Zobrazeno 1 - 10
of 264
pro vyhledávání: '"Jack, Goldblatt"'
Autor:
Eva-Lena Stattin, Karin Lindblom, André Struglics, Patrik Önnerfjord, Jack Goldblatt, Abhijit Dixit, Ajoy Sarkar, Tabitha Randell, Mohnish Suri, Cathleen Raggio, Jessica Davis, Erin Carter, Anders Aspberg
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract The cartilage aggrecan proteoglycan is crucial for both skeletal growth and articular cartilage function. A number of aggrecan (ACAN) gene variants have been linked to skeletal disorders, ranging from short stature to severe chondrodyplasias
Externí odkaz:
https://doaj.org/article/1eb5bb77dab24e68b92ae2ffddd75753
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:
Timo Lassmann, Richard W. Francis, Alexia Weeks, Dave Tang, Sarra E. Jamieson, Stephanie Broley, Hugh J. S. Dawkins, Lauren Dreyer, Jack Goldblatt, Tudor Groza, Benjamin Kamien, Cathy Kiraly-Borri, Fiona McKenzie, Lesley Murphy, Nicholas Pachter, Gargi Pathak, Cathryn Poulton, Amanda Samanek, Rachel Skoss, Jennie Slee, Sharron Townshend, Michelle Ward, Gareth S. Baynam, Jenefer M. Blackwell
Publikováno v:
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)
Abstract Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25−30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patie
Externí odkaz:
https://doaj.org/article/811cb355cf5b4897b431fd467c9f3752
Autor:
Sadia Jahan, Subashini Sarathchandran, Shamina Akhter, Jack Goldblatt, Samantha Stark, Douglas Crawford, Andrew Mallett, Mark Thomas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-4 (2020)
Abstract Aim To determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis. Background FD is a multisystem X-linked lysosomal storage disease caused by deficient activity of alpha-galactosidase-
Externí odkaz:
https://doaj.org/article/57199a5542bb48cbaf91a288c24144b5
Autor:
Minh Thu Nguyen, Jack Goldblatt, Rosario Isasi, Marlene Jagut, Anneliene Hechtelt Jonker, Petra Kaufmann, Laetitia Ouillade, Fruszina Molnar-Gabor, Mahsa Shabani, Eric Sid, Anne Marie Tassé, Durhane Wong-Rieger, Bartha Maria Knoppers, on behalf of the IRDiRC-GA4GH Model Consent Clauses Task Force
Publikováno v:
BMC Medical Ethics, Vol 20, Iss 1, Pp 1-7 (2019)
Abstract Background Rare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing. To maximize the impact of and to further build
Externí odkaz:
https://doaj.org/article/f28b074704354c71b2611cfcbe3e4b65
Autor:
Yong Song, Hilda Higgins, Jing Guo, Katrina Harrison, En Nee Schultz, Belinda J. Hales, Eric K. Moses, Jack Goldblatt, Nicholas Pachter, Guicheng Zhang
Publikováno v:
Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-11 (2018)
Abstract Background Circulating microRNAs (miRNAs) are emerging as novel biomarkers for detecting cardiovascular diseases. In this study, we aimed to investigate the usefulness of miRNAs as biomarkers in diagnosing and predicting children with congen
Externí odkaz:
https://doaj.org/article/3e4238012997449db785136a8c62fdc7
Autor:
Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Background New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-spe
Externí odkaz:
https://doaj.org/article/fd1d44fbca064efaae5bfc0d962bda6b
Autor:
Maria Fuller, Jack Goldblatt
Publikováno v:
Lysosomal Storage Disorders. :59-67
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e35a6781230cdc4fd1db5ff6f448a05a
https://doi.org/10.1002/9781119697312.ch7
https://doi.org/10.1002/9781119697312.ch7
Autor:
Joanne P. Young, Michael A. McGuckin, Noralane M. Lindor, Stephen N. Thibodeau, Bharati Bapat, Loic Le Marchand, John D. Potter, John A. Baron, Robert W. Haile, Finlay A. Macrae, Susan Parry, Sonja Woodall, Michael R. Gattas, Elise Pelzer, Kathy Tucker, Amanda Muir, Jack Goldblatt, Jill George, Graeme K. Suthers, Kerry D. Phillips, Mark A. Jenkins, John L. Hopper, Amanda B. Spurdle, Diane M. McKeone, Rhiannon Walters, Mark Clendenning, Sven T. Arnold, Sally-Ann Pearson, Margaret C. Cummings, Daniel D. Buchanan, Michael D. Walsh
Supplementary Data from Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf60a94d58ca430f1ec2a41acc1a07aa
https://doi.org/10.1158/1078-0432.22442241.v1
https://doi.org/10.1158/1078-0432.22442241.v1
Autor:
Joanne P. Young, Michael A. McGuckin, Noralane M. Lindor, Stephen N. Thibodeau, Bharati Bapat, Loic Le Marchand, John D. Potter, John A. Baron, Robert W. Haile, Finlay A. Macrae, Susan Parry, Sonja Woodall, Michael R. Gattas, Elise Pelzer, Kathy Tucker, Amanda Muir, Jack Goldblatt, Jill George, Graeme K. Suthers, Kerry D. Phillips, Mark A. Jenkins, John L. Hopper, Amanda B. Spurdle, Diane M. McKeone, Rhiannon Walters, Mark Clendenning, Sven T. Arnold, Sally-Ann Pearson, Margaret C. Cummings, Daniel D. Buchanan, Michael D. Walsh
Purpose: The recognition of breast cancer as a spectrum tumor in Lynch syndrome remains controversial. The aim of this study was to explore features of breast cancers arising in Lynch syndrome families.Experimental Design: This observational study in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69bf8927b319a3e1c6bfb1f76b69a428
https://doi.org/10.1158/1078-0432.c.6519033
https://doi.org/10.1158/1078-0432.c.6519033