Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Cheryl A Wise"'
Autor:
Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J. Doust, Amelia F. Drake, Milagros M. Duenas-Roque, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, University of Washington Center for Mendelian Genomics, Sureni V. Mullegama, Harry Pachajoa, Gloria L. Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, Cheryl A. Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V. Luquetti
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Despite being a common congenital facial anomaly, the genetic etiology of craniofacial microsomia (CFM) is not well understood. Here, the authors use exome and genome sequencing of 146 individuals with CFM to identify haploinsufficient variants in SF
Externí odkaz:
https://doaj.org/article/d765e285eeb1444f96c9860e6bc243dd
Autor:
Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle, Lauren Akesson, Richard Allcock, Katie Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia Byrne, Eva Chan, Corrina Cliffe, Roderick Clifton-Bligh, Susan Dooley, Miriam Fanjul Fernandez, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah-Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli, Rodney Scott, Keryn Simons, Oliver Vanwageningen
Publikováno v:
Am J Hum Genet
Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3847493e457643efaf7244e001b19ac0
https://pubmed.ncbi.nlm.nih.gov/36332611
https://pubmed.ncbi.nlm.nih.gov/36332611
Autor:
Milagros M. Dueñas-Roque, Casey Griffin, Leanne Magee, Cheryl A Wise, Andrew T. Timberlake, Jennie Slee, Harry Pachajoa, Rhonda E. Schnur, Carrie L. Heike, Jean Pierre Saint-Jeannet, David A. Staffenberg, Natalya Karp, Gloria Liliana Porras-Hurtado, Ignacio Zarante, Steven L. Singer, Jonas A Gustafson, Daniela V Luquetti, Mark R. Davis, Paula Hurtado-Villa, Sureni V Mullegama, Soghra J Doust, David Chitayat, Alexis L. Johns, Anne V. Hing, Amelia F. Drake, Nigel G. Laing, Andrew E. Timms, Michael L. Cunningham, Jack Goldblatt
Publikováno v:
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Paediatrics Publications
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Paediatrics Publications
Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a hi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62f58f94a78f4961397d1b23918d39f7
https://pubmed.ncbi.nlm.nih.gov/34344887
https://pubmed.ncbi.nlm.nih.gov/34344887
Autor:
Padma Sivadorai, Royston Ong, Nina Kresoje, Sarah J. Beecroft, Gianina Ravenscroft, Cheryl A Wise, Mark R. Davis, Daniel Trajanoski, Fathimath Faiz, Rachael M. Duff, Vanessa Atkinson, Kyle S. Yau, Kym Mina, Nicholas Pachter, Rebecca Gooding, Kristen J. Nowak, Phillipa J. Lamont, Macarena Cabrera-Serrano, Richard J.N. Allcock, Nigel G. Laing
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Annals of Clinical and Translational Neurology, Vol 7, Iss 3, Pp 353-362 (2020)
Annals of Clinical and Translational Neurology
instname
Annals of Clinical and Translational Neurology, Vol 7, Iss 3, Pp 353-362 (2020)
Annals of Clinical and Translational Neurology
[Objective] To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center.
[Methods] We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 include
[Methods] We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 include
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ece99d557b65d57963d8f003b63df65
http://hdl.handle.net/10261/235464
http://hdl.handle.net/10261/235464
Autor:
J. Boutilier, Nigel G. Laing, Phillipa J. Lamont, Fathimath Faiz, Victoria A. Fabian, Cheryl A Wise, Macarena Cabrera-Serrano
Publikováno v:
Clinical Genetics. 88:573-578
An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::526069f32dac7e884c9d8c712bf2e9c0
https://doi.org/10.1111/cge.12552
https://doi.org/10.1111/cge.12552
Publikováno v:
Rapid Communications in Mass Spectrometry: RCM; Jun2003, Vol. 17 Issue 11, p1195, 8p
Publikováno v:
Europe PubMed Central
To test whether patterns of mitochondrial DNA (mtDNA) variation are consistent with a neutral model of molecular evolution, nucleotide sequences were determined for the 1041 bp of the NADH dehydrogenase subunit 2 (ND2) gene in 20 geographically diver
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9986271414e6b92fc65e66df961245f0
http://europepmc.org/abstract/med/9475751
http://europepmc.org/abstract/med/9475751