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

Year Number of Results
1880 1
1883 2
1960 1
1963 1
1966 1
1967 1
1968 1
1970 1
1971 1
1972 2
1973 1
1975 6
1976 2
1977 3
1978 4
1979 2
1980 1
1981 5
1982 2
1983 1
1984 3
1985 3
1986 3
1987 5
1988 1
1989 3
1990 4
1991 3
1992 1
1993 2
1994 2
1995 7
1996 5
1997 11
1998 6
1999 9
2000 7
2001 11
2002 11
2003 10
2004 9
2005 7
2006 4
2007 5
2008 8
2009 6
2010 10
2011 11
2012 12
2013 9
2014 12
2015 11
2016 19
2017 16
2018 18
2019 20
2020 26
2021 22
2022 27
2023 26
2024 7

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Publication date

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404 results

Results by year

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Page 1
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Srivastava S, et al. Among authors: holder jl jr. Am J Med Genet A. 2023 Aug;191(8):2015-2044. doi: 10.1002/ajmg.a.63312. Epub 2023 Jul 1. Am J Med Genet A. 2023. PMID: 37392087 Review.
Genetics in Epilepsy.
Martinez LA, Lai YC, Holder JL Jr, Anderson AE. Martinez LA, et al. Among authors: holder jl jr. Neurol Clin. 2021 Aug;39(3):743-777. doi: 10.1016/j.ncl.2021.05.005. Neurol Clin. 2021. PMID: 34215385 Review.
SYNGAP1-Related Intellectual Disability.
Holder JL Jr, Hamdan FF, Michaud JL. Holder JL Jr, et al. 2019 Feb 21. 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. 2019 Feb 21. 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: 30789692 Free Books & Documents. Review.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, … See abstract for full author list ➔ Radio FC, et al. Among authors: holder jl jr. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: holder jl jr. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
RNA-based translation activators for targeted gene upregulation.
Cao Y, Liu H, Lu SS, Jones KA, Govind AP, Jeyifous O, Simmons CQ, Tabatabaei N, Green WN, Holder JL Jr, Tahmasebi S, George AL Jr, Dickinson BC. Cao Y, et al. Among authors: holder jl jr. Nat Commun. 2023 Oct 26;14(1):6827. doi: 10.1038/s41467-023-42252-z. Nat Commun. 2023. PMID: 37884512 Free PMC article.
The Orphan G protein-coupled receptors GPR41 and GPR43 are activated by propionate and other short chain carboxylic acids.
Brown AJ, Goldsworthy SM, Barnes AA, Eilert MM, Tcheang L, Daniels D, Muir AI, Wigglesworth MJ, Kinghorn I, Fraser NJ, Pike NB, Strum JC, Steplewski KM, Murdock PR, Holder JC, Marshall FH, Szekeres PG, Wilson S, Ignar DM, Foord SM, Wise A, Dowell SJ. Brown AJ, et al. Among authors: holder jc. J Biol Chem. 2003 Mar 28;278(13):11312-9. doi: 10.1074/jbc.M211609200. Epub 2002 Dec 19. J Biol Chem. 2003. PMID: 12496283 Free article.
Zonisamide in the treatment of epilepsy.
Holder JL Jr, Wilfong AA. Holder JL Jr, et al. Expert Opin Pharmacother. 2011 Nov;12(16):2573-81. doi: 10.1517/14656566.2011.622268. Epub 2011 Oct 4. Expert Opin Pharmacother. 2011. PMID: 21967409 Review.
Burning plasma achieved in inertial fusion.
Zylstra AB, Hurricane OA, Callahan DA, Kritcher AL, Ralph JE, Robey HF, Ross JS, Young CV, Baker KL, Casey DT, Döppner T, Divol L, Hohenberger M, Le Pape S, Pak A, Patel PK, Tommasini R, Ali SJ, Amendt PA, Atherton LJ, Bachmann B, Bailey D, Benedetti LR, Berzak Hopkins L, Betti R, Bhandarkar SD, Biener J, Bionta RM, Birge NW, Bond EJ, Bradley DK, Braun T, Briggs TM, Bruhn MW, Celliers PM, Chang B, Chapman T, Chen H, Choate C, Christopherson AR, Clark DS, Crippen JW, Dewald EL, Dittrich TR, Edwards MJ, Farmer WA, Field JE, Fittinghoff D, Frenje J, Gaffney J, Gatu Johnson M, Glenzer SH, Grim GP, Haan S, Hahn KD, Hall GN, Hammel BA, Harte J, Hartouni E, Heebner JE, Hernandez VJ, Herrmann H, Herrmann MC, Hinkel DE, Ho DD, Holder JP, Hsing WW, Huang H, Humbird KD, Izumi N, Jarrott LC, Jeet J, Jones O, Kerbel GD, Kerr SM, Khan SF, Kilkenny J, Kim Y, Geppert Kleinrath H, Geppert Kleinrath V, Kong C, Koning JM, Kroll JJ, Kruse MKG, Kustowski B, Landen OL, Langer S, Larson D, Lemos NC, Lindl JD, Ma T, MacDonald MJ, MacGowan BJ, Mackinnon AJ, MacLaren SA, MacPhee AG, Marinak MM, Mariscal DA, Marley EV, Masse L, Meaney K, Meezan NB, Michel PA, Millot M, Milovich JL, Moody JD, Moore AS… See abstract for full author list ➔ Zylstra AB, et al. Among authors: holder jp. Nature. 2022 Jan;601(7894):542-548. doi: 10.1038/s41586-021-04281-w. Epub 2022 Jan 26. Nature. 2022. PMID: 35082418 Free PMC article.
Synovial osteochondromatosis.
Alexander JE, Holder JC, McConnell JR, Fontenot E Jr. Alexander JE, et al. Among authors: holder jc. Am Fam Physician. 1987 Feb;35(2):157-61. Am Fam Physician. 1987. PMID: 3812170
404 results