Human Genetics
Papers 12802
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#1M. Okubo (UTokyo: University of Tokyo)H-Index: 3
#2Satoru NoguchiH-Index: 39
Last.Ichizo NishinoH-Index: 64
view all 7 authors...
Duchenne muscular dystrophy (DMD) is caused by a nonsense or frameshift mutation in the DMD gene, while its milder form, Becker muscular dystrophy (BMD) is caused by an in-frame deletion/duplication or a missense mutation. Interestingly, however, some patients with a nonsense mutation exhibit BMD phenotype, which is mostly attributed to the skipping of the exon containing the nonsense mutation, resulting in in-frame deletion. This study aims to find BMD cases with nonsense/frameshift mutations i...
#1Veronica Nobile (UCSC: Catholic University of the Sacred Heart)H-Index: 1
#2Federica Palumbo (UCSC: Catholic University of the Sacred Heart)H-Index: 2
Last.Elisabetta Tabolacci (UCSC: Catholic University of the Sacred Heart)H-Index: 17
view all 20 authors...
Fragile X-related disorders are due to a dynamic mutation of the CGG repeat at the 5′ UTR of the FMR1 gene, coding for the RNA-binding protein FMRP. As the CGG sequence expands from premutation (PM, 56-200 CGGs) to full mutation (> 200 CGGs), FMRP synthesis decreases until it is practically abolished in fragile X syndrome (FXS) patients, mainly due to FMR1 methylation. Cells from rare individuals with no intellectual disability and carriers of an unmethylated full mutation (UFM) produce slightly...
#1Chong Wu (FSU: Florida State University)H-Index: 5
#2Wei Pan (UMN: University of Minnesota)H-Index: 39
Transcriptome-wide association studies (TWAS) have been recently applied to successfully identify many novel genes associated with complex traits. While appealing, TWAS tend to identify multiple significant genes per locus, and many of them may not be causal due to confounding through linkage disequilibrium (LD) among SNPs. Here we introduce a powerful fine-mapping method that prioritizes putative causal genes by accounting for local LD. We apply a weighted adaptive test with eQTL-derived weight...
1 CitationsSource
#1Sandeep Aryal (UD: University of Delaware)
#2Deepti Anand (UD: University of Delaware)H-Index: 10
Last.Salil A. Lachke (UD: University of Delaware)H-Index: 18
view all 9 authors...
While the bioinformatics resource-tool iSyTE (integrated Systems Tool for Eye gene discovery) effectively identifies human cataract-associated genes, it is currently based on just transcriptome data, and thus, it is necessary to include protein-level information to gain greater confidence in gene prioritization. Here, we expand iSyTE through development of a novel proteome-based resource on the lens and demonstrate its utility in cataract gene discovery. We applied high-throughput tandem mass sp...
1 CitationsSource
#1Roman Tremmel (University of Tübingen)H-Index: 5
#2Kathrin Klein (University of Tübingen)H-Index: 40
Last.Ulrich M. Zanger (University of Tübingen)H-Index: 68
view all 10 authors...
Structural variants including copy number variations (CNV) have gained widespread attention, especially in pharmacogenomics but for several genes functional relevance and clinical evidence are still lacking. Detection of CNVs in next-generation sequencing data is challenging but offers widespread applications. We developed a cohort-based CNV detection workflow to extract CNVs from read counts of targeted NGS of 340 genes involved in absorption, distribution, metabolism and excretion (ADME) of dr...
#1Chaofeng TuH-Index: 3
#2Hong‐Chuan Nie (CSU: Central South University)H-Index: 2
Last.Yueqiu Tan (CSU: Central South University)H-Index: 12
view all 15 authors...
Severe asthenozoospermia is a common cause of male infertility. Recent studies have revealed that SPEF2 mutations lead to multiple morphological abnormalities of the sperm flagella (MMAF) without primary ciliary dyskinesia (PCD) symptoms in males, but PCD phenotype was also found in one female individual. Therefore, whether there is a phenotypic continuum ranging from infertile patients with PCD to MMAF patients with no or low noise PCD manifestations remains elusive. Here, we performed whole-ex...
#1Nandita Mukhopadhyay (University of Pittsburgh)H-Index: 7
#2Madison Bishop (Emory University)
Last.Mary L. Marazita (University of Pittsburgh)H-Index: 55
view all 19 authors...
Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority of OFCs are non-syndromic, and the genetic etiology of non-syndromic OFCs is only partially determined. Here, we analyze whole genome sequence (WGS) data for association with risk of OFCs in European and Colombian families selected from a multicenter family-based OFC study. This is the first large-scale WGS study of OFC in parent–offspring trios, a...
#1Sha Liu (Shanxi Medical University)H-Index: 5
#2Shuquan Rao (Southwest Jiaotong University)H-Index: 5
Last.Fuquan Zhang (Nanjing Medical University)H-Index: 9
view all 12 authors...
Major psychiatric traits are genetically inter-correlated with one another, but it not well known which genes play pleiotropic effects across different traits. We curated and compared genes identified from large-scale genome-wide association studies for seven psychiatric traits, including depression, bipolar disorder, schizophrenia, autism spectrum disorder, attention-deficit/hyperactivity disorder, anxiety and neuroticism. We then explored biological functions of the top pleiotropic genes. A to...
#1Ling GuoH-Index: 1
#2Jiale XiangH-Index: 2
Last.Ye YinH-Index: 28
view all 15 authors...
Top fields of study
Molecular biology
Human genetics