Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

Autor: Greg Pratt, Bastien Llamas, Ruth M. Arkell, Shayne A. Bellingham, Cliff J Meldrum, Ravi Savarirayan, Lynette Russell, Alex Brown, Saul Newman, Carola G. Vinuesa, Hugh Dawkins, Shivashankar H. Nagaraj, Warren Kaplan, John Skinner, Ashley Farlow, Wendy E. Hoy, Simon Easteal, Hardip R. Patel, Graham J. Mann, Tom Calma, Kylie Gwynne, Misty R. Jenkins, Lyndon Ormond-Parker, Marcel E. Dinger, Jack Nunn, Rebekah McWhirter, Boe Rambaldini, Matthew Silcocks, Gareth Baynam, Matthew C. Cook, Michael S. Dobbie, Devashi Paliwal, Simon H Jiang, Stephen Leslie, Brendan J. McMorran, Neil Orr, Azure Hermes, Megan Davis, Yassine Souilmi, Renzo F. Balboa, Glenn Pearson

Publikováno v: Am J Hum Genet

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b38fea929d04463f457071370eee539
https://doi.org/10.1016/j.ajhg.2020.06.005

Mandibulofacial Dysostosis with Microcephaly:Mutation and Database Update

Autor: Jenny Morton, Francine Pinheiro Favaro, Deborah J. Shears, Fabiola Quintero-Rivera, Art Grix, Shelagh Joss, Margaret H. Harr, Antonie D. Kline, William B. Dobyns, Vanesa López-González, Josh Silver, John C. Johnson, I. Karen Temple, Angela E. Scheuerle, Julie Lauzon, Jane Estrella, Amanda C. Smith, Himanshu Goel, Elaine H. Zackai, Judith Allanson, Ghayda M. Mirzaa, Matthew Osmond, Kym M. Boycott, Julie Richer, Taila Hartley, Matthew A. Lines, Laura A. Baker, Alasdair G. W. Hunter, Usha Kini, Johanna Martinezmoles, Louise C. Pyle, Cindy Hudson, Hanna Faghfoury, Susan M. White, Jiddeke M. van de Kamp, Megan R. Vanstone, Dorte L Lildballe, Dennis E. Bulman, Chantal F. Morel, Bitten Schönewolf-Greulich, Tabib Dabir, Cliff J Meldrum, Nick Barrowman, Maria Leine Guion-Almeida, Katrina M. Dipple, Ruobing Zou, Fleur S van Dijk, Lijia Huang, Pernille Axel Gregersen, Anthony Vandersteen, Amy S. Kimball, Karen W. Gripp

Publikováno v: Huang, L, Vanstone, M R, Hartley, T, Osmond, M, Barrowman, N, Allanson, J, Baker, L, Dabir, T A, Dipple, K M, Dobyns, W B, Estrella, J, Faghfoury, H, Favaro, F P, Goel, H, Gregersen, P A, Gripp, K W, Grix, A, Guion-Almeida, M L, Harr, M H, Hudson, C, Hunter, A G W, Johnson, J, Joss, S K, Kimball, A, Kini, U, Kline, A D, Lauzon, J, Lildballe, D L, López-González, V, Martinezmoles, J, Meldrum, C, Mirzaa, G M, Morel, C F, Morton, J E V, Pyle, L C, Quintero-Rivera, F, Richer, J, Scheuerle, A E, Schönewolf-Greulich, B, Shears, D J, Silver, J, Smith, A C, Temple, I K, van de Kamp, J M, van Dijk, F S, Vandersteen, A M, White, S M, Zackai, E H, Zou, R, Bulman, D E, Care4Rare Canada Consortium & UCLA Clinical Genomics Center 2016, ' Mandibulofacial Dysostosis with Microcephaly : Mutation and Database Update ', Human Mutation, vol. 37, no. 2, pp. 148-154 . https://doi.org/10.1002/humu.22924
Care4Rare Canada Consortium 2016, ' Mandibulofacial dysostosis with microcephaly : Mutation and database update ', Human Mutation, vol. 37, no. 2, pp. 148-154 . https://doi.org/10.1002/humu.22924
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB7, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK,; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R, Consortium CC, Bulman DE1, Boycott KM, Lines MA. 2016, ' Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update ', Human Mutation, vol. 37, no. 2 . https://doi.org/10.1002/humu.22924

Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c1db163302728a8b33ad72971076fcc
https://research.vumc.nl/en/publications/c8ea0851-1536-452e-81b0-89cf246d03b0