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1,106 results

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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Dias KR, Shrestha R, Schofield D, Evans CA, O'Heir E, Zhu Y, Zhang F, Standen K, Weisburd B, Stenton SL, Sanchis-Juan A, Brand H, Talkowski ME, Ma A, Ghedia S, Wilson M, Sandaradura SA, Smith J, Kamien B, Turner A, Bakshi M, Adès LC, Mowat D, Regan M, McGillivray G, Savarirayan R, White SM, Tan TY, Stark Z, Brown NJ, Pérez-Jurado LA, Krzesinski E, Hunter MF, Akesson L, Fennell AP, Yeung A, Boughtwood T, Ewans LJ, Kerkhof J, Lucas C, Carey L, French H, Rapadas M, Stevanovski I, Deveson IW, Cliffe C, Elakis G, Kirk EP, Dudding-Byth T, Fletcher J, Walsh R, Corbett MA, Kroes T, Gecz J, Meldrum C, Cliffe S, Wall M, Lunke S, North K, Amor DJ, Field M, Sadikovic B, Buckley MF, O'Donnell-Luria A, Roscioli T. Dias KR, et al. Among authors: north k. Genet Med. 2024 May;26(5):101076. doi: 10.1016/j.gim.2024.101076. Epub 2024 Jan 19. Genet Med. 2024. PMID: 38258669
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z. Lunke S, et al. Among authors: north kn. Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8. Nat Med. 2023. PMID: 37291213 Free PMC article.
Sensory Processing in Children and Adolescents with Neurofibromatosis Type 1.
Pride NA, Haebich KM, Walsh KS, Lami F, Rouel M, Maier A, Chisholm AK, Lorenzo J, Hearps SJC, North KN, Payne JM. Pride NA, et al. Among authors: north kn. Cancers (Basel). 2023 Jul 14;15(14):3612. doi: 10.3390/cancers15143612. Cancers (Basel). 2023. PMID: 37509275 Free PMC article.
Machine learning-based clustering identifies obesity subgroups with differential multi-omics profiles and metabolic patterns.
Anwar MY, Highland H, Buchanan VL, Graff M, Young K, Taylor KD, Tracy RP, Durda P, Liu Y, Johnson CW, Aguet F, Ardlie KG, Gerszten RE, Clish CB, Lange LA, Ding J, Goodarzi MO, Chen YI, Peloso GM, Guo X, Stanislawski MA, Rotter JI, Rich SS, Justice AE, Liu CT, North K. Anwar MY, et al. Among authors: north k. Obesity (Silver Spring). 2024 Nov;32(11):2024-2034. doi: 10.1002/oby.24137. Obesity (Silver Spring). 2024. PMID: 39497627
Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas.
Borda V, Loesch DP, Guo B, Laboulaye R, Veliz-Otani D, French JN, Leal TP, Gogarten SM, Ikpe S, Gouveia MH, Mendes M, Abecasis GR, Alvim I, Arboleda-Bustos CE, Arboleda G, Arboleda H, Barreto ML, Barwick L, Bezzera MA, Blangero J, Borges V, Caceres O, Cai J, Chana-Cuevas P, Chen Z, Custer B, Dean M, Dinardo C, Domingos I, Duggirala R, Dieguez E, Fernandez W, Ferraz HB, Gilliland F, Guio H, Horta B, Curran JE, Johnsen JM, Kaplan RC, Kelly S, Kenny EE, Konkle BA, Kooperberg C, Lescano A, Lima-Costa MF, Loos RJF, Manichaikul A, Meyers DA, Naslavsky MS, Nickerson DA, North KE, Padilla C, Preuss M, Raggio V, Reiner AP, Rich SS, Rieder CR, Rienstra M, Rotter JI, Rundek T, Sacco RL, Sanchez C, Sankaran VG, Santos-Lobato BL, Schumacher-Schuh AF, Scliar MO, Silverman EK, Sofer T, Lasky-Su J, Tumas V, Weiss ST; Latin American Research Consortium on the Genetics of Parkinson’s Disease (LARGE-PD); National Institute of Neurological Disorders and Stroke (NINDS) Stroke Genetics Network (SiGN) Consortium; Trans-Omics for Precision Medicine (TOPMed) Population Genetics Working Group; Mata IF, Hernandez RD, Tarazona-Santos E, O'Connor TD. Borda V, et al. Among authors: north ke. Cell Genom. 2024 Oct 29:100692. doi: 10.1016/j.xgen.2024.100692. Online ahead of print. Cell Genom. 2024. PMID: 39486408 Free article.
1,106 results