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Items: 1 to 50 of 137

1.

We must now put in place an updated, comprehensive newborn screening program for deaf and hard-of-hearing infants.

Howell RR.

Genet Med. 2019 Aug 15. doi: 10.1038/s41436-019-0638-3. [Epub ahead of print] No abstract available.

PMID:
31413371
2.

Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.

Baker M, Griggs R, Byrne B, Connolly AM, Finkel R, Grajkowska L, Haidet-Phillips A, Hagerty L, Ostrander R, Orlando L, Swoboda K, Watson M, Howell RR.

JAMA Neurol. 2019 May 20. doi: 10.1001/jamaneurol.2019.1206. [Epub ahead of print]

PMID:
31107518
3.

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.

Aartsma-Rus A, Hegde M, Ben-Omran T, Buccella F, Ferlini A, Gallano P, Howell RR, Leturcq F, Martin AS, Potulska-Chromik A, Saute JA, Schmidt WM, Sejersen T, Tuffery-Giraud S, Uyguner ZO, Witcomb LA, Yau S, Nelson SF.

J Pediatr. 2019 Jan;204:305-313.e14. doi: 10.1016/j.jpeds.2018.10.043. No abstract available.

4.

Including ELSI research questions in newborn screening pilot studies.

Goldenberg AJ, Lloyd-Puryear M, Brosco JP, Therrell B, Bush L, Berry S, Brower A, Bonhomme N, Bowdish B, Chrysler D, Clarke A, Crawford T, Goldman E, Hiner S, Howell RR, Orren D, Wilfond BS, Watson M; Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network.

Genet Med. 2019 Mar;21(3):525-533. doi: 10.1038/s41436-018-0101-x. Epub 2018 Aug 13.

PMID:
30100612
5.

MOVR-NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases.

Howell RR, Zuchner S.

Genet Med. 2019 Mar;21(3):536-538. doi: 10.1038/s41436-018-0086-5. Epub 2018 Jun 22. No abstract available.

PMID:
29934516
6.

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.

Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, Finkel R, Howell RR, Klinger K, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J.

J Neuromuscul Dis. 2018;5(2):145-158. doi: 10.3233/JND-180304.

7.

From a Single Child to Uniform Newborn Screening: My Lucky Life in Pediatric Medical Genetics.

Howell RR.

Annu Rev Genomics Hum Genet. 2018 Aug 31;19:1-14. doi: 10.1146/annurev-genom-083117-021611. Epub 2018 Mar 1.

PMID:
29494256
8.

Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment.

Ke Q, Zhao ZY, Griggs R, Wiley V, Connolly A, Kwon J, Qi M, Sheehan D, Ciafaloni E, Howell RR, Furu P, Sazani P, Narayana A, Gatheridge M.

World J Pediatr. 2017 Jun;13(3):197-201. doi: 10.1007/s12519-017-0036-3. Epub 2017 May 17. Review.

PMID:
28466241
9.

Fifty years of newborn screening.

Howell RR.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):4-5. doi: 10.1016/j.ymgme.2014.08.003. Epub 2014 Aug 14. No abstract available.

PMID:
25172235
10.

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM.

Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6.

PMID:
24667081
11.

Appropriateness of newborn screening for α1-antitrypsin deficiency.

Teckman J, Pardee E, Howell RR, Mannino D, Sharp RR, Brantly M, Wanner A, Lamson J; Alpha-1 Foundation Workshop Attendees.

J Pediatr Gastroenterol Nutr. 2014 Feb;58(2):199-203. doi: 10.1097/MPG.0000000000000196.

12.

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.

Camp KM, Lloyd-Puryear MA, Yao L, Groft SC, Parisi MA, Mulberg A, Gopal-Srivastava R, Cederbaum S, Enns GM, Ershow AG, Frazier DM, Gohagan J, Harding C, Howell RR, Regan K, Stacpoole PW, Venditti C, Vockley J, Watson M, Coates PM.

Mol Genet Metab. 2013 Aug;109(4):319-28. doi: 10.1016/j.ymgme.2013.05.008. Epub 2013 May 23.

13.

Strategies for implementing screening for critical congenital heart disease.

Kemper AR, Mahle WT, Martin GR, Cooley WC, Kumar P, Morrow WR, Kelm K, Pearson GD, Glidewell J, Grosse SD, Howell RR.

Pediatrics. 2011 Nov;128(5):e1259-67. doi: 10.1542/peds.2011-1317. Epub 2011 Oct 10.

PMID:
21987707
14.

A disservice to advances in newborn genetic screening: comment on Timmermans and Buchbinder.

Watson MS, Howell RR, Rinaldo P.

J Health Soc Behav. 2011 Jun;52(2):277-8; authors reply 279-81. doi: 10.1177/0022146511411435. No abstract available.

PMID:
21673149
15.

Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening.

Therrell BL Jr, Hannon WH, Bailey DB Jr, Goldman EB, Monaco J, Norgaard-Pedersen B, Terry SF, Johnson A, Howell RR.

Genet Med. 2011 Jul;13(7):621-4. doi: 10.1097/GIM.0b013e3182147639.

PMID:
21602691
16.

Secretary's Advisory Committee on Heritable Disorders in Newborns and Children response to the President's Council on Bioethics report: the changing moral focus of newborn screening.

Trotter TL, Fleischman AR, Howell RR, Lloyd-Puryear M; Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.

Genet Med. 2011 Apr;13(4):301-4. doi: 10.1097/GIM.0b013e318210655d. No abstract available.

PMID:
21407080
17.

Quality improvement of newborn screening in real time.

Howell RR.

Genet Med. 2011 Mar;13(3):205. doi: 10.1097/GIM.0b013e3182106570. No abstract available.

PMID:
21311337
18.

Carrier testing for spinal muscular atrophy.

Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, Heine D, Hobby K, Kaufmann P, Keiles S, MacKenzie A, Musci T, Prior T, Lloyd-Puryear M, Sugarman EA, Terry SF, Urv T, Wang C, Watson M, Yaron Y, Frosst P, Howell RR.

Genet Med. 2010 Oct;12(10):621-2. doi: 10.1097/GIM.0b013e3181ef6079.

19.
20.

Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children.

Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, Boyle C, Watson M, Trotter T, Terry SF, Howell RR; Advisory Committee on Heritable Disorders in Newborns and Children.

Genet Med. 2010 Mar;12(3):153-9. doi: 10.1097/GIM.0b013e3181d2af04.

PMID:
20154628
21.

The fate of newborn screening blood spots.

Grody WW, Howell RR.

Pediatr Res. 2010 Mar;67(3):237. doi: 10.1203/PDR.0b013e3181d00a48. No abstract available.

PMID:
20154576
23.

Improving newborn screening laboratory test ordering and result reporting using health information exchange.

Downs SM, van Dyck PC, Rinaldo P, McDonald C, Howell RR, Zuckerman A, Downing G.

J Am Med Inform Assoc. 2010 Jan-Feb;17(1):13-8. doi: 10.1197/jamia.M3295.

24.

Conference report: second conference of the Middle East and North Africa newborn screening initiative: Partnerships for sustainable newborn screening infrastructure and research opportunities.

Krotoski D, Namaste S, Raouf RK, El Nekhely I, Hindi-Alexander M, Engelson G, Hanson JW, Howell RR; MENA NBS Steering Committee.

Genet Med. 2009 Sep;11(9):663-8. doi: 10.1097/GIM.0b013e3181ab2277.

PMID:
19606054
25.

Systems to determine treatment effectiveness in newborn screening.

Howell RR.

Health Matrix Clevel. 2009 Winter;19(1):155-61. No abstract available.

PMID:
19459542
26.

Newborn screening for Krabbe disease: a model of cooperation.

Howell RR.

Pediatr Neurol. 2009 Apr;40(4):256-7. doi: 10.1016/j.pediatrneurol.2009.01.002. No abstract available.

PMID:
19302936
27.

Every child is priceless: debating effective newborn screening policy.

Howell RR.

Hastings Cent Rep. 2009 Jan-Feb;39(1):4-6; author reply 7-8. No abstract available.

PMID:
19213181
28.

Developing a national collaborative study system for rare genetic diseases.

Watson MS, Epstein C, Howell RR, Jones MC, Korf BR, McCabe ER, Simpson JL.

Genet Med. 2008 May;10(5):325-9. doi: 10.1097/GIM.0b013e31817b80fd.

PMID:
18496030
29.

Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children.

Kemper AR, Boyle CA, Aceves J, Dougherty D, Figge J, Fisch JL, Hinman AR, Greene CL, Kus CA, Miller J, Robertson D, Telfair J, Therrell B, Lloyd-Puryear M, van Dyck PC, Howell RR.

Genet Med. 2008 Apr;10(4):259-61. doi: 10.1097/GIM.0b013e31816b64f9. Erratum in: Genet Med. 2008 May;10(5):368. Telfair, Joseph [added].

PMID:
18414208
30.

Committee Report: advancing the current recommended panel of conditions for newborn screening.

Green NS, Rinaldo P, Brower A, Boyle C, Dougherty D, Lloyd-Puryear M, Mann MY, Howell RR; Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children.

Genet Med. 2007 Nov;9(11):792-6.

PMID:
18007148
31.

Structures for clinical follow-up: newborn screening.

Howell RR, Engelson G.

J Inherit Metab Dis. 2007 Aug;30(4):600-5. Epub 2007 Aug 10.

PMID:
17694355
32.

Introduction: newborn screening.

Howell RR.

Ment Retard Dev Disabil Res Rev. 2006;12(4):229. No abstract available.

PMID:
17183574
33.

Advisory committee on heritable disorders and genetic diseases in newborns and children.

Howell RR; Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children.

Ment Retard Dev Disabil Res Rev. 2006;12(4):313-5. No abstract available.

PMID:
17183571
34.

Challenges in drug development for muscle disease: a stakeholders' meeting.

Mendell JR, Csimma C, McDonald CM, Escolar DM, Janis S, Porter JD, Hesterlee SE, Howell RR.

Muscle Nerve. 2007 Jan;35(1):8-16.

PMID:
17068768
35.

Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome.

Howell RR, Byrne B, Darras BT, Kishnani P, Nicolino M, van der Ploeg A.

Genet Med. 2006 May;8(5):289-96.

PMID:
16702878
36.

Pompe disease diagnosis and management guideline.

Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS.

Genet Med. 2006 May;8(5):267-88. No abstract available. Erratum in: Genet Med. 2006 Jun;8(6):382. ACMG Work Group on Management of Pompe Disease [removed]; Case, Laura [corrected to Case, Laura E].

37.

We need expanded newborn screening.

Howell RR.

Pediatrics. 2006 May;117(5):1800-5. No abstract available.

PMID:
16651339
38.

The high price of false positives.

Howell RR.

Mol Genet Metab. 2006 Mar;87(3):180-3. Epub 2005 Dec 1.

PMID:
16325443
39.

Pompe disease in infants and children.

Kishnani PS, Howell RR.

J Pediatr. 2004 May;144(5 Suppl):S35-43. Review. No abstract available.

PMID:
15126982
40.

Will there be funds to support essential clinical genetic services?

Howell RR.

Genet Med. 2002 May-Jun;4(3):103-4. No abstract available.

PMID:
12180142
41.

Duty to re-contact.

Hirschhorn K, Fleisher LD, Godmilow L, Howell RR, Lebel RR, McCabe ER, McGinniss MJ, Milunsky A, Pelias MZ, Pyeritz RE, Sujansky E, Thompson BH, Zinberg RE.

Genet Med. 1999 May-Jun;1(4):171-2. No abstract available. Erratum in: Genet Med 1999 Jul-Aug;1(5):186.

PMID:
11258354
42.

Issues in implementing prenatal screening for cystic fibrosis: results of a working conference.

Haddow JE, Bradley LA, Palomaki GE, Doherty RA, Bernhardt BA, Brock DJ, Cheuvront B, Cunningham GC, Donnenfeld AE, Erickson JL, Erlich HA, Ferrie RM, FitzSimmons SC, Greene MF, Grody WW, Haddow PK, Harris H, Holmes LB, Howell RR, Katz M, Klinger KW, Kloza EM, LeFevre ML, Little S, Loeben G, McGovern M, Pyeritz RE, Rowley PT, Saiki RK, Short MP, Tabone J, Wald NJ, Wilker NL, Witt DR.

Genet Med. 1999 May-Jun;1(4):129-35. Erratum in: Genet Med 1999 Jul-Aug;1(5):193.

PMID:
11258347
43.

Some major milestones and future directions.

Howell RR.

Genet Med. 2000 Jul-Aug;2(4):255-8. No abstract available.

PMID:
11252711
44.

Digoxin dosing: an alternate approach.

Jones KW, Howell RR.

J S C Med Assoc. 1995 Mar;91(3):112-3. No abstract available.

PMID:
7739205
45.

Authors and conflict of interest.

Howell RR, Jones KW.

Am Fam Physician. 1995 Feb 1;51(2):343-4, 346. No abstract available.

PMID:
7840030
46.

Technique for obtaining visibility amplitudes from atmospherically disturbed interferograms.

Benson JA, Dyck HM, Howell RR.

Appl Opt. 1995 Jan 1;34(1):51-7. doi: 10.1364/AO.34.000051.

PMID:
20963084
47.

Prescription-writing skills questioned.

Howell RR, Jones KW.

Fam Med. 1994 Sep;26(8):472-3. No abstract available.

PMID:
7988801
48.

Prescription-writing errors and markers: the value of knowing the diagnosis.

Howell RR, Jones KW.

Fam Med. 1993 Feb;25(2):104-6.

PMID:
8458537
49.

Volcanic Activity on lo at the Time of the Ulysses Encounter.

Spencer JR, Howell RR, Clark BE, Klassen DR, O'connor D.

Science. 1992 Sep 11;257(5076):1507-10.

PMID:
17776157
50.

Populations at risk for drug-related admissions.

Howell RR, Jones KW.

Fam Med. 1991 Nov-Dec;23(8):567. No abstract available.

PMID:
1794664

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