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Artificial intelligence in medical genomics.

• Authors : Kamatani Y; Laboratory of Complex Trait Genomics, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan. .; Kaname T

Subjects: Artificial Intelligence* ; Genomics*/Genomics*/Genomics*/methods; Humans

• Source: Journal of human genetics [J Hum Genet] 2024 Oct; Vol. 69 (10), pp. 475. Date of Electronic Publication: 2024 Aug 27.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Classification and correlation of RYR2missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships

• Authors : Olubando, Damilola; Hopton, Claire; Eden, James

• Source: Journal of Human Genetics; June 2020, Vol. 65 Issue: 6 p531-539, 9p

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Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1and BRCA2

• Authors : Ahmadloo, Somayeh; Nakaoka, Hirofumi; Hayano, Takahide

• Source: Journal of Human Genetics; May 2017, Vol. 62 Issue: 5 p561-567, 7p

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The promise of whole-exome sequencing in medical genetics.

• Authors : Rabbani, Bahareh; Tekin, Mustafa; Mahdieh, Nejat

Subjects: MEDICAL genetics; NUCLEOTIDE sequence; GENETIC code

• Source: Journal of Human Genetics. Jan2014, Vol. 59 Issue 1, p5-15. 11p.

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Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.

• Authors : Rabbani, Bahareh; Mahdieh, Nejat; Hosomichi, Kazuyoshi

Subjects: GENE mapping; NUCLEOTIDE sequence; LINKAGE (Genetics)

• Source: Journal of Human Genetics. Oct2012, Vol. 57 Issue 10, p621-632. 12p. 2 Diagrams, 2 Charts.

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A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.

• Authors : Lv, Dan; Yang Luo; Wei Yang

Subjects: GENETIC mutation; PROTEIN-tyrosine kinases; GENETIC disorders

• Source: Journal of Human Genetics. Jul2009, Vol. 54 Issue 7, p422-425. 4p.

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Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

• Authors : Wei Yang; Lihua Cao; Wenli Liu

Subjects: ABNORMALITIES in the anatomical extremities; DYSPLASIA; HUMAN abnormalities

• Source: Journal of Human Genetics. Apr2008, Vol. 53 Issue 4, p368-374. 7p. 2 Color Photographs, 1 Diagram, 1 Graph.

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Association of TCF7L2 polymorphisms with susceptibility to type 2 diabetes in 4,087 Japanese subjects.

• Authors : Miyake, Kazuaki; Horikawa, Yukio; Hara, Kazuo

Subjects: TYPE 2 diabetes; DIET therapy; TRANSCRIPTION factors

• Source: Journal of Human Genetics. Feb2008, Vol. 53 Issue 2, p174-180. 7p. 4 Charts.

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The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage.

• Source: Journal of Human Genetics. Aug2006, Vol. 51 Issue 8, p652-664. 13p.

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Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.

• Authors : Orimo K; Mitsui J ...

• Source: Journal of human genetics [J Hum Genet] 2024 Dec; Vol. 69 (12), pp. 679-680.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print Cited Medium: Internet ISSN: 1435-232X

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