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Items: 50

1.

Short telomere syndromes cause a primary T cell immunodeficiency.

Wagner CL, Hanumanthu VS, Talbot CC Jr, Abraham RS, Hamm D, Gable DL, Kanakry CG, Applegate CD, Siliciano J, Jackson JB, Desiderio S, Alder JK, Luznik L, Armanios M.

J Clin Invest. 2018 Oct 22. pii: 120216. doi: 10.1172/JCI120216. [Epub ahead of print]

2.

Diagnostic utility of telomere length testing in a hospital-based setting.

Alder JK, Hanumanthu VS, Strong MA, DeZern AE, Stanley SE, Takemoto CM, Danilova L, Applegate CD, Bolton SG, Mohr DW, Brodsky RA, Casella JF, Greider CW, Jackson JB, Armanios M.

Proc Natl Acad Sci U S A. 2018 Mar 6;115(10):E2358-E2365. doi: 10.1073/pnas.1720427115. Epub 2018 Feb 20. Erratum in: Proc Natl Acad Sci U S A. 2018 Apr 23;:.

3.

Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.

Berrios C, James CA, Raraigh K, Bollinger J, Murray B, Tichnell C, Applegate CD, Bergner AL.

J Genet Couns. 2018 Feb;27(1):263-273. doi: 10.1007/s10897-017-0143-2. Epub 2017 Sep 20.

PMID:
28932961
4.

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver E, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT.

J Med Genet. 2018 Aug;55(8):561-566. doi: 10.1136/jmedgenet-2017-104759. Epub 2017 Sep 2.

5.

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ.

Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22.

6.

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.

Stanley SE, Gable DL, Wagner CL, Carlile TM, Hanumanthu VS, Podlevsky JD, Khalil SE, DeZern AE, Rojas-Duran MF, Applegate CD, Alder JK, Parry EM, Gilbert WV, Armanios M.

Sci Transl Med. 2016 Aug 10;8(351):351ra107. doi: 10.1126/scitranslmed.aaf7837.

7.

CRB1-Related Maculopathy With Cystoid Macular Edema.

Wolfson Y, Applegate CD, Strauss RW, Han IC, Scholl HP.

JAMA Ophthalmol. 2015 Nov;133(11):1357-60. doi: 10.1001/jamaophthalmol.2015.2814. No abstract available.

PMID:
26312378
8.

The impact of chromosomal microarray on clinical management: a retrospective analysis.

Henderson LB, Applegate CD, Wohler E, Sheridan MB, Hoover-Fong J, Batista DA.

Genet Med. 2014 Sep;16(9):657-64. doi: 10.1038/gim.2014.18. Epub 2014 Mar 13.

PMID:
24625444
9.

A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.

Lemmon ME, Lavenstein B, Applegate CD, Hamosh A, Tekes A, Singer HS.

Mov Disord. 2013 Dec;28(14):1937-8. doi: 10.1002/mds.25703. Epub 2013 Oct 18. No abstract available.

PMID:
24142417
10.

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

Fahrner JA, Frazier A, Bachir S, Walsh MF, Applegate CD, Thompson R, Halushka MK, Murphy AM, Gunay-Aygun M.

Am J Med Genet A. 2012 Jun;158A(6):1414-21. doi: 10.1002/ajmg.a.35363. Epub 2012 May 14.

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Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease.

Kriscenski-Perry E, Applegate CD, Serour A, Mhyre TR, Leonardo CC, Pearce DA.

Epilepsia. 2002 Oct;43(10):1137-40.

17.
18.

The role of the ventromedial nucleus of the hypothalamus in epileptogenesis.

Ferland RJ, Applegate CD.

Neuroreport. 1998 Nov 16;9(16):3623-9. Erratum in: Neuroreport 2000 Mar 20;11(4):inside back cover, 899.

PMID:
9858370
19.

A role for the bilateral involvement of perirhinal cortex in generalized kindled seizure expression.

Ferland RJ, Nierenberg J, Applegate CD.

Exp Neurol. 1998 May;151(1):124-37.

PMID:
9582260
20.

Regional analysis of the spatial patterns of Fos induction in brain following flurothyl kindling.

Samoriski GM, Piekut DT, Applegate CD.

Neuroscience. 1998 Jun;84(4):1209-22.

PMID:
9578407
23.

Effects of valproate, phenytoin, and MK-801 in a novel model of epileptogenesis.

Applegate CD, Samoriski GM, Ozduman K.

Epilepsia. 1997 Jun;38(6):631-6.

24.

Apoptotic and necrotic cell death following kindling induced seizures.

Pretel S, Applegate CD, Piekut D.

Acta Histochem. 1997 Mar;99(1):71-9.

PMID:
9150799
25.

Differential spatial patterns of Fos induction following generalized clonic and generalized tonic seizures.

Samoriski GM, Piekut DT, Applegate CD.

Exp Neurol. 1997 Feb;143(2):255-68.

PMID:
9056388
26.
27.

The effects of neonatal hypoxia on kindled seizure development and electroconvulsive shock profiles.

Applegate CD, Jensen F, Burchfiel JL, Lombroso C.

Epilepsia. 1996 Aug;37(8):723-7.

PMID:
8764809
28.

Oxytocin and vasopressin mRNA expression in rat hypothalamus following kainic acid-induced seizures.

Sun Q, Pretel S, Applegate CD, Piekut DT.

Neuroscience. 1996 Mar;71(2):543-54.

PMID:
9053806
29.

The kindling-activated neuronal network: recruitment of somatostatin-synthesizing neurons.

Pretel S, Applegate CD, Piekut DT.

Brain Res Bull. 1996;41(4):237-47.

PMID:
8924034
30.
31.

The substantia nigra pars reticulata, seizures and Fos expression.

Applegate CD, Pretel S, Piekut DT.

Epilepsy Res. 1995 Jan;20(1):31-9.

PMID:
7713058
32.

Seizure-induced activation of enkephalin- and somatostatin-synthesizing neurons.

Pretel S, Applegate CD, Piekut DT.

Peptides. 1995;16(5):951-7.

PMID:
7479341
33.
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36.

Epileptogenic effect of hypoxia in the immature rodent brain.

Jensen FE, Applegate CD, Holtzman D, Belin TR, Burchfiel JL.

Ann Neurol. 1991 Jun;29(6):629-37.

PMID:
1909851
37.

Perinatal exposure to anoxia alone does not alter the susceptibility to amygdaloid-kindled seizures in the adult rabbit.

DeLeo JA, Applegate CD, Burchfiel JL, Lorenzo AV, Hsi DH.

Brain Res. 1990 Jul 2;522(1):168-71.

PMID:
2224513
38.

Evidence for a norepinephrine-dependent brain-stem substrate in the development of kindling antagonism.

Applegate CD, Burchfiel JL.

Epilepsy Res. 1990 May-Jun;6(1):23-32.

PMID:
2113465
39.

Stepwise progression of kindling: perspectives from the kindling antagonism model.

Burchfiel JL, Applegate CD.

Neurosci Biobehav Rev. 1989 Winter;13(4):289-99. Review.

PMID:
2691934
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43.

Effects of amphetamine, methylphenidate, and apomorphine on regional brain serotonin and 5-hydroxyindole acetic acid.

Kuczenski R, Segal DS, Leith NJ, Applegate CD.

Psychopharmacology (Berl). 1987;93(3):329-35.

PMID:
2448842
44.

The effects of chronic desmethylimipramine on entorhinal cortical kindling in rats.

Applegate CD, Flashman LA, Burchfiel JL.

Brain Res. 1986 Nov 19;398(1):121-7.

PMID:
3801885
45.
46.

Autonomic and somatomotor effects of amygdala central N. stimulation in awake rabbits.

Applegate CD, Kapp BS, Underwood MD, McNall CL.

Physiol Behav. 1983 Sep;31(3):353-60.

PMID:
6635005
47.

Striatal dopamine metabolism in response to apomorphine: the effects of repeated amphetamine pretreatment.

Kuczenski R, Leith NJ, Applegate CD.

Brain Res. 1983 Jan 10;258(2):333-7.

PMID:
6824917
48.

Role of serotonergic input in the regulation of the beta-adrenergic receptor-coupled adenylate cyclase system.

Janowsky A, Okada F, Manier DH, Applegate CD, Sulser F, Steranka LR.

Science. 1982 Nov 26;218(4575):900-1.

PMID:
6291152
49.

Multiple unit activity recorded from amygdala central nucleus during Pavlovian heart rate conditioning in rabbit.

Applegate CD, Frysinger RC, Kapp BS, Gallagher M.

Brain Res. 1982 Apr 29;238(2):457-62.

PMID:
7093668
50.

5,7-dihydroxytryptamine-induced mouse killing and behavioral reversal with ventricular administration of serotonin in rats.

Applegate CD.

Behav Neural Biol. 1980 Oct;30(2):178-90. No abstract available.

PMID:
7192550

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