Molecular Genetics & Genomic Medicine
© Wiley Periodicals, Inc.
Each article is made available under the terms of the Creative Commons Attribution License
Editor-in-Chief: Maximilian Muenke, M.D., Deputy Editor: Suzanne Hart, Ph.D.
Online ISSN: 2324-9269
New Video Highlight
New video highlight created by Anna Middleton on her recently published Molecular Genetics and Genomic Medicine paper entitled, "Genetic counselors and Genomic Counseling in the United Kingdom."
Recently Published Articles
- You have full text access to this OnlineOpen articleCellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM
Vivek M. Shastri and Kristina H. Schmidt
Article first published online: 26 NOV 2015 | DOI: 10.1002/mgg3.188
In this study, we have determined the ability of eight new BLM variants (P690L, R717L, R791C, W803R, Y811C, P868L, G972V, G1120R) to complement defects of Bloom syndrome patient-derived cells in DNA recombination and the DNA damage response. The study focuses on the first three hypomorphic BLM variants, which exhibit a novel set of cellular defects.
- You have full text access to this OnlineOpen articleHutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death
Philip M. Boone, Bo Yuan, Shen Gu, Zhiwei Ma, Tomasz Gambin, Claudia Gonzaga-Jauregui, Mahim Jain, Todd J. Murdock, Janson J. White, Shalini N. Jhangiani, Kimberly Walker, Qiaoyan Wang, Donna M. Muzny, Richard A. Gibbs, J. Fielding Hejtmancik, James R. Lupski, Jennifer E. Posey and Richard A. Lewis
Article first published online: 14 NOV 2015 | DOI: 10.1002/mgg3.181
We mapped autosomal recessive Hutterite-type cataracts to chromosome 6p21.32-p21.31. We identified a predicted damaging mutation in LEMD2 (c.T38G) that segregates with the phenotype in extended Hutterite kindreds (LOD = 9.62), suggesting that LEMD2 is the disease gene for this condition. Furthermore, we identified a novel association of Hutterite-type cataracts with sudden cardiac death at a young age.
- You have full text access to this OnlineOpen articleForeword to volume 3, issue 6 (pages 481–482)
P. Suzanne Hart and Maximilian Muenke
Article first published online: 11 NOV 2015 | DOI: 10.1002/mgg3.185
As 2015 draws to a close so too do the many celebrations of the 150th anniversary of Mendel's presentation of his work entitled “Experiments in Plant Hybridization” to the Natural History Society of Brno.
- You have full text access to this OnlineOpen articleRemembering Johann Gregor Mendel: a human, a Catholic priest, an Augustinian monk, and abbot (pages 483–485)
Father Clemens Richter
Article first published online: 11 NOV 2015 | DOI: 10.1002/mgg3.186
- You have full text access to this OnlineOpen articleMedical genetics and genomic medicine in Rwanda (pages 486–489)
Annette Uwineza and Leon Mutesa
Article first published online: 8 NOV 2015 | DOI: 10.1002/mgg3.184