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

Year Number of Results
1993 3
2004 1
2005 1
2007 1
2009 2
2010 5
2011 8
2012 3
2013 5
2014 6
2015 8
2016 9
2017 17
2018 12
2019 11
2020 19
2021 19
2022 21
2023 6
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Search Results

130 results
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Page 1
Schaaf-Yang Syndrome.
Schaaf CP, Marbach F. Schaaf CP, et al. 2021 Feb 11 [updated 2021 Nov 4]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2021 Feb 11 [updated 2021 Nov 4]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 33570896 Free Books & Documents. Review.
15q13.3 Recurrent Deletion.
van Bon BWM, Mefford HC, de Vries BBA, Schaaf CP. van Bon BWM, et al. Among authors: schaaf cp. 2010 Dec 23 [updated 2022 Nov 17]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2010 Dec 23 [updated 2022 Nov 17]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 21290787 Free Books & Documents. Review.
Reanalysis of Clinical Exome Sequencing Data.
Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Liu P, et al. Among authors: schaaf cp. N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. N Engl J Med. 2019. PMID: 31216405 Free PMC article. No abstract available.
Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated.
Ballout RA, El-Hattab AW, Schaaf CP, Cheung SW. Ballout RA, et al. Among authors: schaaf cp. 2016 Mar 10 [updated 2021 Feb 25]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2016 Mar 10 [updated 2021 Feb 25]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 26962617 Free Books & Documents. Review.
Mutations in ASH1L confer susceptibility to Tourette syndrome.
Liu S, Tian M, He F, Li J, Xie H, Liu W, Zhang Y, Zhang R, Yi M, Che F, Ma X, Zheng Y, Deng H, Wang G, Chen L, Sun X, Xu Y, Wang J, Zang Y, Han M, Wang X, Guan H, Ge Y, Wu C, Wang H, Liang H, Li H, Ran N, Yang Z, Huang H, Wei Y, Zheng X, Sun X, Feng X, Zheng L, Zhu T, Luo W, Chen Q, Yan Y, Huang Z, Jing Z, Guo Y, Zhang X, Schaaf CP, Xing J, Wang C, Yu F, Guan JS. Liu S, et al. Among authors: schaaf cp. Mol Psychiatry. 2020 Feb;25(2):476-490. doi: 10.1038/s41380-019-0560-8. Epub 2019 Oct 31. Mol Psychiatry. 2020. PMID: 31673123
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.
Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Lu HC, et al. Among authors: schaaf cp. Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13. Nat Genet. 2017. PMID: 28288114 Free PMC article.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP. Fountain MD, et al. Among authors: schaaf cp. Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25. Genet Med. 2019. PMID: 30679821 Free PMC article.
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Meng L, et al. Among authors: schaaf cp. JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4. JAMA Pediatr. 2017. PMID: 28973083 Free PMC article.
Autism genetics - an overview.
Yin J, Schaaf CP. Yin J, et al. Among authors: schaaf cp. Prenat Diagn. 2017 Jan;37(1):14-30. doi: 10.1002/pd.4942. Epub 2016 Nov 10. Prenat Diagn. 2017. PMID: 27743394 Review.
130 results