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Page 1
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. Mucha BE, et al. Among authors: nicholl j. Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245510 Free article.
Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
Nicholl J, Waters W, Suwalski S, Brown S, Hull Y, Harbord MG, Entwistle J, Thompson S, Clark D, Pridmore C, Haan E, Barnett C, McGregor L, Liebelt J, Thompson EM, Friend K, Bain SM, Yu S, Mulley JC. Nicholl J, et al. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):24-35. doi: 10.1002/ajmg.b.32114. Epub 2012 Nov 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23184456
Rare copy number variation in cerebral palsy.
McMichael G, Girirajan S, Moreno-De-Luca A, Gecz J, Shard C, Nguyen LS, Nicholl J, Gibson C, Haan E, Eichler E, Martin CL, MacLennan A. McMichael G, et al. Among authors: nicholl j. Eur J Hum Genet. 2014 Jan;22(1):40-5. doi: 10.1038/ejhg.2013.93. Epub 2013 May 22. Eur J Hum Genet. 2014. PMID: 23695280 Free PMC article.
Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
Nicholl J, Waters W, Mulley JC, Suwalski S, Brown S, Hull Y, Barnett C, Haan E, Thompson EM, Liebelt J, Mcgregor L, Harbord MG, Entwistle J, Munt C, White D, Chitti A, Baulderstone D, Ketteridge D; Array Referral Consortium; Friend K, Bain SM, Yu S. Nicholl J, et al. Pathology. 2014 Jan;46(1):41-5. doi: 10.1097/PAT.0000000000000043. Pathology. 2014. PMID: 24300712
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J. Kumar R, et al. Among authors: nicholl j. Hum Mol Genet. 2015 Dec 20;24(25):7171-81. doi: 10.1093/hmg/ddv414. Epub 2015 Oct 6. Hum Mol Genet. 2015. PMID: 26443594
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. Gabriele M, et al. Among authors: nicholl j. Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006. Am J Hum Genet. 2017. PMID: 28575647 Free PMC article.
350 results