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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  
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2,864 preserved and accessble (bright)
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article-journal 5,232
unknown-type 16
letter 6
ISSN-L?  1098-3600
    Print:  1098-3600
    Electronic:  1530-0366
Wikidata  Q15765508
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