Jonathan D J Labonne
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Explore the profile of Jonathan D J Labonne including associated specialties, affiliations and a list of published articles.
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11
Citations
143
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Recent Articles
1.
Doll J, Vona B, Schnapp L, Ruschendorf F, Khan I, Khan S, et al.
Genes (Basel)
. 2020 Nov;
11(11).
PMID: 33187236
The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably according to the population background. Pakistan and other countries with high rates of consanguineous marriages have served...
2.
Labonne J, Driessen T, Harris M, Kong I, Brakta S, Theisen J, et al.
J Clin Med
. 2020 Jan;
9(1).
PMID: 31963867
We report a genomic and phenotypic delineation for two chromosome regions with candidate genes for syndromic intellectual disability at 12q12 and Xp22.31, segregating independently in one family with four affected...
3.
Shore J, Hamam H, Chafe P, Labonne J, Henning P, McCubbin A
New Phytol
. 2019 May;
224(3):1316-1329.
PMID: 31144315
Distyly is an intriguing floral adaptation that increases pollen transfer precision and restricts inbreeding. It has been a model system in evolutionary biology since Darwin. Although the S-locus determines the...
4.
Ha K, Anand P, Lee J, Jones J, Kim C, Bertola D, et al.
Genes (Basel)
. 2016 Nov;
7(11).
PMID: 27834868
Most histone methyltransferases (HMTase) harbor a predicted Su(var)3-9, Enhancer-of-zeste, Trithorax (SET) domain, which transfers a methyl group to a lysine residue in their substrates. Mutations of the SET domains were...
5.
Labonne J, Graves T, Shen Y, Jones J, Kong I, Layman L, et al.
BMC Neurol
. 2016 Aug;
16:132.
PMID: 27506666
Background: Among the 21 annotated genes at Xq22.2, PLP1 is the only known gene involved in Xq22.2 microdeletion and microduplication syndromes with intellectual disability. Using an atypical microdeletion, which does...
6.
Labonne J, Lee K, Iwase S, Kong I, Diamond M, Layman L, et al.
Hum Genet
. 2016 Apr;
135(7):757-71.
PMID: 27106595
Microdeletion syndromes are frequent causes of neuropsychiatric disorders leading to intellectual disability as well as autistic features accompanied by epilepsy and craniofacial anomalies. From comparative deletion mapping of the smallest...
7.
Labonne J, Shen Y, Kong I, Diamond M, Layman L, Kim H
Mol Cytogenet
. 2016 Mar;
9:24.
PMID: 26997977
Background: While chromosome 1 is the largest chromosome in the human genome, less than two dozen cases of interstitial microdeletions in the short arm have been documented. More than half...
8.
Labonne J, Vogt J, Reali L, Kong I, Layman L, Kim H
Am J Med Genet A
. 2015 Sep;
167A(12):3011-8.
PMID: 26333423
In Potocki-Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when deletions are at least 2.1 Mb in size at 11p11.2. The PSS-associated genes EXT2 and ALX4, together with PHF21A,...
9.
Labonne J, Chung M, Jones J, Anand P, Wenzel W, Iacoboni D, et al.
Gene
. 2015 Aug;
575(1):42-7.
PMID: 26297997
Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant disorder characterized by diverse phenotypes including intellectual disability, facial and digital anomalies. Loss-of-function mutations in the Ribosomal Protein S6 Kinase Polypeptide 3 (RPS6KA3)...
10.
Labonne J, Dorweiler J, McGinnis K
Epigenetics
. 2013 Mar;
8(4):398-408.
PMID: 23538550
Nucleosomes facilitate compaction of DNA within the confines of the eukaryotic nucleus. This packaging of DNA and histone proteins must accommodate cellular processes, such as transcription and DNA replication. The...