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Items: 1 to 20 of 38

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 Nov;21(11):2439-2441. doi: 10.1038/s41436-019-0638-3. Epub 2019 Aug 15. 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

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