Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Autor: Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor

Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)

Abstract Background Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly l

Externí odkaz: https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc

The developing mouse coronal suture at single-cell resolution

Autor: J. Gage Crump, Yan Zhou, Hung-Jhen Chen, Nils Koelling, Amy E. Merrill, Kuo-Chang Tseng, Stephen R.F. Twigg, Riana K. Parvez, Andrew O.M. Wilkie, Guanlin Wang, Hana Mlcochova, Robert E. Maxson, Neil Ashley, D'Juan T Farmer, Helena Bugacov

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Nature Communications

Sutures separate the flat bones of the skull and enable coordinated growth of the brain and overlying cranium. The coronal suture is most commonly fused in monogenic craniosynostosis, yet the unique aspects of its development remain incompletely unde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::433271660d6eb75beb853bf1c849a978
https://doi.org/10.1038/s41467-021-24917-9

The developing mouse coronal suture at single-cell resolution

Autor: N Koelling, Guanlin Wang, Neil Ashley, J. Gage Crump, Robert E. Maxson, Yan Zhou, Stephen R.F. Twigg, Hana Mlcochova, D'Juan T Farmer, Andrew O.M. Wilkie

Sutures separate the flat bones of the skull and enable coordinated growth of the brain and overlying cranium. To uncover the cellular diversity within sutures, we generated single-cell transcriptomes and performed extensive expression validation of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::577ea7591aabc752970078bdb4dfd69e
https://doi.org/10.1101/2021.02.24.432636

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Autor: Hannah K Ralph, Dirk S. Paul, Nils Koelling, Pawan Dhami, Stefan H. Stricker, Geoffrey J. Maher, Hana Mlcochova, Gilean McVean, Andrew O.M. Wilkie, Stephan Beck, Anne Goriely, Eleni Giannoulatou, Zhihao Ding

Publikováno v: Genome research. 28(12)

Mosaic mutations present in the germline have important implications for reproductive risk and disease transmission. We previously demonstrated a phenomenon occurring in the male germline, whereby specific mutations arising spontaneously in stem cell

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f69ec3f84590f22ca1d3359a82003638
https://pubmed.ncbi.nlm.nih.gov/30355600

Predicting term birth weight using ultrasound and maternal characteristics

Autor: Lukas Rob, Peter Feldmar, Michael George Halaska, Michal Krcmar, Hana Mlcochova, R. Vlk, Ivana Mala, M. Hrehorcak

Publikováno v: European Journal of Obstetrics & Gynecology and Reproductive Biology. 128:231-235

Objectives The aim of the study was to compare an ultrasound-based prediction formula of Shepard, Hadlock, our new equation and equation of Nahum based on maternal characteristics. Study design Two groups of 125 (group A) and 130 (group B) healthy te

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e615d71fa9e09b103f39f7287b90a0c
https://doi.org/10.1016/j.ejogrb.2006.01.020