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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 13
2024 17

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250 results

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Page 1
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
Sen K, Izem R, Long Y, Jiang J, Konczal LL, McCarter RJ; Members of the Urea Cycle Disorders Consortium (UCDC); Gropman AL, Bedoyan JK. Sen K, et al. Among authors: gropman al. Mol Genet Genomic Med. 2024 Apr;12(4):e2443. doi: 10.1002/mgg3.2443. Mol Genet Genomic Med. 2024. PMID: 38634223 Free PMC article. Review.
The Brain Gene Registry: a data snapshot.
Baldridge D, Kaster L, Sancimino C, Srivastava S, Molholm S, Gupta A, Oh I, Lanzotti V, Grewal D, Riggs ER, Savatt JM, Hauck R, Sveden A; Brain Gene Registry Consortium; Constantino JN, Piven J, Gurnett CA, Chopra M, Hazlett H, Payne PRO. Baldridge D, et al. J Neurodev Disord. 2024 Apr 17;16(1):17. doi: 10.1186/s11689-024-09530-3. J Neurodev Disord. 2024. PMID: 38632549 Free PMC article.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, García-Cazorla À, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. Tokatly Latzer I, et al. Among authors: gropman al. Mol Genet Metab. 2024 Mar 4;142(1):108363. doi: 10.1016/j.ymgme.2024.108363. Online ahead of print. Mol Genet Metab. 2024. PMID: 38452608
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey.
Macaluso M, Rothenberg ME, Ferkol T, Kuhnell P, Kaminski HJ, Kimberlin DW, Benatar M, Chehade M; Principal Investigators of the Rare Diseases Clinical Research Network – Cycle 4. Macaluso M, et al. JMIR Public Health Surveill. 2024 Feb 14;10:e48430. doi: 10.2196/48430. JMIR Public Health Surveill. 2024. PMID: 38354030 Free PMC article.
250 results