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

Year Number of Results
1955 2
1963 1
1965 4
1966 1
1969 1
1970 2
1973 1
1975 1
1982 2
1984 1
1985 5
1986 1
1987 2
1989 2
1990 5
1991 3
1992 4
1993 2
1994 4
1995 1
1996 3
1997 3
1998 5
1999 1
2000 6
2001 7
2002 9
2004 2
2005 17
2006 11
2007 9
2008 16
2009 8
2010 6
2011 27
2012 21
2013 27
2014 22
2015 29
2016 1
2017 2
2018 1
2019 2
2020 1
2021 4
2022 4
2023 3
2024 14
2025 1

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301 results

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Page 1
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. Chen Y, et al. Among authors: mendez hr. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. Update in: Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7 PMID: 38645094 Free PMC article. Updated. Preprint.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche … See abstract for full author list ➔ Chen Y, et al. Among authors: mendez hr. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
Noonan syndrome: a review.
Mendez HM, Opitz JM. Mendez HM, et al. Am J Med Genet. 1985 Jul;21(3):493-506. doi: 10.1002/ajmg.1320210312. Am J Med Genet. 1985. PMID: 3895929 Review.
Rio Negro Virus Infection, Bolivia, 2021.
Loayza Mafayle R, Morales-Betoulle ME, Whitmer S, Cossaboom C, Revollo J, Loayza NM, Méndez HA, Chuquimia Valdez JA, Subieta FA, Espinoza Morales MX, Canedo Sánchez MV, Romero MER, Brault AC, Hugues HR, Mendez-Rico J, Malenfant JH, Shoemaker T, Klena JD, Montgomery JM, Marquina Salas JD. Loayza Mafayle R, et al. Among authors: mendez ha. Emerg Infect Dis. 2023 Aug;29(8):1705-1708. doi: 10.3201/eid2908.221885. Emerg Infect Dis. 2023. PMID: 37486719 Free PMC article.
Lipocalin 2 mediates appetite suppression during pancreatic cancer cachexia.
Olson B, Zhu X, Norgard MA, Levasseur PR, Butler JT, Buenafe A, Burfeind KG, Michaelis KA, Pelz KR, Mendez H, Edwards J, Krasnow SM, Grossberg AJ, Marks DL. Olson B, et al. Among authors: mendez h. Nat Commun. 2021 Apr 6;12(1):2057. doi: 10.1038/s41467-021-22361-3. Nat Commun. 2021. PMID: 33824339 Free PMC article.
Ring Y chromosome.
Mendez H. Mendez H. Am J Med Genet. 1986 May;24(1):201-2. doi: 10.1002/ajmg.1320240126. Am J Med Genet. 1986. PMID: 3706407 No abstract available.
Hepatic signal transducer and activator of transcription-3 signalling drives early-stage pancreatic cancer cachexia via suppressed ketogenesis.
Arneson-Wissink PC, Mendez H, Pelz K, Dickie J, Bartlett AQ, Worley BL, Krasnow SM, Eil R, Grossberg AJ. Arneson-Wissink PC, et al. Among authors: mendez h. J Cachexia Sarcopenia Muscle. 2024 Jun;15(3):975-988. doi: 10.1002/jcsm.13466. Epub 2024 Apr 17. J Cachexia Sarcopenia Muscle. 2024. PMID: 38632714 Free PMC article.
The ebb and flow of cardiac lymphatics: a tidal wave of new discoveries.
Harris NR, Bálint L, Dy DM, Nielsen NR, Méndez HG, Aghajanian A, Caron KM. Harris NR, et al. Among authors: mendez hg. Physiol Rev. 2023 Jan 1;103(1):391-432. doi: 10.1152/physrev.00052.2021. Epub 2022 Aug 11. Physiol Rev. 2023. PMID: 35953269 Free PMC article. Review.
The neurofibromatosis-Noonan syndrome.
Mendez HM. Mendez HM. Am J Med Genet. 1985 Jul;21(3):471-6. doi: 10.1002/ajmg.1320210309. Am J Med Genet. 1985. PMID: 3927725 No abstract available.
301 results