Jaramillo TC, Rivera PD, Eisch AJ, Powell CM.

Neurosci Lett. 2015 Mar 30;591:86-92. doi: 10.1016/j.neulet.2015.02.008. Epub 2015 Feb 7. Erratum in: Neurosci Lett. 2015 Jun 15;597():25.

39.

3D visualization of the regional differences.

Ellegood J, Anagnostou E, Babineau BA, Crawley JN, Lin L, Genestine M, DiCicco-Bloom E, Lai JK, Foster JA, Peñagarikano O, Geschwind DH, Pacey LK, Hampson DR, Laliberté CL, Mills AA, Tam E, Osborne LR, Kouser M, Espinosa-Becerra F, Xuan Z, Powell CM, Raznahan A, Robins DM, Nakai N, Nakatani J, Takumi T, van Eede MC, Kerr TM, Muller C, Blakely RD, Veenstra-VanderWeele J, Henkelman RM, Lerch JP.

Mol Psychiatry. 2015 Feb;20(1):1. doi: 10.1038/mp.2014.168. No abstract available.

40.

Internal extracellular bacteria of Diaphorina citri Kuwayama (Hemiptera: Psyllidae), the Asian citrus psyllid.

Kolora LD, Powell CM, Hunter W, Bextine B, Lauzon CR.

Curr Microbiol. 2015 May;70(5):710-5. doi: 10.1007/s00284-015-0774-1. Epub 2015 Feb 3.

PMID:
25645736
41.

Bacterial community composition of three candidate insect vectors of palm phytoplasma (Texas Phoenix Palm Decline and Lethal Yellowing).

Powell CM, Hail D, Potocnjak J, Hanson JD, Halbert SH, Bextine BR.

Curr Microbiol. 2015 Feb;70(2):240-5. doi: 10.1007/s00284-014-0709-2. Epub 2014 Oct 9.

PMID:
25298076
42.

Propagation of Homalodisca coagulata virus-01 via Homalodisca vitripennis cell culture.

Biesbrock AM, Powell CM, Hunter WB, Bextine BR.

J Vis Exp. 2014 Sep 25;(91):51953. doi: 10.3791/51953.

43.

Genetics of hemangiomas, vascular malformations, and primary lymphedema.

Blatt J, Powell CM, Burkhart CN, Stavas J, Aylsworth AS.

J Pediatr Hematol Oncol. 2014 Nov;36(8):587-93. doi: 10.1097/MPH.0000000000000260. Review.

PMID:
25222064
44.

Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity.

Ellegood J, Anagnostou E, Babineau BA, Crawley JN, Lin L, Genestine M, DiCicco-Bloom E, Lai JK, Foster JA, Peñagarikano O, Geschwind DH, Pacey LK, Hampson DR, Laliberté CL, Mills AA, Tam E, Osborne LR, Kouser M, Espinosa-Becerra F, Xuan Z, Powell CM, Raznahan A, Robins DM, Nakai N, Nakatani J, Takumi T, van Eede MC, Kerr TM, Muller C, Blakely RD, Veenstra-VanderWeele J, Henkelman RM, Lerch JP.

Mol Psychiatry. 2015 Feb;20(1):118-25. doi: 10.1038/mp.2014.98. Epub 2014 Sep 9.

45.

Bacterial community survey of Solenopsis invicta Buren (red imported fire ant) colonies in the presence and absence of Solenopsis invicta virus (SINV).

Powell CM, Hanson JD, Bextine BR.

Curr Microbiol. 2014 Oct;69(4):580-5. doi: 10.1007/s00284-014-0626-4. Epub 2014 Jun 17.

PMID:
24934994
46.

Autism-related neuroligin-3 mutation alters social behavior and spatial learning.

Jaramillo TC, Liu S, Pettersen A, Birnbaum SG, Powell CM.

Autism Res. 2014 Apr;7(2):264-72. doi: 10.1002/aur.1362. Epub 2014 Mar 11.

47.

Developmental and adult GAP-43 deficiency in mice dynamically alters hippocampal neurogenesis and mossy fiber volume.

Latchney SE, Masiulis I, Zaccaria KJ, Lagace DC, Powell CM, McCasland JS, Eisch AJ.

Dev Neurosci. 2014;36(1):44-63. doi: 10.1159/000357840. Epub 2014 Feb 26.

48.

PTEN knockdown alters dendritic spine/protrusion morphology, not density.

Haws ME, Jaramillo TC, Espinosa F, Widman AJ, Stuber GD, Sparta DR, Tye KM, Russo SJ, Parada LF, Stavarache M, Kaplitt M, Bonci A, Powell CM.

J Comp Neurol. 2014 Apr 1;522(5):1171-90. doi: 10.1002/cne.23488.

49.

Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission.

Kouser M, Speed HE, Dewey CM, Reimers JM, Widman AJ, Gupta N, Liu S, Jaramillo TC, Bangash M, Xiao B, Worley PF, Powell CM.

J Neurosci. 2013 Nov 20;33(47):18448-68. doi: 10.1523/JNEUROSCI.3017-13.2013.

50.

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome.

Lindhurst MJ, Wang JA, Bloomhardt HM, Witkowski AM, Singh LN, Bick DP, Gambello MJ, Powell CM, Lee CR, Darling TN, Biesecker LG.

J Invest Dermatol. 2014 Feb;134(2):543-546. doi: 10.1038/jid.2013.312. Epub 2013 Jul 24. No abstract available.

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