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Items: 1 to 50 of 216

1.

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.

McNeill AM, Hudock RL, Foy AMH, Shanley R, Semrud-Clikeman M, Pierpont ME, Berry SA, Sommer K, Moertel CL, Pierpont EI.

Am J Med Genet A. 2019 Sep 30. doi: 10.1002/ajmg.a.61361. [Epub ahead of print]

PMID:
31566897
2.

ZnO indiffused MgO:PPLN ridge waveguides.

Carpenter LG, Berry SA, Bannerman RHS, Gray AC, Gawith CBE.

Opt Express. 2019 Aug 19;27(17):24538-24544. doi: 10.1364/OE.27.024538.

PMID:
31510341
3.

Developing interactions with industry in rare diseases: lessons learned and continuing challenges.

Berry SA, Coughlin CR 2nd, McCandless S, McCarter R, Seminara J, Yudkoff M, LeMons C.

Genet Med. 2019 Jul 24. doi: 10.1038/s41436-019-0616-9. [Epub ahead of print]

PMID:
31337884
4.

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL 2nd, Berquist W, Gallagher RC, Bartholomew D, McCandless SE, Smith WE, Harding CO, Zori R, Lichter-Konecki U, Vockley J, Canavan C, Vescio T, Holt RJ, Berry SA.

Mol Genet Metab. 2019 Aug;127(4):336-345. doi: 10.1016/j.ymgme.2019.07.004. Epub 2019 Jul 10.

5.

Low-level viremia and virologic failure in persons with HIV infection treated with antiretroviral therapy.

Fleming J, Mathews WC, Rutstein RM, Aberg J, Somboonwit C, Cheever LW, Berry SA, Gebo KA, Moore RD; HIV Research Network.

AIDS. 2019 Nov 1;33(13):2005-2012. doi: 10.1097/QAD.0000000000002306.

PMID:
31306175
6.

Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.

Burke W, Clayton EW, Wolf SM, Berry SA, Evans BJ, Evans JP, Hall R, Korngiebel D, Laberge AM, LeRoy BS, McGuire AL.

Genet Med. 2019 Jun 4. doi: 10.1038/s41436-019-0549-3. [Epub ahead of print] Review.

PMID:
31160753
7.

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.

Wiens K, Berry SA, Choi H, Gaviglio A, Gupta A, Hietala A, Kenney-Jung D, Lund T, Miller W, Pierpont EI, Raymond G, Winslow H, Zierhut HA, Orchard PJ.

Am J Med Genet A. 2019 Jul;179(7):1205-1213. doi: 10.1002/ajmg.a.61171. Epub 2019 May 10.

8.

Gonorrhoea and chlamydia in persons with HIV: number needed to screen.

Tuddenham S, Ghanem KG, Gebo KA, Moore RD, Mathews WC, Agwu A, Mayer K, Schumacher C, Raifman J, Berry SA.

Sex Transm Infect. 2019 Aug;95(5):322-327. doi: 10.1136/sextrans-2018-053793. Epub 2019 Apr 6.

PMID:
30954953
9.

Gonorrhoea and chlamydia diagnosis as an entry point for HIV pre-exposure prophylaxis: a modelling study.

Kasaie P, Schumacher CM, Jennings JM, Berry SA, Tuddenham SA, Shah MS, Rosenberg ES, Hoover KW, Gift TL, Chesson H, German D, Dowdy DW.

BMJ Open. 2019 Mar 4;9(3):e023453. doi: 10.1136/bmjopen-2018-023453.

10.

An Inpatient HIV Support Nurse to Promote Engagement in Outpatient HIV Care.

Holmes E, Thompson D, Michell D, Smith JM, Zoltick MI, Gebo KA, Moore RD, Eldred L, Ciaranello A, Berry SA.

J Assoc Nurses AIDS Care. 2019 Mar-Apr;30(2):245-248. doi: 10.1097/JNC.0000000000000017. No abstract available.

PMID:
30822297
11.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J.

Genet Med. 2019 Sep;21(9):2036-2042. doi: 10.1038/s41436-019-0454-9. Epub 2019 Feb 11.

PMID:
30739909
12.

HIV viral suppression after transition from having no healthcare coverage and relying on Ryan White HIV/AIDS Program Support to Medicaid or private health insurance.

Raifman J, Althoff K, Rebeiro PF, Cheever LW, Hauck H, Aberg J, Gebo K, Moore R, Berry SA; The HIV Research Network.

Clin Infect Dis. 2018 Dec 24. doi: 10.1093/cid/ciy1088. [Epub ahead of print]

PMID:
30590421
13.

Uptake and virological outcomes of single- versus multi-tablet antiretroviral regimens among treatment-naïve youth in the HIV Research Network.

Griffith DC, Farmer C, Gebo KA, Berry SA, Aberg J, Moore RD, Gaur AH, Mathews WC, Beil R, Korthuis PT, Nijhawan AE, Rutstein RM, Agwu AL; HIV Research Network.

HIV Med. 2019 Feb;20(2):169-174. doi: 10.1111/hiv.12695. Epub 2018 Dec 18.

PMID:
30561888
14.

Patient isolation for infection control and patient experience.

Siddiqui ZK, Conway SJ, Abusamaan M, Bertram A, Berry SA, Allen L, Apfel A, Farley H, Zhu J, Wu AW, Brotman DJ.

Infect Control Hosp Epidemiol. 2018 Dec 18:1-6. doi: 10.1017/ice.2018.324. [Epub ahead of print]

PMID:
30560748
15.

Foundation of the Newborn Screening Translational Research Network and its tools for research.

Lloyd-Puryear M, Brower A, Berry SA, Brosco JP, Bowdish B, Watson MS.

Genet Med. 2019 Jun;21(6):1271-1279. doi: 10.1038/s41436-018-0334-8. Epub 2018 Nov 5. Review.

PMID:
30393376
16.

Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders.

Berry SA, Vockley J, Vinks AA, Dong M, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Perdok R, Robinson B, Holt RJ, Longo N.

Mol Genet Metab. 2018 Nov;125(3):251-257. doi: 10.1016/j.ymgme.2018.09.001. Epub 2018 Sep 4.

17.

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants.

Wolf SM, Scholtes E, Koenig BA, Petersen GM, Berry SA, Beskow LM, Daly MB, Fernandez CV, Green RC, LeRoy BS, Lindor NM, O'Rourke PP, Breitkopf CR, Rothstein MA, Van Ness B, Wilfond BS.

J Law Med Ethics. 2018 Mar;46(1):87-109. doi: 10.1177/1073110518766024. Epub 2018 Mar 27. No abstract available.

18.

Impact of Providing Preexposure Prophylaxis for Human Immunodeficiency Virus at Clinics for Sexually Transmitted Infections in Baltimore City: An Agent-based Model.

Kasaie P, Berry SA, Shah MS, Rosenberg ES, Hoover KW, Gift TL, Chesson H, Pennington J, German D, Flynn CP, Beyrer C, Dowdy DW.

Sex Transm Dis. 2018 Dec;45(12):791-797. doi: 10.1097/OLQ.0000000000000882.

19.

Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions.

Esdal HCD, Ghbeis MB, Saltzman DA, Hess D, Hume JR, Reed RC, Berry SA, Hoggard E, Hirsch B, Baughn LB, Schimmenti LA.

Mol Syndromol. 2018 May;9(3):141-148. doi: 10.1159/000488817. Epub 2018 Apr 28.

20.

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.

Pierpont EI, Hudock RL, Foy AM, Semrud-Clikeman M, Pierpont ME, Berry SA, Shanley R, Rubin N, Sommer K, Moertel CL.

J Neurodev Disord. 2018 Jun 18;10(1):21. doi: 10.1186/s11689-018-9239-8.

21.

Relative Bioavailability of Methylphenidate Extended-release Chewable Tablets Chewed Versus Swallowed Whole.

Abbas R, Childress AC, Nagraj P, Rolke R, Berry SA, Palumbo DR.

Clin Ther. 2018 May;40(5):733-740. doi: 10.1016/j.clinthera.2018.03.016. Epub 2018 Apr 25.

PMID:
29703430
22.

Optimization of Methylphenidate Extended-Release Chewable Tablet Dose in Children with ADHD: Open-Label Dose Optimization in a Laboratory Classroom Study.

Wigal SB, Childress A, Berry SA, Belden HW, Chappell P, Wajsbrot DB, Nagraj P, Abbas R, Palumbo D.

J Child Adolesc Psychopharmacol. 2018 Jun;28(5):314-321. doi: 10.1089/cap.2017.0138. Epub 2018 Mar 13.

23.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Kortüm F, Jamra RA, Alawi M, Berry SA, Borck G, Helbig KL, Tang S, Huhle D, Korenke GC, Hebbar M, Shukla A, Girisha KM, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke JR, Kutsche K.

Eur J Hum Genet. 2018 May;26(5):695-708. doi: 10.1038/s41431-018-0098-2. Epub 2018 Feb 20.

24.

Xanthogranuloma of the epididymis.

Ting J, Jin Q, Biles M, Berry SA, Shah M, Herati AS.

Urol Case Rep. 2018 Jan 9;17:50-52. doi: 10.1016/j.eucr.2018.01.004. eCollection 2018 Mar. No abstract available.

25.

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.

Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH.

Am J Hum Genet. 2018 Jan 4;102(1):188-195. doi: 10.1016/j.ajhg.2017.12.009.

26.

Efficacy and Safety of Amphetamine Extended-Release Oral Suspension in Children with Attention-Deficit/Hyperactivity Disorder.

Childress AC, Wigal SB, Brams MN, Turnbow JM, Pincus Y, Belden HW, Berry SA.

J Child Adolesc Psychopharmacol. 2018 Jun;28(5):306-313. doi: 10.1089/cap.2017.0095. Epub 2017 Dec 6.

27.

A Department of Medicine Infrastructure for Patient Safety and Clinical Quality Improvement.

Mathews SC, Pronovost PJ, Daugherty Biddison EL, Petty BG, Anderson ME, Nelson TS, Outten K, Langlotz R, Duda D, Herzke CA, Peairs KS, Golden SH, Lautzenheiser MB, James HJ, Desai SV, Keller SC, Feldman LS, Pahwa AK, Berry SA.

Am J Med Qual. 2018 Jul;33(4):413-419. doi: 10.1177/1062860617743324. Epub 2017 Nov 28.

PMID:
29183149
28.

Primary Care Provider Preferences for Communication with Inpatient Teams: One Size Does Not Fit All.

Lawrence D, Shah AK, Lee EK, Conway SJ, Ramkumar MK, James HJ, Queale WS, Keller SC, Biddison EL, Gregg PC, Ashar BH, Desai SV, Brotman DJ, Berry SA.

J Hosp Med. 2018 Mar 1;13(3):177-178. doi: 10.12788/jhm.2874. Epub 2017 Nov 8. No abstract available.

PMID:
29154380
29.

Observations from direct UV-written, non-hydrogen-loaded, thermally regenerated Bragg gratings in double-clad photosensitive fiber.

Jantzen A, Bannerman RHS, Berry SA, Gates JC, Gow PC, Boyd LJ, Smith PGR, Holmes C.

Opt Lett. 2017 Oct 1;42(19):3741-3744. doi: 10.1364/OL.42.003741.

PMID:
28957116
30.

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Berry SA, Longo N, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, Vockley J.

Mol Genet Metab. 2017 Nov;122(3):46-53. doi: 10.1016/j.ymgme.2017.09.002. Epub 2017 Sep 8.

31.

Gonorrhea and Chlamydia Case Detection Increased When Testing Increased in a Multisite US HIV Cohort, 2004-2014.

Raifman JR, Gebo KA, Mathews WC, Korthuis PT, Ghanem KG, Aberg JA, Moore RD, Nijhawan AE, Monroe AK, Berry SA; HIV Research Network.

J Acquir Immune Defic Syndr. 2017 Dec 1;76(4):409-416. doi: 10.1097/QAI.0000000000001514.

32.

Effect of Food Intake on the Pharmacokinetics of a Novel Methylphenidate Extended-Release Oral Suspension for Attention Deficit Hyperactivity Disorder.

Sallee FR, Palumbo DR, Abbas R, Berry SA, Puthli SP, Kathala KK.

Clin Pharmacol Drug Dev. 2017 Sep;6(5):476-483. doi: 10.1002/cpdd.366. Epub 2017 Jun 19.

PMID:
28628269
33.

Efficacy and Safety of a Chewable Methylphenidate Extended-Release Tablet in Children with Attention-Deficit/Hyperactivity Disorder.

Wigal SB, Childress A, Berry SA, Belden H, Walters F, Chappell P, Sherman N, Orazem J, Palumbo D.

J Child Adolesc Psychopharmacol. 2017 Oct;27(8):690-699. doi: 10.1089/cap.2016.0177. Epub 2017 May 30.

34.

The Impact of Preexposure Prophylaxis Among Men Who Have Sex With Men: An Individual-Based Model.

Kasaie P, Pennington J, Shah MS, Berry SA, German D, Flynn CP, Beyrer C, Dowdy DW.

J Acquir Immune Defic Syndr. 2017 Jun 1;75(2):175-183. doi: 10.1097/QAI.0000000000001354.

35.

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).

Stein QP, Vockley CW, Edick MJ, Zhai S, Hiner SJ, Loman RS, Davis-Keppen L, Zuck TA, Cameron CA, Berry SA; Inborn Errors of Metabolism Collaborative.

J Genet Couns. 2017 Dec;26(6):1238-1243. doi: 10.1007/s10897-017-0100-0. Epub 2017 Apr 27.

36.

Finding Balance: Standardizing Practice Is Corseting Physician Judgement.

Pronovost PJ, Berry SA, Sutcliffe KM.

Am J Med Qual. 2018 May/Jun;33(3):323-325. doi: 10.1177/1062860617706543. Epub 2017 Apr 27. No abstract available.

PMID:
28447853
37.

Comparing longitudinal CD4 responses to cART among non-perinatally HIV-infected youth versus adults: Results from the HIVRN Cohort.

Agwu AL, Fleishman JA, Mahiane G, Nonyane BA, Althoff KN, Yehia BR, Berry SA, Rutstein R, Nijhawan A, Mathews C, Aberg JA, Keruly JC, Moore RD, Gebo KA; HIV Research Network.

PLoS One. 2017 Feb 9;12(2):e0171125. doi: 10.1371/journal.pone.0171125. eCollection 2017.

38.

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.

McCrory NM, Edick MJ, Ahmad A, Lipinski S, Scott Schwoerer JA, Zhai S, Justice K, Cameron CA, Berry SA, Pena LD; Inborn Errors of Metabolism Collaborative.

J Pediatr. 2017 Jan;180:200-205.e8. doi: 10.1016/j.jpeds.2016.09.050. Epub 2016 Oct 21.

39.

Closing the Gap in Antiretroviral Initiation and Viral Suppression: Time Trends and Racial Disparities.

Haines CF, Fleishman JA, Yehia BR, Lau B, Berry SA, Agwu AL, Moore RD, Gebo KA.

J Acquir Immune Defic Syndr. 2016 Nov 1;73(3):340-347.

40.

A Model for the Departmental Quality Management Infrastructure Within an Academic Health System.

Mathews SC, Demski R, Hooper JE, Biddison LD, Berry SA, Petty BG, Chen AR, Hill PM, Miller MR, Witter FR, Allen L, Wick EC, Stierer TS, Paine L, Puttgen HA, Tamargo RJ, Pronovost PJ.

Acad Med. 2017 May;92(5):608-613. doi: 10.1097/ACM.0000000000001380.

PMID:
27603038
41.

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA; Inborn Errors of Metabolism Collaborative.

Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15.

42.

A framework for assessing outcomes from newborn screening: on the road to measuring its promise.

Hinton CF, Homer CJ, Thompson AA, Williams A, Hassell KL, Feuchtbaum L, Berry SA, Comeau AM, Therrell BL, Brower A, Harris KB, Brown C, Monaco J, Ostrander RJ, Zuckerman AE, Kaye C, Dougherty D, Greene C, Green NS; Follow-up and Treatment Sub-committee of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC).

Mol Genet Metab. 2016 Aug;118(4):221-9. doi: 10.1016/j.ymgme.2016.05.017. Epub 2016 May 31.

43.

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Pena LD, van Calcar SC, Hansen J, Edick MJ, Walsh Vockley C, Leslie N, Cameron C, Mohsen AW, Berry SA, Arnold GL, Vockley J; IBEMC.

Mol Genet Metab. 2016 Aug;118(4):272-81. doi: 10.1016/j.ymgme.2016.05.007. Epub 2016 May 13.

44.

Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.

Berry SA, Leslie ND, Edick MJ, Hiner S, Justice K, Cameron C.

Genet Med. 2016 Dec;18(12):1276-1281. doi: 10.1038/gim.2016.57. Epub 2016 May 19.

45.

Healthcare Coverage for HIV Provider Visits Before and After Implementation of the Affordable Care Act.

Berry SA, Fleishman JA, Yehia BR, Cheever LW, Hauck H, Korthuis PT, Mathews WC, Keruly J, Nijhawan AE, Agwu AL, Somboonwit C, Moore RD, Gebo KA; HIV Research Network.

Clin Infect Dis. 2016 Aug 1;63(3):387-95. doi: 10.1093/cid/ciw278. Epub 2016 May 3.

46.

External cavity diode laser based upon an FBG in an integrated optical fiber platform.

Lynch SG, Holmes C, Berry SA, Gates JC, Jantzen A, Ferreiro TI, Smith PG.

Opt Express. 2016 Apr 18;24(8):8391-8. doi: 10.1364/OE.24.008391.

PMID:
27137276
47.

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative.

Mol Genet Metab. 2016 May;118(1):15-20. doi: 10.1016/j.ymgme.2016.02.002. Epub 2016 Feb 15.

48.

Single-dose Pharmacokinetic Properties and Relative Bioavailability of a Novel Methylphenidate Extended-release Chewable Tablet Compared With Immediate-release Methylphenidate Chewable Tablet.

Abbas R, Palumbo D, Walters F, Belden H, Berry SA.

Clin Ther. 2016 May;38(5):1151-7. doi: 10.1016/j.clinthera.2016.02.026. Epub 2016 Mar 24.

PMID:
27021606
49.

Hospitalizations among HIV controllers and persons with medically controlled HIV in the U.S. Military HIV Natural History Study.

Crowell TA, Ganesan A, Berry SA, Deiss RG, Agan BK, Okulicz JF; Infectious Disease Clinical Research Program (IDCRP) HIV Working Group.

J Int AIDS Soc. 2016 Mar 7;19(1):20524. doi: 10.7448/IAS.19.1.20524. eCollection 2016.

50.

Glutamine and hyperammonemic crises in patients with urea cycle disorders.

Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley J, Longo N, Nagamani SC, Berquist W, Gallagher RC, Harding CO, McCandless SE, Smith W, Schulze A, Marino M, Rowell R, Coakley DF, Mokhtarani M, Scharschmidt BF.

Mol Genet Metab. 2016 Jan;117(1):27-32. doi: 10.1016/j.ymgme.2015.11.005. Epub 2015 Nov 11.

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