Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Gareth S. Baynam"'
Autor:
Soha Sadat Mahdi, Harold Matthews, Nele Nauwelaers, Michiel Vanneste, Shunwang Gong, Giorgos Bouritsas, Gareth S. Baynam, Peter Hammond, Richard Spritz, Ophir D. Klein, Benedikt Hallgrimsson, Hilde Peeters, Michael Bronstein, Peter Claes
Publikováno v:
IEEE Access, Vol 10, Pp 23450-23462 (2022)
Identification and delineation of craniofacial characteristics support the clinical and molecular diagnosis of genetic syndromes. Deep learning (DL) frameworks for syndrome identification from 2D facial images are trained on large clinical datasets u
Externí odkaz:
https://doaj.org/article/be55dad4767447a29263c8bcfe7746a7
Autor:
Harold S. Matthews, Richard L. Palmer, Gareth S. Baynam, Oliver W. Quarrell, Ophir D. Klein, Richard A. Spritz, Raoul C. Hennekam, Susan Walsh, Mark Shriver, Seth M. Weinberg, Benedikt Hallgrimsson, Peter Hammond, Anthony J. Penington, Hilde Peeters, Peter D. Claes
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the d
Externí odkaz:
https://doaj.org/article/9ea19e482b9a40fb850f0d90987b746d
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:
Soha S. Mahdi, Harold Matthews, Michiel Vanneste, Nele Nauwelaers, Shunwang Gong, Giorgos Bouritsas, Gareth S Baynam, Peter Hammond, Richard Spritz, Ophir D Klein, Benedikt Hallgrimsson, Hilde Peeters, Peter Claes
Clinical diagnosis of syndromes benefits strongly from objective facial phenotyping. This study investigates facial dysmorphism of genetic syndromes by building and investigating a low-dimensional metric space referred to as the clinical face phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59521774e09350883f2edf7eb867fc48
https://doi.org/10.1101/2022.12.27.521999
https://doi.org/10.1101/2022.12.27.521999
Publikováno v:
Birth Defects Research
Seasonal inactivated influenza vaccine (IIV) is routinely recommended during pregnancy to protect both mothers and infants from complications following influenza infection. While previous studies have evaluated the risk of major structural birth defe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30a00cbebe49edcce7edbef5d362410a
https://pubmed.ncbi.nlm.nih.gov/35678518
https://pubmed.ncbi.nlm.nih.gov/35678518
Autor:
Maui, Hudson, Nanibaa' A, Garrison, Rogena, Sterling, Nadine R, Caron, Keolu, Fox, Joseph, Yracheta, Jane, Anderson, Phil, Wilcox, Laura, Arbour, Alex, Brown, Maile, Taualii, Tahu, Kukutai, Rodney, Haring, Ben, Te Aika, Gareth S, Baynam, Peter K, Dearden, David, Chagné, Ripan S, Malhi, Ibrahim, Garba, Nicki, Tiffin, Deborah, Bolnick, Matthew, Stott, Anna K, Rolleston, Leah L, Ballantyne, Ray, Lovett, Dominique, David-Chavez, Andrew, Martinez, Andrew, Sporle, Maggie, Walter, Jeff, Reading, Stephanie Russo, Carroll
Publikováno v:
Nature reviews. Genetics. 21(6)
Addressing Indigenous rights and interests in genetic resources has become increasingly challenging in an open science environment that promotes unrestricted access to genomic data. Although Indigenous experiences with genetic research have been shap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8752ee955e4363154499fb6d6afabf37
https://pubmed.ncbi.nlm.nih.gov/32251390
https://pubmed.ncbi.nlm.nih.gov/32251390
Autor:
Mary B, Abraham, Karen, Carpenter, Gareth S, Baynam, Deborah Jg, Mackay, Glynis, Price, Catherine S, Choong
Publikováno v:
Journal of paediatrics and child health. 51(5)
Silver-Russell syndrome (SRS) and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are described in isolation. However, their co-occurrence has only been rarely reported. Here, we present a case report of an adolescent with SRS who was diagnosed with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0d4c9d192436eb6c11bad204d7f6c74d
https://pubmed.ncbi.nlm.nih.gov/25418154
https://pubmed.ncbi.nlm.nih.gov/25418154