Lupski JR - Search Results

1

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y. Meng L, et al. Among authors: lupski jr. Ann Neurol. 2021 Apr;89(4):828-833. doi: 10.1002/ana.26019. Epub 2021 Feb 8. Ann Neurol. 2021. PMID: 33443317 Free article.

2

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schröder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR. Takashima H, et al. Among authors: lupski jr. Ann Neurol. 2002 Jun;51(6):709-15. doi: 10.1002/ana.10213. Ann Neurol. 2002. PMID: 12112076

3

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.

Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW. Franco LM, et al. Among authors: lupski jr. Eur J Hum Genet. 2010 Feb;18(2):258-61. doi: 10.1038/ejhg.2009.164. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844260 Free PMC article.

4

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Shinawi M, et al. Among authors: lupski jr. J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12. J Med Genet. 2010. PMID: 19914906 Free PMC article.

5

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Ramocki MB, et al. Among authors: lupski jr. Ann Neurol. 2009 Dec;66(6):771-82. doi: 10.1002/ana.21715. Ann Neurol. 2009. PMID: 20035514 Free PMC article.

6

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.

Carvalho CM, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR. Carvalho CM, et al. Among authors: lupski jr. Clin Genet. 2012 Jun;81(6):532-41. doi: 10.1111/j.1399-0004.2011.01716.x. Epub 2011 Jun 20. Clin Genet. 2012. PMID: 21623770 Free PMC article.

7

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.

Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG, Krantz ID, Deardorff MA, Lupski JR. Pehlivan D, et al. Among authors: lupski jr. Genet Med. 2012 Mar;14(3):313-22. doi: 10.1038/gim.2011.13. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241092 Free PMC article.

8

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW. Hanchard NA, et al. Among authors: lupski jr. BMC Med Genet. 2012 Aug 10;13:71. doi: 10.1186/1471-2350-13-71. BMC Med Genet. 2012. PMID: 22883432 Free PMC article.

9

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH. Bainbridge MN, et al. Among authors: lupski jr. Genome Med. 2013 Feb 5;5(2):11. doi: 10.1186/gm415. eCollection 2013. Genome Med. 2013. PMID: 23383720 Free PMC article.

10

Curcumin facilitates a transitory cellular stress response in Trembler-J mice.

Okamoto Y, Pehlivan D, Wiszniewski W, Beck CR, Snipes GJ, Lupski JR, Khajavi M. Okamoto Y, et al. Among authors: lupski jr. Hum Mol Genet. 2013 Dec 1;22(23):4698-705. doi: 10.1093/hmg/ddt318. Epub 2013 Jul 11. Hum Mol Genet. 2013. PMID: 23847051 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

902 results

Search Page