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Advanced filters: Author: Ahmed N. Alkanaq Clear advanced filters

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes

Rare variant analyses identify a new type 2 diabetes risk allele near the LEP gene, which encodes leptin, and other risk alleles of intermediate penetrance in genes previously implicated in monogenic forms of diabetes.

Alicia Huerta-Chagoya
Philip Schroeder
Josep M. Mercader
ResearchOpen Access08 Oct 2024
Nature Genetics

Volume: 56, P: 2370-2379
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder

The significance of rare and de novo variants in bipolar disorder is not well understood. Here, the authors have analyzed whole exome/genome data from trios to identify deleterious de novo variants associated with bipolar disorder.

Masaki Nishioka
An-a Kazuno
Atsushi Takata
ResearchOpen Access18 Jun 2021
Nature Communications

Volume: 12, P: 1-15
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

Kohei Hamanaka
Yuji Sugawara
Naomichi Matsumoto
Research28 Nov 2018
European Journal of Human Genetics

Volume: 27, P: 378-383
Comparison of mitochondrial DNA variants detection using short- and long-read sequencing

Ahmed N. Alkanaq
Kohei Hamanaka
Naomichi Matsumoto
Research13 Aug 2019
Journal of Human Genetics

Volume: 64, P: 1107-1116
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

Kohei Hamanaka
Satoko Miyatake
Naomichi Matsumoto
Research23 Nov 2018
Genetics in Medicine

Volume: 21, P: 1629-1638