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Page 1
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: stevenson re. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583 Free PMC article.
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL. Celestino-Soper PB, et al. Among authors: stevenson re. Proc Natl Acad Sci U S A. 2012 May 22;109(21):7974-81. doi: 10.1073/pnas.1120210109. Epub 2012 May 7. Proc Natl Acad Sci U S A. 2012. PMID: 22566635 Free PMC article.
The contribution of de novo coding mutations to meningomyelocele.
Ha YJ, Nisal A, Tang I, Lee C, Jhamb I, Wallace C, Howarth R, Schroeder S, Vong KI, Meave N, Jiwani F, Barrows C, Lee S, Jiang N, Patel A, Bagga K, Banka N, Friedman L, Blanco FA, Yu S, Rhee S, Jeong HS, Plutzer I, Major MB, Benoit B, Poüs C, Heffner C, Kibar Z, Bot GM, Northrup H, Au KS, Strain M, Ashley-Koch AE, Finnell RH, Le JT, Meltzer HS, Araujo C, Machado HR, Stevenson RE, Yurrita A, Mumtaz S, Ahmed A, Khara MH, Mutchinick OM, Medina-Bereciartu JR, Hildebrandt F, Melikishvili G, Marwan AI, Capra V, Noureldeen MM, Salem AMS, Issa MY, Zaki MS, Xu L, Lee JE, Shin D, Alkelai A, Shuldiner AR, Kingsmore SF, Murray SA, Gee HY, Miller WT, Tolias KF, Wallingford JB; Spina Bifida Sequencing Consortium; Kim S, Gleeson JG. Ha YJ, et al. Among authors: stevenson re. Nature. 2025 May;641(8062):419-426. doi: 10.1038/s41586-025-08676-x. Epub 2025 Mar 26. Nature. 2025. PMID: 40140573
AGTR2 mutations in X-linked mental retardation.
Vervoort VS, Beachem MA, Edwards PS, Ladd S, Miller KE, de Mollerat X, Clarkson K, DuPont B, Schwartz CE, Stevenson RE, Boyd E, Srivastava AK. Vervoort VS, et al. Among authors: stevenson re. Science. 2002 Jun 28;296(5577):2401-3. doi: 10.1126/science.1072191. Science. 2002. PMID: 12089445
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. Mefford HC, et al. Among authors: stevenson re. N Engl J Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10. N Engl J Med. 2008. PMID: 18784092 Free PMC article.
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Bronicki LM, et al. Among authors: stevenson re. Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29. Eur J Hum Genet. 2015. PMID: 25920557 Free PMC article.
300 results