- Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss
2023/09/06 by Nicole Cesarato, Agnes Schwieger‐Briel, Agnes Schwieger-Briel +36 · 5 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Biology #Cohort #DNA sequencing #Exome #Exome sequencing #Gene #Genetics #Hair Growth and Disorders #Hair loss #Haplotype #Internal medicine #Linkage disequilibrium #Medicine #Phenotype #Population #Sanger sequencing #Skin and Cellular Biology Research #melanin and skin pigmentation
- Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
2020/10/15 by Gianina Ravenscroft, Gina Ravenscroft, Joshua S Clayton +29 · 25 citations
Medicine · Neuroscience · #Arthrogryposis #Arthrogryposis multiplex congenita #Bioinformatics #Biology #Cerebral Palsy and Movement Disorders #Exome #Exome sequencing #Gene #Genetics #Genome #Genomics #Hereditary Neurological Disorders #Medical genetics #Mutation #Neurogenetic and Muscular Disorders Research #Phenotype #Proband
- A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
2020/07/06 by Suzanne E de Bruijn, Suzanne E. de Bruijn, Jeroen J. Smits +23 · 11 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Audiology #Biology #Congenital hearing loss #Exome #Exome sequencing #Gene #Genetic heterogeneity #Genetics #Genomics and Rare Diseases #Hearing loss #Hearing, Cochlea, Tinnitus, Genetics #Medicine #Phenotype #Sensorineural hearing loss #Vestibular and auditory disorders
- Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response
2018/03/31 by Daniel Temko, Inge C Van Gool, Inge C. van Gool +30 · 26 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Biology #Cancer #Cancer Genomics and Diagnostics #Cancer research #Carcinogenesis #Colorectal cancer #DNA #DNA damage #DNA mismatch repair #Exome #Exome sequencing #Exonuclease #Gene #Genetic factors in colorectal cancer #Genetics #Genome instability #Germline mutation #Microsatellite #Microsatellite instability #Monoclonal and Polyclonal Antibodies Research #Mutation #Mutation rate #Somatic cell
- Exome sequencing reveals the genetic landscape and frequent inactivation of PCDHB3 in Chinese rectal cancers
2018/03/15 by Wen Ye, Ye Wen, Shaoping Ling +22 · 9 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Cancer #Cancer research #Cancer-related molecular mechanisms research #Colorectal cancer #CpG site #DNA methylation #Exome #Exome sequencing #Gene #Gene expression #Genetic factors in colorectal cancer #Genetics #Internal medicine #Medicine #Mutation #NF-κB Signaling Pathways #Population
- Genome annotation for clinical genomic diagnostics: strengths and weaknesses
2017/05/30 by Charles A. Steward, Alasdair Parker, Berge A. Minassian +3 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Genomic variations and chromosomal abnormalities #Genomics and Phylogenetic Studies #Annotation #Genome #Computational biology #Genome project #Exome #Pseudogene #Exome sequencing #Identification (biology) #Human genome #DNA sequencing #Genomics #Gene Annotation #Human genetics #Genetics #Biology #Gene #Mutation
- Rare variants in optic disc area gene CARD 10 enriched in primary open‐angle glaucoma
2016/10/03 by Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma +15 · 1 citation
Medicine · Biochemistry, Genetics and Molecular Biology · #Glaucoma and retinal disorders #Retinal Development and Disorders #Mitochondrial Function and Pathology #Genome-wide association study #Exome sequencing #Myocilin #Genetics #Exome #Glaucoma #Candidate gene #Biology #Open angle glaucoma #Genetic association #Medicine #Gene #Single-nucleotide polymorphism #Genotype #Phenotype #Ophthalmology
- Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
2016/07/29 by Ronja Adam, R. Adam, Isabel Spier +31 · 26 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Cancer research #Colorectal Cancer Treatments and Studies #Digestive system and related health #Exome #Exome sequencing #Gene #Genetic factors in colorectal cancer #Genetics #Germline #Germline mutation #Mutation
- The genetic architecture of type 2 diabetes
2016/07/11 by Christian Fuchsberger, Jason Flannick, Tanya M. Teslovich +314 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Allele #Allele frequency #Bioinformatics and Genomic Networks #Biology #DNA sequencing #Diabetes mellitus #Epigenetics and DNA Methylation #Exome #Exome sequencing #Gene #Genetic Associations and Epidemiology #Genetic architecture #Genetic association #Genetics #Genome #Genome-wide association study #Genotype #Genotyping #Heritability #Imputation (statistics) #Minor allele frequency #Missing data #Missing heritability problem #Mutation #Quantitative trait locus #Single-nucleotide polymorphism #Type 2 diabetes #Whole genome sequencing
- Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay
2013/09/26 by Moeenaldeen D. Al-Sayed, Moeenaldeen AlSayed, Hamad Alzaidan +21 · 26 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Biology #Disease gene identification #Exome #Exome sequencing #Gene #Genetics #Hypotonia #Ion Channels and Receptors #Ion Transport and Channel Regulation #Ion channel regulation and function #Medicine #Missense mutation #Mutation
- Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes
2012/08/30 by Mohammed A. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed +5 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Bioinformatics #Biology #Candidate gene #Connexins and lens biology #Disease #Exome #Exome sequencing #Gene #Genetic analysis #Genetics #Intraocular Surgery and Lenses #Medicine #Mutation #Ocular Disorders and Treatments #Pathology #Population
- Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies
2012/08/01 by Seunggeun Lee, Mary J. Emond, Michael J. Bamshad +8 · 38 citations
Biochemistry, Genetics and Molecular Biology · Mathematics · Psychology · #Association (psychology) #Association test #Biology #Computational biology #Computer science #Data mining #Exome #Exome sequencing #Genetic Associations and Epidemiology #Genetic association #Genetics #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases #Genotype #Mathematics #Phenotype #Psychology #Sample size determination #Single-nucleotide polymorphism #Statistical power #Statistics #Type I and type II errors
- Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
2012/04/01 by Hanan E. Shamseldin, Hanan E Shamseldin, Muneera Alshammari +12 · 32 citations
Biochemistry, Genetics and Molecular Biology · Energy · Neuroscience · #Biology #Candidate gene #Exome #Exome sequencing #Gene #Genetics #Metalloenzymes and iron-sulfur proteins #Mitochondrial DNA #Mitochondrial Function and Pathology #Mitochondrial disease #Mutation #Neurological diseases and metabolism #Proband
- Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
2011/01/25 by Pia Ostergaard, Pia Østergaard, Michael A Simpson +15 · 28 citations
Medicine · #Allele #Biology #Exome #Exome sequencing #Gene #Genetic heterogeneity #Genetic linkage #Genetics #Haplotype #Locus (genetics) #Lymphatic Disorders and Treatments #Lymphatic System and Diseases #Pedigree chart #Phenotype #Positional cloning #Vascular Malformations and Hemangiomas