Results 291 to 300 of about 1,023,995 (338)
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof +20 morewiley +1 more sourceWhat's in This For You? What's in This For Me?: A Win-Win Perspective of Involving Study Advisory Committee Members in Palliative Care Research. [PDF]
J Patient ExpBooker-Vaughns J, Rosini D, Batra R, Chan GK, Dunn P, Galvin R, Hopkins E, Isaacs E, Kizzie-Gillett CL, Maguire M, Navarro M, Reddy Pidatala N, Vaughan W, Welsh S, Williams P, Young-Brinn A, Van Allen K, Cuthel AM, Liddicoat Yamarik R, Flannery M, Goldfeld KS, Grudzen CR. +21 moreeuropepmc +1 more sourceSevere Nerve Enlargement in SOS2‐Related Noonan Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma +11 morewiley +1 more sourceThe Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg +16 morewiley +1 more sourceReport from the World Health Organization's immunization and vaccines-related implementation research advisory committee (IVIR-AC) meeting, virtual gathering, 26 February-1 March 2024. [PDF]
VaccineLambach P, Silal S, Sbarra AN, Koh M, Aggarwal R, Farooqui HH, Flasche S, Hogan AB, Kim SY, Leung K, Moss WJ, Munywoki PK, Portnoy A, Sheel M, Wang XY. +14 moreeuropepmc +1 more sourceEquitable Collaboration Between LMIC and HIC Researchers, Part I: A Preliminary Framework for Capacity Building in Psychiatric Genetics Research
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
International collaborations between high‐income countries (HICs) and low‐ and middle‐income countries (LMICs) have become increasingly essential in advancing global health, particularly within psychiatric research. These partnerships not only accelerate scientific discovery and enhance public health, but they also bring to light significant ...Brenda Cabrera‐Mendoza, Margit Burmeister, Marcella Rietschel, David Crepaz‐Keay, Yatan Pal Singh Balhara, Soraya Seedat, Victoria Marshe, Sian Hemmings, Roseann Peterson, Ruchika Kaushik, Biju Viswanath, Reeteka Sud, Partha Haldar, Mandy Johnstone, Anish V. Cherian, Todd Lencz, Janneke Zinkstok, Renato Polimanti, Daniel J. Mueller, Gabriel Lázaro‐Muñoz, Chunyu Liu, Nurnberger John I, Humberto Nicolini, Consuelo Walss‐Bass, Marcos Santoro, Sujata Satapathy, Chittaranjan Behera, Anna R. Docherty +27 morewiley +1 more sourceLuspatercept for Transfusion‐Dependent Beta‐Thalassemia: Real‐World Experience in a Large Cohort of Patients From Italy
American Journal of Hematology, EarlyView.Raffaella Origa, Barbara Gianesin, Antonietta Zappu, Anna Rita Denotti, Mary Ann Di Giorgio, Roberta Sciortino, Irene Motta, Daniele Lello Panzieri, Rosamaria Rosso, Anna Bulla, Martina Culcasi, Anna Maria Pasanisi, Lucia De Franceschi, Rosario Di Maggio, Valeria Maria Pinto, Paola Maria Grazia Sanna, Paolo Ricchi, Giovan Battista Ruffo, Francesca Schieppati, Domenico Roberti, Giovanni Battista Ferrero, Elisa De Michele, Francesco Arcioni, Ilaria Fotzi, Sarah Marktel, Antonella Poloni, Giulia Soverini, Epifania Rita Testa, Giusy Cabiddu, Carmelo Fortugno, Antonia Gigante, Francesca Polese, Davide Rapezzi, Antonella Sau, Gian Luca Forni, Maria Domenica Cappellini, Filomena Longo +36 morewiley +1 more source
