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

Year Number of Results
1946 1
1949 1
1951 1
1952 1
1953 5
1954 4
1955 10
1956 5
1957 4
1958 3
1959 5
1960 9
1961 6
1962 9
1963 2
1964 17
1965 1
1966 1
1967 11
1968 11
1969 18
1970 15
1971 8
1972 9
1973 4
1974 5
1975 8
1976 2
1977 13
1978 7
1979 4
1980 5
1981 7
1982 15
1983 9
1984 10
1985 6
1986 12
1987 9
1988 19
1989 13
1990 10
1991 13
1992 8
1993 9
1994 9
1995 8
1996 6
1997 9
1998 6
1999 7
2000 16
2001 3
2002 7
2003 5
2004 9
2005 15
2006 6
2007 7
2008 9
2009 9
2010 9
2011 9
2012 7
2013 19
2014 10
2015 8
2016 16
2017 7
2018 11
2019 14
2020 25
2021 25
2022 32
2023 18
2024 25
2025 21

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706 results

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Page 1
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Nizon M, et al. Among authors: gerard a. Genet Med. 2019 Dec;21(12):2713-2722. doi: 10.1038/s41436-019-0557-3. Epub 2019 Jun 3. Genet Med. 2019. PMID: 31155615 Free PMC article.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: gerard a. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
Methanobrevibacter oralis: a comprehensive review.
Pilliol V, Mahmoud Abdelwadoud B, Aïcha H, Lucille T, Gérard A, Hervé T, Michel D, Ghiles G, Elodie T. Pilliol V, et al. Among authors: gerard a. J Oral Microbiol. 2024 Nov 1;16(1):2415734. doi: 10.1080/20002297.2024.2415734. eCollection 2024. J Oral Microbiol. 2024. PMID: 39502191 Free PMC article. Review.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: gerard a. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Semmaphorin 3 A causes immune suppression by inducing cytoskeletal paralysis in tumour-specific CD8+ T cells.
Barnkob MB, Michaels YS, André V, Macklin PS, Gileadi U, Valvo S, Rei M, Kulicke C, Chen JL, Jain V, Woodcock VK, Colin-York H, Hadjinicolaou AV, Kong Y, Mayya V, Mazet JM, Mead GJ, Bull JA, Rijal P, Pugh CW, Townsend AR, Gérard A, Olsen LR, Fritzsche M, Fulga TA, Dustin ML, Jones EY, Cerundolo V. Barnkob MB, et al. Among authors: gerard a. Nat Commun. 2024 Apr 12;15(1):3173. doi: 10.1038/s41467-024-47424-z. Nat Commun. 2024. PMID: 38609390 Free PMC article.
MGA-related syndrome: A proposed novel disorder.
McGivern B, Morrow MM, Torti E, McWalter K, Wentzensen IM, Monaghan KG, Gerard A, Robak L, Chitayat D, Botsford C, Jurgensmeyer S, Leahy P, Kruszka P. McGivern B, et al. Among authors: gerard a. HGG Adv. 2025 Jan 9;6(1):100387. doi: 10.1016/j.xhgg.2024.100387. Epub 2024 Nov 26. HGG Adv. 2025. PMID: 39600096 Free PMC article.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: gerard a. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
706 results