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

Year Number of Results
1993 2
2001 1
2002 2
2003 4
2004 5
2005 2
2006 2
2007 3
2008 5
2009 5
2010 7
2011 11
2012 11
2013 17
2014 15
2015 10
2016 15
2017 21
2018 19
2019 29
2020 32
2021 33
2022 19
2023 0
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224 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, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2003 Apr 29 [updated 2017 Jun 22]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 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.
Smith-Magenis Syndrome.
Smith ACM, Boyd KE, Brennan C, Charles J, Elsea SH, Finucane BM, Foster R, Gropman A, Girirajan S, Haas-Givler B. Smith ACM, et al. Among authors: gropman a. 2001 Oct 22 [updated 2022 Mar 10]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2001 Oct 22 [updated 2022 Mar 10]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301487 Free Books & Documents. 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.
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.
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.
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network; Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleef… See abstract for full author list ➔ Johnson BV, et al. Biol Psychiatry. 2020 Jan 15;87(2):100-112. doi: 10.1016/j.biopsych.2019.05.028. Epub 2019 Jun 29. Biol Psychiatry. 2020. PMID: 31443933 Free PMC article.
Editorial: New Therapeutic Options for Rare Diseases.
Meyer S, Yeh EA, Brunner J, Semler O, Gropman A. Meyer S, et al. Among authors: gropman a. Front Pediatr. 2022 Jan 24;9:832395. doi: 10.3389/fped.2021.832395. eCollection 2021. Front Pediatr. 2022. PMID: 35141184 Free PMC article. No abstract available.
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.
Neuromonitoring in Rare Disorders of Metabolism.
Castillo-Pinto C, Sen K, Gropman A. Castillo-Pinto C, et al. Among authors: gropman a. Yale J Biol Med. 2021 Dec 29;94(4):645-655. eCollection 2021 Dec. Yale J Biol Med. 2021. PMID: 34970103 Free PMC article. Review.
224 results