Below are the most recent publications written about "Rare Diseases" by people in Profiles.
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Halley MC, Smith HS, Ashley EA, Goldenberg AJ, Tabor HK. A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States. Nat Genet. 2022 Mar; 54(3):219-222.
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Bellen HJ. Lord of the fruit flies: an interview with Hugo Bellen. Dis Model Mech. 2022 03 01; 15(3).
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Hsieh TC, Bar-Haim A, Moosa S, Ehmke N, Gripp KW, Pantel JT, Danyel M, Mensah MA, Horn D, Rosnev S, Fleischer N, Bonini G, Hustinx A, Schmid A, Knaus A, Javanmardi B, Klinkhammer H, Lesmann H, Sivalingam S, Kamphans T, Meiswinkel W, Ebstein F, Krüger E, Küry S, Bézieau S, Schmidt A, Peters S, Engels H, Mangold E, Kreiß M, Cremer K, Perne C, Betz RC, Bender T, Grundmann-Hauser K, Haack TB, Wagner M, Brunet T, Bentzen HB, Averdunk L, Coetzer KC, Lyon GJ, Spielmann M, Schaaf CP, Mundlos S, Nöthen MM, Krawitz PM. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nat Genet. 2022 03; 54(3):349-357.
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Incerti D, Xu XM, Chou JW, Gonzaludo N, Belmont JW, Schroeder BE. Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases. Genet Med. 2022 01; 24(1):109-118.
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Plon SE. Importance of Population-Based Cancer Risk Information in the Care of Patients With Rare Genetic Disorders. J Clin Oncol. 2022 01 01; 40(1):5-7.
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Mussa FF, Girardi LN, Braverman AC, Grima J, Eagle KA, Coselli JS. Introduction to the Genetically Triggered Aortic Conditions Alliance. J Vasc Surg. 2022 01; 75(1):1-2.
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Martin K, McConnell A, Elsea SH. Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 11; 36(13-14):1218-1222.
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Veatch OJ, Malow BA, Lee HS, Knight A, Barrish JO, Neul JL, Lane JB, Skinner SA, Kaufmann WE, Miller JL, Driscoll DJ, Bird LM, Butler MG, Dykens EM, Gold JA, Kimonis V, Bacino CA, Tan WH, Kothare SV, Peters SU, Percy AK, Glaze DG. Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes. Pediatr Neurol. 2021 10; 123:30-37.
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Baldridge D, Wangler MF, Bowman AN, Yamamoto S, Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M. Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 2021 05 07; 16(1):206.
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Panici B, Nakajima H, Carlston CM, Ozadam H, Cenik C, Cenik ES. Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder. Genomics. 2021 07; 113(4):1895-1905.