McMahon, O Hallam, T M Patel, S Harris, C L Menny, A Zelek, W M Widjajahakim, R Java, A Cox, T E Tzoumas, N
...
Published in
Human molecular genetics
Age-related macular degeneration (AMD) is a complex neurodegenerative eye disease with behavioral and genetic etiology and is the leading cause of irreversible vision loss among elderly Caucasians. Functionally significant genetic variants in the alternative pathway of complement have been strongly linked to disease. More recently, a rare variant i...
Kohl, Susanne Llavona, Pablo Sauer, Alexandra Reuter, Peggy Weisschuh, Nicole Kempf, Melanie Dehmelt, Florian Alexander Arrenberg, Aristides B Sliesoraityte, Ieva Zrenner, Eberhart
...
Published in
Human molecular genetics
Cone dystrophies are a rare subgroup of inherited retinal dystrophies and hallmarked by color vision defects, low or decreasing visual acuity and central vision loss, nystagmus and photophobia. Applying genome-wide linkage analysis and array comparative genome hybridization, we identified a locus for autosomal dominant cone dystrophy on chromosome ...
Waller, Rosalie Griffin Klein, Robert J Vijai, Joseph McKay, James D Clay-Gilmour, Alyssa Wei, Xiaomu Madsen, Michael J Sborov, Douglas W Curtin, Karen Slager, Susan L
...
Published in
Human molecular genetics
Inherited genetic risk factors play a role in multiple myeloma (MM), yet considerable missing heritability exists. Rare risk variants at genome-wide association study (GWAS) loci are a new avenue to explore. Pleiotropy between lymphoid neoplasms (LNs) has been suggested in family history and genetic studies, but no studies have interrogated sequenc...
Fowler, Alan J Hebron, Michaeline Balaraman, Kaluvu Shi, Wangke Missner, Alexander A Greenzaid, Jonathan D Chiu, Timothy L Ullman, Clementina Weatherdon, Ethan Duka, Val
...
Published in
Human Molecular Genetics
Ma, Yunlong Huang, Yukuan Zhao, Sen Yao, Yinghao Zhang, Yaru Qu, Jia Wu, Nan Su, Jianzhong
Published in
Human Molecular Genetics
The systematic identification of host genetic risk factors is essential for the understanding and treatment of coronavirus disease 2019 (COVID-19). By performing a meta-analysis of two independent genome-wide association summary datasets ( N = 680 128), a novel locus at 21q22.11 was identified to be associated with COVID-19 infection (rs9976829 in ...
Pakendorf, Brigitte Stoneking, Mark
Published in
Human molecular genetics
Peoples speaking so-called Khoisan languages-that is, indigenous languages of southern Africa that do not belong to the Bantu family-are culturally and linguistically diverse. They comprise herders, hunter-gatherers as well as groups of mixed modes of subsistence, and their languages are classified into three distinct language families. This cultur...
Martinelli, Angela Rice, Mabel L Talcott, Joel B Diaz, Rebeca Smith, Shelley Raza, Muhammad Hashim Snowling, Margaret J Hulme, Charles Stein, John Hayiou-Thomas, Marianna E
...
Published in
Human Molecular Genetics
At least 5% of children present unexpected difficulties in expressing and understanding spoken language. This condition is highly heritable and often co-occurs with other neurodevelopmental disorders such as dyslexia and ADHD. Through an exome sequencing analysis, we identified a rare missense variant (chr16:84405221, GRCh38.p12) in the ATP2C2 gene...
Yadava, Ramesh S Mandal, Mahua Giese, Jack M Rigo, Frank Bennett, C Frank Mahadevan, Mani S
Published in
Human Molecular Genetics
RNA toxicity underlies the pathogenesis of disorders such as myotonic dystrophy type 1 (DM1). Muscular dystrophy is a key element of the pathology of DM1. The means by which RNA toxicity causes muscular dystrophy in DM1 is unclear. Here, we have used the DM200 mouse model of RNA toxicity due to the expression of a mutant DMPK 3′UTR mRNA to model th...
Ibrahim, Muntaser E
Published in
Human Molecular Genetics
By virtue of their cultural, linguistic and genetic legacies, many populations from Sudan have deep histories in the region and retain high genetic diversities. Sudan’s location in north east Africa, a unique spot believed to act as a climatic refuge during periods of climate extremes, might have dictated that fate. Among the marked consequences of...
Adhikari, Anna Copping, Nycole A Beegle, Julie Cameron, David L Deng, Peter O’Geen, Henriette Segal, David J Fink, Kyle D Silverman, Jill L Anderson, Joseph S
...
Published in
Human Molecular Genetics
Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by impaired communication skills, ataxia, motor and balance deficits, intellectual disabilities, and seizures. The genetic cause of AS is the neuronal loss of UBE3A expression in the brain. A novel approach, described here, is a stem cell gene therapy which uses lentivector-...
