ISSN Portal
The Keepers Registry (preservation)
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Genetics in Medicine
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Springer Science and Business Media LLC
Homepage URLs
http://www.nature.com/gim/archive/index.html |
http://www.nature.com/gim/index.html |
http://www.geneticsinmedicine.org/ |
Example Publications
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis
Nicholas Owen, Maria Toms, Rodrigo M. Young, Jonathan Eintracht, Hajrah Sarkar, Brian P. Brooks, Mariya Moosajee, J.C. Ambrose, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere
(+63 others)
2022
|
Genetics in Medicine
doi:10.1016/j.gim.2021.12.014 pmid:35034853
Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study
Saskia C. Sanderson, Celine Lewis, Melissa Hill, Michelle Peter, Meriel McEntagart, Daniel Gale, Huw Morris, Mariya Moosajee, Beverly Searle, Amy Hunter, Christine Patch, Lyn S. Chitty
2021
|
Genetics in Medicine
doi:10.1016/j.gim.2021.08.010 pmid:34906473
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
Anthony R. Gregg, Mahmoud Aarabi, Susan Klugman, Natalia T. Leach, Michael T. Bashford, Tamar Goldwaser, Emily Chen, Teresa N. Sparks, Honey V. Reddi, Aleksandar Rajkovic, Jeffrey S. Dungan, ACMG Professional Practice and Guidelines Committee
2021
|
Genetics in Medicine
doi:10.1038/s41436-021-01203-z pmcid:PMC8488021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Maria Iqbal, Reza Maroofian, Büşranur Çavdarlı, Florence Riccardi, Michael Field, Siddharth Banka, Dalal K. Bubshait, Yun Li, Jozef Hertecant, Shahid Mahmood Baig, David Dyment, Stephanie Efthymiou
(+95 others)
2021
|
Genetics in Medicine
doi:10.1038/s41436-021-01260-4 pmcid:PMC8553613
Potential of polygenic risk scores for improving population estimates of women's breast cancer genetic risks
Michael Wolfson, Steve Gribble, Nora Pashayan, Douglas F. Easton, Antonis C. Antoniou, Andrew Lee, Sasha van Katwyk, Jacques Simard
2021
|
Genetics in Medicine
doi:10.1038/s41436-021-01258-y pmcid:PMC8553614
5,254
Known Releases
Preservation Summary [more]
| 2,864 | preserved and accessble (bright) | |
| 2,374 | preserved, inaccessible (dark) | |
| 16 | no known preservation |
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