Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases
van Karnebeek, Clara D M, O'Donnell-Luria, Anne, Baynam, Gareth, Baudot, Anaïs, Groza, Tudor, Jans, Judith J M, Lassmann, Timo, Letinturier, Mary Catherine V, Montgomery, Stephen B, Robinson, Peter N, Sansen, Stefaan, Mehrian-Shai, Ruty, Steward, Charles, Kosaki, Kenjiro, Durao, Patricia, Sadikovic, Bekim
Published in Orphanet journal of rare diseases (27.09.2024)
Published in Orphanet journal of rare diseases (27.09.2024)
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Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
Baynam, Gareth, Julkowska, Daria, Bowdin, Sarah, Hermes, Azure, McMaster, Christopher R., Prichep, Elissa, Richer, Étienne, van der Westhuizen, Francois H., Repetto, Gabriela M., Malherbe, Helen, Reichardt, Juergen K. V., Arbour, Laura, Hudson, Maui, du Plessis, Kelly, Haendel, Melissa, Wilcox, Phillip, Lynch, Sally Ann, Rind, Shamir, Easteal, Simon, Estivill, Xavier, Caron, Nadine, Chongo, Meck, Thomas, Yarlalu, Letinturier, Mary Catherine V., Vorster, Barend Christiaan
Published in Nature genetics (01.02.2024)
Published in Nature genetics (01.02.2024)
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Journal Article
Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force
Chen, Faye H., Hartman, Adam L., Letinturier, Mary Catherine V., Antoniadou, Victoria, Baynam, Gareth, Bloom, Lara, Crimi, Marco, Della Rocca, Maria G., Didato, Giuseppe, Houge, Sofia Douzgou, Jonker, Anneliene, Kawome, Martina, Mueller, Friederike, O'Brien, James, Puri, Ratna Dua, Ryan, Nuala, Thong, Meow-Keong, Tumienė, Birutė, Parisi, Melissa A.
Published in European journal of medical genetics (01.12.2024)
Published in European journal of medical genetics (01.12.2024)
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The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies
Beaverson, Katherine L., Julkowska, Daria, Letinturier, Mary Catherine V., Aartsma-Rus, Annemieke, Austin, Jennifer, Bueren, Juan, Frost, Simon, Hamamura, Misako, Larkindale, Jane, LaRosa, Greg, Magenheim, Rita, Merico, Annamaria, Pasmooij, Anna Maria Gerdina, Pirard, Vinciane, Ekow Thomford, Nicholas, Wada, Michihiko, Wong-Rieger, Durhane, Hartman, Adam L.
Published in Therapeutic advances in rare disease (01.01.2023)
Published in Therapeutic advances in rare disease (01.01.2023)
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Global health for rare diseases through primary care
Baynam, Gareth, Hartman, Adam L, Letinturier, Mary Catherine V, Bolz-Johnson, Matt, Carrion, Prescilla, Grady, Alice Chen, Dong, Xinran, Dooms, Marc, Dreyer, Lauren, Graessner, Holm, Granados, Alicia, Groza, Tudor, Houwink, Elisa, Jamuar, Saumya Shekhar, Vasquez-Loarte, Tania, Tumiene, Biruté, Wiafe, Samuel Agyei, Bjornson-Pennell, Heidi, Groft, Stephen
Published in The Lancet global health (01.07.2024)
Published in The Lancet global health (01.07.2024)
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