Labonne JD - Search Results

1

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.

Labonne JD, Graves TD, Shen Y, Jones JR, Kong IK, Layman LC, Kim HG. Labonne JD, et al. BMC Neurol. 2016 Aug 9;16:132. doi: 10.1186/s12883-016-0642-z. BMC Neurol. 2016. PMID: 27506666 Free PMC article.

2

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH. Kim HG, et al. Among authors: labonne jd. Mol Autism. 2019 Oct 22;10:35. doi: 10.1186/s13229-019-0286-0. eCollection 2019. Mol Autism. 2019. PMID: 31649809 Free PMC article.

3

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.

Labonne JD, Vogt J, Reali L, Kong IK, Layman LC, Kim HG. Labonne JD, et al. Am J Med Genet A. 2015 Dec;167A(12):3011-8. doi: 10.1002/ajmg.a.37344. Epub 2015 Sep 3. Am J Med Genet A. 2015. PMID: 26333423

4

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.

Labonne JD, Lee KH, Iwase S, Kong IK, Diamond MP, Layman LC, Kim CH, Kim HG. Labonne JD, et al. Hum Genet. 2016 Jul;135(7):757-71. doi: 10.1007/s00439-016-1668-4. Epub 2016 Apr 22. Hum Genet. 2016. PMID: 27106595

5

Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.

Labonne JD, Chung MJ, Jones JR, Anand P, Wenzel W, Iacoboni D, Layman LC, Kim HG. Labonne JD, et al. Gene. 2016 Jan 1;575(1):42-7. doi: 10.1016/j.gene.2015.08.032. Epub 2015 Aug 20. Gene. 2016. PMID: 26297997

6

Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.

Labonne JD, Shen Y, Kong IK, Diamond MP, Layman LC, Kim HG. Labonne JD, et al. Mol Cytogenet. 2016 Mar 17;9:24. doi: 10.1186/s13039-016-0234-z. eCollection 2016. Mol Cytogenet. 2016. PMID: 26997977 Free PMC article.

7

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.

Ha K, Anand P, Lee JA, Jones JR, Kim CA, Bertola DR, Labonne JD, Layman LC, Wenzel W, Kim HG. Ha K, et al. Among authors: labonne jd. Genes (Basel). 2016 Nov 9;7(11):96. doi: 10.3390/genes7110096. Genes (Basel). 2016. PMID: 27834868 Free PMC article.

8

Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31.

Labonne JDJ, Driessen TM, Harris ME, Kong IK, Brakta S, Theisen J, Sangare M, Layman LC, Kim CH, Lim J, Kim HG. Labonne JDJ, et al. J Clin Med. 2020 Jan 19;9(1):274. doi: 10.3390/jcm9010274. J Clin Med. 2020. PMID: 31963867 Free PMC article.

9

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.

Doll J, Vona B, Schnapp L, Rüschendorf F, Khan I, Khan S, Muhammad N, Alam Khan S, Nawaz H, Khan A, Ahmad N, Kolb SM, Kühlewein L, Labonne JDJ, Layman LC, Hofrichter MAH, Röder T, Dittrich M, Müller T, Graves TD, Kong IK, Nanda I, Kim HG, Haaf T. Doll J, et al. Among authors: labonne jdj. Genes (Basel). 2020 Nov 11;11(11):1329. doi: 10.3390/genes11111329. Genes (Basel). 2020. PMID: 33187236 Free PMC article.

10

Positional cloning of the s haplotype determining the floral and incompatibility phenotype of the long-styled morph of distylous Turnera subulata.

Labonne JD, Shore JS. Labonne JD, et al. Mol Genet Genomics. 2011 Feb;285(2):101-11. doi: 10.1007/s00438-010-0590-z. Epub 2010 Nov 27. Mol Genet Genomics. 2011. PMID: 21113621

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