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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2009 1
2010 4
2012 4
2013 4
2014 2
2015 6
2016 6
2017 6
2018 3
2019 9
2020 7
2021 6
2022 4
2023 3
2024 1

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55 results

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Page 1
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free article.
Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists.
Hallquist MLG, Borensztein MJ, Coughlin CR 2nd, Buchanan AH, Andrew Faucett W, Peay HL, Smith ME, Tricou EP, Uhlmann WR, Wain KE, Ormond KE. Hallquist MLG, et al. Among authors: coughlin cr 2nd. Eur J Hum Genet. 2023 Oct;31(10):1165-1174. doi: 10.1038/s41431-023-01401-0. Epub 2023 Jun 12. Eur J Hum Genet. 2023. PMID: 37308598
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM Jr, van Karnebeek C; International PDE Consortium. Coughlin CR, et al. Neurology. 2022 Dec 5;99(23):e2627-e2636. doi: 10.1212/WNL.0000000000201222. Neurology. 2022. PMID: 36008148 Free PMC article.
Clinical Reasoning: Pediatric Seizures of Unknown Cause.
Tseng LA, Hoytema van Konijnenburg EMM, Longo N, Andrews A, van Wegberg A, Coene KLM, Coughlin CR 2nd, van Karnebeek CDM. Tseng LA, et al. Among authors: coughlin cr 2nd. Neurology. 2022 Jun 14;98(24):1023-1028. doi: 10.1212/WNL.0000000000200711. Epub 2022 Apr 25. Neurology. 2022. PMID: 35470136
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM Jr, Coughlin CR 2nd, van Karnebeek CDM. Tseng LA, et al. Among authors: coughlin cr 2nd. Mol Genet Metab. 2022 Apr;135(4):350-356. doi: 10.1016/j.ymgme.2022.02.005. Epub 2022 Feb 17. Mol Genet Metab. 2022. PMID: 35279367
A case for newborn screening for pyridoxine-dependent epilepsy.
Coughlin CR 2nd, Tseng LA, van Karnebeek CDM. Coughlin CR 2nd, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006197. doi: 10.1101/mcs.a006197. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35217564 Free PMC article.
Defining the Critical Components of Informed Consent for Genetic Testing.
Ormond KE, Borensztein MJ, Hallquist MLG, Buchanan AH, Faucett WA, Peay HL, Smith ME, Tricou EP, Uhlmann WR, Wain KE, Coughlin CR 2nd, On Behalf Of The Clinical Genome CADRe Workgroup. Ormond KE, et al. Among authors: coughlin cr 2nd. J Pers Med. 2021 Dec 5;11(12):1304. doi: 10.3390/jpm11121304. J Pers Med. 2021. PMID: 34945775 Free PMC article.
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.
Kripps KA, Baker PR 2nd, Thomas JA, Skillman HE, Bernstein L, Gaughan S, Burns C, Coughlin CR 2nd, McCandless SE, Larson AA, Kochar A, Stillman CF, Wymore EM, Hendricks EG, Woontner M, Van Hove JLK. Kripps KA, et al. Among authors: coughlin cr 2nd. Mol Genet Metab. 2021 Jul;133(3):231-241. doi: 10.1016/j.ymgme.2021.04.007. Epub 2021 May 7. Mol Genet Metab. 2021. PMID: 33985889 Free article. Review.
Application of a framework to guide genetic testing communication across clinical indications.
Hallquist MLG, Tricou EP, Ormond KE, Savatt JM, Coughlin CR 2nd, Faucett WA, Hercher L, Levy HP, O'Daniel JM, Peay HL, Stosic M, Smith M, Uhlmann WR, Wand H, Wain KE, Buchanan AH. Hallquist MLG, et al. Among authors: coughlin cr 2nd. Genome Med. 2021 Apr 29;13(1):71. doi: 10.1186/s13073-021-00887-x. Genome Med. 2021. PMID: 33926532 Free PMC article.
55 results