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Items: 1 to 50 of 303

1.

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.

Jimenez-Gomez A, Niu S, Andujar-Perez F, McQuade EA, Balasa A, Huss D, Coorg R, Quach M, Vinson S, Risen S, Holder JL Jr.

J Neurodev Disord. 2019 Aug 8;11(1):18. doi: 10.1186/s11689-019-9276-y.

2.

Outcomes of Serial Multiparametric Magnetic Resonance Imaging and Subsequent Biopsy in Men with Low-risk Prostate Cancer Managed with Active Surveillance.

Hsiang W, Ghabili K, Syed JS, Holder J, Nguyen KA, Suarez-Sarmiento A, Huber S, Leapman MS, Sprenkle PC.

Eur Urol Focus. 2019 May 27. pii: S2405-4569(19)30148-8. doi: 10.1016/j.euf.2019.05.011. [Epub ahead of print]

PMID:
31147263
3.

Intracochlear Electrocochleography: Influence of Scalar Position of the Cochlear Implant Electrode on Postinsertion Results.

Riggs WJ, Dwyer RT, Holder JT, Mattingly JK, Ortmann A, Noble JH, Dawant BM, Valenzuela CV, O'Connell BP, Harris MS, Litvak LM, Koka K, Buchman CA, Labadie RF, Adunka OF.

Otol Neurotol. 2019 Jun;40(5):e503-e510. doi: 10.1097/MAO.0000000000002202.

PMID:
31083085
4.

Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior.

Creson TK, Rojas C, Hwaun E, Vaissiere T, Kilinc M, Jimenez-Gomez A, Holder JL Jr, Tang J, Colgin LL, Miller CA, Rumbaugh G.

Elife. 2019 Apr 26;8. pii: e46752. doi: 10.7554/eLife.46752.

5.

Erratum: "Image-plate sensitivity to x rays at 2 to 60 keV" [Rev. Sci. Instrum. 90, 013506 (2019)].

Rosenberg MJ, Thorn DB, Izumi N, Williams D, Rowland M, Torres G, Haugh M, Hillyard P, Adelman N, Schuler T, Barrios MA, Holder JP, Schneider MB, Fournier KB, Bradley DK, Regan SP.

Rev Sci Instrum. 2019 Feb;90(2):029902. doi: 10.1063/1.5092602. No abstract available.

PMID:
30831772
6.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Erratum in: Genome Med. 2019 Mar 25;11(1):16.

7.

SYNGAP1-Related Intellectual Disability.

Holder JL Jr, Hamdan FF, Michaud JL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 Feb 21.

8.

[Precision medicine in oncology: Challenges, stakes and new paradigms].

Cox S, Rousseau-Tsangaris M, Abou-Zeid N, Dalle S, Leurent P, Cutivet A, Le HH, Kotb S, Bogaert B, Gardette R, Baran Y, Holder JM, Lerner L, Blay JY, Cambrosio A, Tredan O, Denèfle P.

Bull Cancer. 2019 Feb;106(2):97-104. doi: 10.1016/j.bulcan.2019.01.007. Epub 2019 Feb 1. French. No abstract available.

PMID:
30713005
9.

Image-plate sensitivity to x rays at 2 to 60 keV.

Rosenberg MJ, Thorn DB, Izumi N, Williams D, Rowland M, Torres G, Haugh M, Hillyard P, Adelman N, Schuler T, Barrios MA, Holder JP, Schneider MB, Fournier KB, Bradley DK, Regan SP.

Rev Sci Instrum. 2019 Jan;90(1):013506. doi: 10.1063/1.5053592. Erratum in: Rev Sci Instrum. 2019 Feb;90(2):029902.

PMID:
30709229
10.

A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability.

Wang L, Adamski CJ, Bondar VV, Craigen E, Collette JR, Pang K, Han K, Jain A, Y Jung S, Liu Z, Sifers RN, Holder JL Jr, Zoghbi HY.

Mol Psychiatry. 2019 Jan 29. doi: 10.1038/s41380-018-0325-9. [Epub ahead of print]

11.

MAD1-dependent recruitment of CDK1-CCNB1 to kinetochores promotes spindle checkpoint signaling.

Alfonso-Pérez T, Hayward D, Holder J, Gruneberg U, Barr FA.

J Cell Biol. 2019 Apr 1;218(4):1108-1117. doi: 10.1083/jcb.201808015. Epub 2019 Jan 23.

12.

CDK1-CCNB1 creates a spindle checkpoint-permissive state by enabling MPS1 kinetochore localization.

Hayward D, Alfonso-Pérez T, Cundell MJ, Hopkins M, Holder J, Bancroft J, Hutter LH, Novak B, Barr FA, Gruneberg U.

J Cell Biol. 2019 Apr 1;218(4):1182-1199. doi: 10.1083/jcb.201808014. Epub 2019 Jan 23.

13.

A Multicatalytic Approach to the Hydroaminomethylation of α-Olefins.

Hanna S, Holder JC, Hartwig JF.

Angew Chem Int Ed Engl. 2019 Mar 11;58(11):3368-3372. doi: 10.1002/anie.201811297. Epub 2019 Feb 15.

PMID:
30635956
14.

An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function.

Wang L, Pang K, Han K, Adamski CJ, Wang W, He L, Lai JK, Bondar VV, Duman JG, Richman R, Tolias KF, Barth P, Palzkill T, Liu Z, Holder JL Jr, Zoghbi HY.

Mol Psychiatry. 2019 Jan 4. doi: 10.1038/s41380-018-0324-x. [Epub ahead of print]

15.

SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.

Michaelson SD, Ozkan ED, Aceti M, Maity S, Llamosas N, Weldon M, Mizrachi E, Vaissiere T, Gaffield MA, Christie JM, Holder JL Jr, Miller CA, Rumbaugh G.

Nat Neurosci. 2018 Dec;21(12):1-13. doi: 10.1038/s41593-018-0268-0. Epub 2018 Nov 21.

16.

Facial Nerve Stimulation Patterns Associated With Cochlear Implantation in Labyrinthitis Ossificans.

Nassiri AM, Yawn RJ, Dedmon MM, O'Connell BP, Holder JT, Haynes DS, Rivas A.

Otol Neurotol. 2018 Dec;39(10):e992-e995. doi: 10.1097/MAO.0000000000002028.

PMID:
30444844
17.

On the system stability and calibration of the image plate/scanner system for plasma diagnosis at the National Ignition Facility.

Holder JP, Izumi N, Beach M, Ayers MJ, Bell P, Schneider M, Bradley DK, Kohut T, Ehrlich R, Cohen M, Ramirez R, Thorn D.

Rev Sci Instrum. 2018 Oct;89(10):10F123. doi: 10.1063/1.5039363.

PMID:
30399981
18.

Investigating the relationship between noise transfer inside the x-ray framing cameras and their imaging ability.

Trosseille CA, Benedetti LR, Beach MS, Boyle DT, Hargrove DR, Holder JP, Lumbard AA, Ruchonnet GW, Bradley DK.

Rev Sci Instrum. 2018 Oct;89(10):10G109. doi: 10.1063/1.5038738.

PMID:
30399958
19.

The dilation aided single-line-of-sight x-ray camera for the National Ignition Facility: Characterization and fielding.

Nagel SR, Carpenter AC, Park J, Dayton MS, Bell PM, Bradley DK, Funsten BT, Hatch BW, Heerey S, Hill JM, Holder JP, Hurd ER, Macaraeg CC, Patel PB, Petre RB, Piston K, Trosseille CA, Engelhorn K, Hilsabeck TJ, Chung TM, Dymoke-Bradshaw AKL, Hares JD, Claus LD, England TD, Mitchell BB, Porter JL, Robertson G, Sanchez MO.

Rev Sci Instrum. 2018 Oct;89(10):10G125. doi: 10.1063/1.5038671.

PMID:
30399712
20.

Glass ionomer cements with milled, dry chlorhexidine hexametaphosphate filler particles to provide long-term antimicrobial properties with recharge capacity.

Bellis CA, Addison O, Nobbs AH, Duckworth PF, Holder JA, Barbour ME.

Dent Mater. 2018 Dec;34(12):1717-1726. doi: 10.1016/j.dental.2018.09.003. Epub 2018 Sep 21.

21.

Speech Recognition in Noise for Adults With Normal Hearing: Age-Normative Performance for AzBio, BKB-SIN, and QuickSIN.

Holder JT, Levin LM, Gifford RH.

Otol Neurotol. 2018 Dec;39(10):e972-e978. doi: 10.1097/MAO.0000000000002003.

PMID:
30247429
22.

Intra-Cochlear Electrocochleography During Cochear Implant Electrode Insertion Is Predictive of Final Scalar Location.

Koka K, Riggs WJ, Dwyer R, Holder JT, Noble JH, Dawant BM, Ortmann A, Valenzuela CV, Mattingly JK, Harris MM, O'Connell BP, Litvak LM, Adunka OF, Buchman CA, Labadie RF.

Otol Neurotol. 2018 Sep;39(8):e654-e659. doi: 10.1097/MAO.0000000000001906.

PMID:
30113557
23.

Aging and the role of attention in associative learning.

Mutter SA, Holder JM, Mashburn CA, Luna CM.

Psychol Aging. 2019 Mar;34(2):215-227. doi: 10.1037/pag0000277. Epub 2018 Jul 30.

PMID:
30058825
24.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.

Xing Y, Holder JL Jr, Liu Y, Yuan M, Sun Q, Qu X, Deng L, Zhou J, Yang Y, Guo M, Cheung SW, Sun L.

Arch Gynecol Obstet. 2018 Aug;298(2):289-295. doi: 10.1007/s00404-018-4798-1. Epub 2018 May 28.

PMID:
29808250
25.

Discovery of Melanocortin Ligands via a Double Simultaneous Substitution Strategy Based on the Ac-His-dPhe-Arg-Trp-NH2 Template.

Todorovic A, Lensing CJ, Holder JR, Scott JW, Sorensen NB, Haskell-Luevano C.

ACS Chem Neurosci. 2018 Nov 21;9(11):2753-2766. doi: 10.1021/acschemneuro.8b00181. Epub 2018 Jun 11.

PMID:
29783840
26.

Prevalence of Extracochlear Electrodes: Computerized Tomography Scans, Cochlear Implant Maps, and Operative Reports.

Holder JT, Kessler DM, Noble JH, Gifford RH, Labadie RF.

Otol Neurotol. 2018 Jun;39(5):e325-e331. doi: 10.1097/MAO.0000000000001818.

PMID:
29738386
27.

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL Jr, Betancur C, Buxbaum JD, Kolevzon A.

Mol Autism. 2018 Apr 27;9:31. doi: 10.1186/s13229-018-0205-9. eCollection 2018.

28.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY.

Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006.

29.

Acoustic separation in plastic microfluidics for rapid detection of bacteria in blood using engineered bacteriophage.

Dow P, Kotz K, Gruszka S, Holder J, Fiering J.

Lab Chip. 2018 Mar 13;18(6):923-932. doi: 10.1039/c7lc01180f.

PMID:
29445800
30.

Current Profile of Adults Presenting for Preoperative Cochlear Implant Evaluation.

Holder JT, Reynolds SM, Sunderhaus LW, Gifford RH.

Trends Hear. 2018 Jan-Dec;22:2331216518755288. doi: 10.1177/2331216518755288.

31.

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.

Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL Jr, Bi W.

Am J Med Genet A. 2018 Apr;176(4):973-979. doi: 10.1002/ajmg.a.38622. Epub 2018 Feb 9.

32.

Preclinical imaging methods for assessing the safety and efficacy of regenerative medicine therapies.

Scarfe L, Brillant N, Kumar JD, Ali N, Alrumayh A, Amali M, Barbellion S, Jones V, Niemeijer M, Potdevin S, Roussignol G, Vaganov A, Barbaric I, Barrow M, Burton NC, Connell J, Dazzi F, Edsbagge J, French NS, Holder J, Hutchinson C, Jones DR, Kalber T, Lovatt C, Lythgoe MF, Patel S, Patrick PS, Piner J, Reinhardt J, Ricci E, Sidaway J, Stacey GN, Starkey Lewis PJ, Sullivan G, Taylor A, Wilm B, Poptani H, Murray P, Goldring CEP, Park BK.

NPJ Regen Med. 2017 Oct 19;2:28. doi: 10.1038/s41536-017-0029-9. eCollection 2017. Review.

33.

Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.

Lyons-Warren AM, Cheung SW, Holder JL Jr.

Neurology. 2017 Oct 24;89(17):e205-e209. doi: 10.1212/WNL.0000000000004573. No abstract available.

34.

SimBA: A methodology and tools for evaluating the performance of RNA-Seq bioinformatic pipelines.

Audoux J, Salson M, Grosset CF, Beaumeunier S, Holder JM, Commes T, Philippe N.

BMC Bioinformatics. 2017 Sep 29;18(1):428. doi: 10.1186/s12859-017-1831-5.

35.

Patterns Seen During Electrode Insertion Using Intracochlear Electrocochleography Obtained Directly Through a Cochlear Implant.

Harris MS, Riggs WJ, Giardina CK, O'Connell BP, Holder JT, Dwyer RT, Koka K, Labadie RF, Fitzpatrick DC, Adunka OF.

Otol Neurotol. 2017 Dec;38(10):1415-1420. doi: 10.1097/MAO.0000000000001559.

36.

Engineering Antibody Reactivity for Efficient Derivatization to Generate NaV1.7 Inhibitory GpTx-1 Peptide-Antibody Conjugates.

Biswas K, Nixey TE, Murray JK, Falsey JR, Yin L, Liu H, Gingras J, Hall BE, Herberich B, Holder JR, Li H, Ligutti J, Lin MJ, Liu D, Soriano BD, Soto M, Tran L, Tegley CM, Zou A, Gunasekaran K, Moyer BD, Doherty L, Miranda LP.

ACS Chem Biol. 2017 Sep 15;12(9):2427-2435. doi: 10.1021/acschembio.7b00542. Epub 2017 Aug 28.

PMID:
28800217
37.

Rapid prototyping and parametric optimization of plastic acoustofluidic devices for blood-bacteria separation.

Silva R, Dow P, Dubay R, Lissandrello C, Holder J, Densmore D, Fiering J.

Biomed Microdevices. 2017 Sep;19(3):70. doi: 10.1007/s10544-017-0210-3.

PMID:
28779375
38.

Predictive factors for short- and long-term hearing preservation in cochlear implantation with conventional-length electrodes.

Wanna GB, O'Connell BP, Francis DO, Gifford RH, Hunter JB, Holder JT, Bennett ML, Rivas A, Labadie RF, Haynes DS.

Laryngoscope. 2018 Feb;128(2):482-489. doi: 10.1002/lary.26714. Epub 2017 Jun 22.

39.

Intra- and Postoperative Electrocochleography May Be Predictive of Final Electrode Position and Postoperative Hearing Preservation.

O'Connell BP, Holder JT, Dwyer RT, Gifford RH, Noble JH, Bennett ML, Rivas A, Wanna GB, Haynes DS, Labadie RF.

Front Neurosci. 2017 May 29;11:291. doi: 10.3389/fnins.2017.00291. eCollection 2017.

40.

Real-Time Intracochlear Electrocochleography Obtained Directly Through a Cochlear Implant.

Harris MS, Riggs WJ, Koka K, Litvak LM, Malhotra P, Moberly AC, O'Connell BP, Holder J, Di Lella FA, Boccio CM, Wanna GB, Labadie RF, Adunka OF.

Otol Neurotol. 2017 Jul;38(6):e107-e113. doi: 10.1097/MAO.0000000000001425.

PMID:
28498269
41.

Managing Depressive Symptoms in the Workplace Using a Web-Based Self-Care Tool: A Pilot Randomized Controlled Trial.

Hirsch A, Luellen J, Holder JM, Steinberg G, Dubiel T, Blazejowskyj A, Schladweiler K.

JMIR Res Protoc. 2017 Apr 4;6(4):e51. doi: 10.2196/resprot.7203.

42.

Rapid establishment of the European Bank for induced Pluripotent Stem Cells (EBiSC) - the Hot Start experience.

De Sousa PA, Steeg R, Wachter E, Bruce K, King J, Hoeve M, Khadun S, McConnachie G, Holder J, Kurtz A, Seltmann S, Dewender J, Reimann S, Stacey G, O'Shea O, Chapman C, Healy L, Zimmermann H, Bolton B, Rawat T, Atkin I, Veiga A, Kuebler B, Serano BM, Saric T, Hescheler J, Brüstle O, Peitz M, Thiele C, Geijsen N, Holst B, Clausen C, Lako M, Armstrong L, Gupta SK, Kvist AJ, Hicks R, Jonebring A, Brolén G, Ebneth A, Cabrera-Socorro A, Foerch P, Geraerts M, Stummann TC, Harmon S, George C, Streeter I, Clarke L, Parkinson H, Harrison PW, Faulconbridge A, Cherubin L, Burdett T, Trigueros C, Patel MJ, Lucas C, Hardy B, Predan R, Dokler J, Brajnik M, Keminer O, Pless O, Gribbon P, Claussen C, Ringwald A, Kreisel B, Courtney A, Allsopp TE.

Stem Cell Res. 2017 Apr;20:105-114. doi: 10.1016/j.scr.2017.03.002. Epub 2017 Mar 7.

43.

Insertion depth impacts speech perception and hearing preservation for lateral wall electrodes.

O'Connell BP, Hunter JB, Haynes DS, Holder JT, Dedmon MM, Noble JH, Dawant BM, Wanna GB.

Laryngoscope. 2017 Oct;127(10):2352-2357. doi: 10.1002/lary.26467. Epub 2017 Mar 17.

44.

Speaking Up for Patients.

Holder J.

Am J Nurs. 2017 Mar;117(3):13. doi: 10.1097/01.NAJ.0000513265.05861.98. No abstract available.

PMID:
28230667
45.

Cochlear implantation for single-sided deafness and tinnitus suppression.

Holder JT, O'Connell B, Hedley-Williams A, Wanna G.

Am J Otolaryngol. 2017 Mar - Apr;38(2):226-229. doi: 10.1016/j.amjoto.2017.01.020. Epub 2017 Jan 19.

PMID:
28132726
46.

Characterization of x-ray framing cameras for the National Ignition Facility using single photon pulse height analysis.

Holder JP, Benedetti LR, Bradley DK.

Rev Sci Instrum. 2016 Nov;87(11):11D618.

PMID:
27910503
47.

A comparison of "flat fielding" techniques for x-ray framing cameras.

Benedetti LR, Trosseille C, Holder JP, Piston K, Hargrove D, Bradley DK, Bell P, Raimbourg J, Prat M, Pickworth LA, Khan SF.

Rev Sci Instrum. 2016 Nov;87(11):11D622.

PMID:
27910442
48.

Spatial resolution measurements of the advanced radiographic capability x-ray imaging system at energies relevant to Compton radiography.

Hall GN, Izumi N, Landen OL, Tommasini R, Holder JP, Hargrove D, Bradley DK, Lumbard A, Cruz JG, Piston K, Lee JJ, Romano E, Bell PM, Carpenter AC, Palmer NE, Felker B, Rekow V, Allen FV.

Rev Sci Instrum. 2016 Nov;87(11):11E310.

PMID:
27910309
49.

Effect of Exergaming on Physiological Response and Enjoyment During Recess in Elementary School-Aged Children: A Pilot Study.

Vallabhajosula S, Holder JB, Bailey EK.

Games Health J. 2016 Oct;5(5):325-332. Epub 2016 Sep 23.

PMID:
27661265
50.

Adult-Onset Idiopathic Hypertrophic Pyloric Stenosis Associated With Osteoglophonic Dysplasia and HIV: Case Report and Review of Literature.

Holder J, Zinn D, Samin A.

Ultrasound Q. 2017 Mar;33(1):77-81. doi: 10.1097/RUQ.0000000000000238. Review.

PMID:
27599310

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