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

Year Number of Results
1993 1
1997 1
1998 2
2001 2
2002 1
2003 1
2004 2
2005 1
2006 1
2007 4
2008 4
2009 3
2010 7
2011 8
2012 9
2013 13
2014 11
2015 8
2016 6
2017 11
2018 10
2019 22
2020 23
2021 18
2022 11
2023 7
2024 8

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167 results

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Page 1
Urea Cycle Disorders Overview.
Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. Ah Mew N, et al. Among authors: gropman al. 2003 Apr 29 [updated 2017 Jun 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Apr 29 [updated 2017 Jun 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301396 Free Books & Documents. Review.
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Parikh S, et al. Among authors: gropman al. Genet Med. 2015 Sep;17(9):689-701. doi: 10.1038/gim.2014.177. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503498 Free PMC article. Review.
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Zielonka M, et al. Among authors: gropman al. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30. Ann Clin Transl Neurol. 2019. PMID: 31469252 Free PMC article.
Structural brain defects.
Whitehead MT, Fricke ST, Gropman AL. Whitehead MT, et al. Among authors: gropman al. Clin Perinatol. 2015 Jun;42(2):337-61, ix. doi: 10.1016/j.clp.2015.02.007. Epub 2015 Apr 4. Clin Perinatol. 2015. PMID: 26042908 Review.
MR Neuroimaging in Pediatric Inborn Errors of Metabolism.
Lai LM, Gropman AL, Whitehead MT. Lai LM, et al. Among authors: gropman al. Diagnostics (Basel). 2022 Mar 30;12(4):861. doi: 10.3390/diagnostics12040861. Diagnostics (Basel). 2022. PMID: 35453911 Free PMC article. Review.
Neuroimaging in mitochondrial disorders.
Gropman AL. Gropman AL. Neurotherapeutics. 2013 Apr;10(2):273-85. doi: 10.1007/s13311-012-0161-6. Neurotherapeutics. 2013. PMID: 23208728 Free PMC article. Review.
Klinefelter Syndrome and Turner Syndrome.
Samango-Sprouse C, Song SQ, Lin AE, Powell CM, Gropman AL. Samango-Sprouse C, et al. Among authors: gropman al. Pediatr Rev. 2021 May;42(5):272-274. doi: 10.1542/pir.2020-004028. Pediatr Rev. 2021. PMID: 33931514 No abstract available.
Neurologic considerations in propionic acidemia.
Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, Stagni K, Ueda K, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A, Gropman AL. Schreiber J, et al. Among authors: gropman al. Mol Genet Metab. 2012 Jan;105(1):10-5. doi: 10.1016/j.ymgme.2011.10.003. Epub 2011 Oct 19. Mol Genet Metab. 2012. PMID: 22078457 Review.
167 results