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Results by year

Year	Number of Results
2007	1
2008	1
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2012	3
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2014	8
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2017	30
2018	65
2019	88
2020	95
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598 results

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De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.

Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J. Douglas G, et al. Am J Med Genet A. 2018 Sep;176(9):1845-1851. doi: 10.1002/ajmg.a.40368. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055086

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.

Elbendary HM, Marafi D, Saad AK, Elhossini R, Duan R, Rafat K, Jhangiani SN, Gibbs RA, Pehlivan D, Calame DG, Posey JE, Lupski JR, Zaki MS. Elbendary HM, et al. Clin Genet. 2023 Sep;104(3):344-349. doi: 10.1111/cge.14348. Epub 2023 May 9. Clin Genet. 2023. PMID: 37157980 Review.

De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature.

Shen Y, Xu X, Chen J, Wang J, Dong G, Huang K, Fu J, Wu D, Wu W. Shen Y, et al. Front Pediatr. 2023 Apr 21;11:1097062. doi: 10.3389/fped.2023.1097062. eCollection 2023. Front Pediatr. 2023. PMID: 37152320 Free PMC article.

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.

Rumping L, Pouwels PJW, Wolf NI, Rehmann H, Wamelink MMC, Waisfisz Q, Jans JJM, Prinsen HCMT, van de Kamp JM, van Hasselt PM. Rumping L, et al. JIMD Rep. 2023 Feb 24;64(3):217-222. doi: 10.1002/jmd2.12359. eCollection 2023 May. JIMD Rep. 2023. PMID: 37151363 Free PMC article.

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.

Lyon GJ, Vedaie M, Beisheim T, Park A, Marchi E, Gottlieb L, Hsieh TC, Klinkhammer H, Sandomirsky K, Cheng H, Starr LJ, Preddy I, Tseng M, Li Q, Hu Y, Wang K, Carvalho A, Martinez F, Caro-Llopis A, Gavin M, Amble K, Krawitz P, Marmorstein R, Herr-Israel E. Lyon GJ, et al. Eur J Hum Genet. 2023 Jul;31(7):824-833. doi: 10.1038/s41431-023-01368-y. Epub 2023 May 2. Eur J Hum Genet. 2023. PMID: 37130971 Free PMC article.

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.

Pelgrims E, Lynch SA, Hannes L, Hoffer MJV, Melotte C, Van Haeringen A, Swillen A, Breckpot J. Pelgrims E, et al. Am J Med Genet A. 2023 Jul;191(7):1889-1899. doi: 10.1002/ajmg.a.63222. Epub 2023 May 2. Am J Med Genet A. 2023. PMID: 37129290

SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review.

Copelli MM, Pairet E, Atique-Tacla M, Vieira TP, Appenzeller S, Helaers R, Vikkula M, Gil-da-Silva-Lopes VL. Copelli MM, et al. Genes (Basel). 2023 Apr 8;14(4):882. doi: 10.3390/genes14040882. Genes (Basel). 2023. PMID: 37107640 Free PMC article. Review.

[Clinical characteristics and genetic analysis of two children with Autosomal dominant mental retardation type 21 due to variants of CTCF gene].

Lyu Y, Song F, Zhang K, Gao M, Ma J, Wang D, Wan Y, Liu Y, Gai Z. Lyu Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 May 10;40(5):543-546. doi: 10.3760/cma.j.cn511374-20220113-00032. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37102286 Chinese.

U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy.

Kittock CM, Saifeddine M, Straight L, Ward DI. Kittock CM, et al. Am J Med Genet A. 2023 Jul;191(7):1968-1972. doi: 10.1002/ajmg.a.63221. Epub 2023 Apr 24. Am J Med Genet A. 2023. PMID: 37092751

De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.

von Wintzingerode L, Ben-Zeev B, Cesario C, Chan KM, Depienne C, Elpeleg O, Iascone M, Kelley WV, Nassogne MC, Niceta M, Pezzani L, Rahner N, Revencu N, Bekheirnia MR, Santiago-Sim T, Tartaglia M, Thompson ML, Trivisano M, Hentschel J, Sticht H, Abou Jamra R, Oppermann H. von Wintzingerode L, et al. Genet Med. 2023 Jul;25(7):100859. doi: 10.1016/j.gim.2023.100859. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37092538

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