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

Year Number of Results
1988 1
1990 1
1991 2
1992 2
1993 1
1994 4
1995 1
1996 1
1997 2
1998 2
1999 2
2000 5
2001 3
2002 1
2003 3
2004 8
2005 5
2006 3
2007 14
2008 9
2009 16
2010 11
2011 7
2012 10
2013 21
2014 26
2015 20
2016 25
2017 22
2018 24
2019 11
2020 17
2021 20
2022 11
2023 11
2024 11

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314 results

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Page 1
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL. Kaminsky EB, et al. Among authors: collinson mn. Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9. Genet Med. 2011. PMID: 21844811 Free PMC article.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
The UCL-Lancet Commission on Migration and Health: the health of a world on the move.
Abubakar I, Aldridge RW, Devakumar D, Orcutt M, Burns R, Barreto ML, Dhavan P, Fouad FM, Groce N, Guo Y, Hargreaves S, Knipper M, Miranda JJ, Madise N, Kumar B, Mosca D, McGovern T, Rubenstein L, Sammonds P, Sawyer SM, Sheikh K, Tollman S, Spiegel P, Zimmerman C; UCL–Lancet Commission on Migration and Health. Abubakar I, et al. Lancet. 2018 Dec 15;392(10164):2606-2654. doi: 10.1016/S0140-6736(18)32114-7. Epub 2018 Dec 5. Lancet. 2018. PMID: 30528486 Free PMC article. Review.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study; Banka S. Faundes V, et al. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276005 Free PMC article.
Inv(10)(p11.2q21.2), a variant chromosome.
Collinson MN, Fisher AM, Walker J, Currie J, Williams L, Roberts P. Collinson MN, et al. Hum Genet. 1997 Dec;101(2):175-80. doi: 10.1007/s004390050609. Hum Genet. 1997. PMID: 9402964 Review.
Biofouling-Resistant Platinum Bimetallic Alloys.
Farghaly AA, Khan RK, Collinson MM. Farghaly AA, et al. Among authors: collinson mm. ACS Appl Mater Interfaces. 2018 Jun 27;10(25):21103-21112. doi: 10.1021/acsami.8b02900. Epub 2018 Jun 15. ACS Appl Mater Interfaces. 2018. PMID: 29906086
Response to Prakash et al.
Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Yaghootkar H, Turner CLS, Donohoe ME, Brooke AM, Collinson MN, Freathy RM, Weedon MN, Frayling TM, Murray A. Tuke MA, et al. Among authors: collinson mn. Genet Med. 2019 Aug;21(8):1884-1885. doi: 10.1038/s41436-018-0412-y. Epub 2018 Dec 21. Genet Med. 2019. PMID: 30573795 Free article. No abstract available.
314 results