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Page 1
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD,… See abstract for full author list ➔ Delgado-Vega AM, et al. Among authors: chetruengchai w. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. Nat Genet. 2024. PMID: 39433890 No abstract available.
Prevalence and clinical outcomes of germline variants among patients with myeloid neoplasms.
Kongkiatkamon S, Niparuck P, Rattanathammethee T, Kobbuaklee S, Suksusut A, Wudhikarn K, Ittiwut C, Chetruengchai W, Chuncharunee S, Bunworasate U, Suphapeetiporn K, Rojnuckarin P, Polprasert C. Kongkiatkamon S, et al. Among authors: chetruengchai w. J Clin Pathol. 2024 May 22:jcp-2023-209264. doi: 10.1136/jcp-2023-209264. Online ahead of print. J Clin Pathol. 2024. PMID: 38777570
Comprehensive genome assembly reveals genetic diversity and carcass consumption insights in critically endangered Asian king vultures.
Buthasane W, Shotelersuk V, Chetruengchai W, Srichomthong C, Assawapitaksakul A, Tangphatsornruang S, Pootakham W, Sonthirod C, Tongsima S, Wangkumhang P, Wilantho A, Thongphakdee A, Sanannu S, Poksawat C, Nipanunt T, Kasorndorkbua C, Koepfli KP, Pukazhenthi BS, Suriyaphol P, Wongsurawat T, Jenjaroenpun P, Suriyaphol G. Buthasane W, et al. Among authors: chetruengchai w. Sci Rep. 2024 Apr 24;14(1):9455. doi: 10.1038/s41598-024-59990-9. Sci Rep. 2024. PMID: 38658744 Free PMC article.
HLA-B*46:01:01:01 and HLA-DRB1*09:01:02:01 are associated with anti-rHuEPO-induced pure red cell aplasia.
Suttichet TB, Chamnanphon M, Pongpanich M, Chokyakorn S, Kupatawintu P, Srichomthong C, Chetruengchai W, Chuntakaruk H, Rungrotmongkol T, Chariyavilaskul P, Shotelersuk V, Praditpornsilpa K. Suttichet TB, et al. Among authors: chetruengchai w. Sci Rep. 2023 Dec 20;13(1):22759. doi: 10.1038/s41598-023-50211-3. Sci Rep. 2023. PMID: 38123661 Free PMC article.
Comparative genomics and genome-wide SNPs of endangered Eld's deer provide breeder selection for inbreeding avoidance.
Pumpitakkul V, Chetruengchai W, Srichomthong C, Phokaew C, Pootakham W, Sonthirod C, Nawae W, Tongsima S, Wangkumhang P, Wilantho A, Utara Y, Thongpakdee A, Sanannu S, Maikaew U, Khuntawee S, Changpetch W, Phromwat P, Raschasin K, Sarnkhaeveerakul P, Supapannachart P, Buthasane W, Pukazhenthi BS, Koepfli KP, Suriyaphol P, Tangphatsornruang S, Suriyaphol G, Shotelersuk V. Pumpitakkul V, et al. Among authors: chetruengchai w. Sci Rep. 2023 Nov 13;13(1):19806. doi: 10.1038/s41598-023-47014-x. Sci Rep. 2023. PMID: 37957263 Free PMC article.
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, Furini S, Saad C, Schmidt A, Olszewski P, Korotko U, Quinodoz M, Çelik E, Kundu K, Walter K, Jung J, Stockwell AD, Sloofman LG, Jordan DM, Thompson RC, Del Valle D, Simons N, Cheng E, Sebra R, Schadt EE, Kim-Schulze S, Gnjatic S, Merad M, Buxbaum JD, Beckmann ND, Charney AW, Przychodzen B, Chang T, Pottinger TD, Shang N, Brand F, Fava F, Mari F, Chwialkowska K, Niemira M, Pula S, Baillie JK, Stuckey A, Salas A, Bello X, Pardo-Seco J, Gómez-Carballa A, Rivero-Calle I, Martinón-Torres F, Ganna A, Karczewski KJ, Veerapen K, Bourgey M, Bourque G, Eveleigh RJ, Forgetta V, Morrison D, Langlais D, Lathrop M, Mooser V, Nakanishi T, Frithiof R, Hultström M, Lipcsey M, Marincevic-Zuniga Y, Nordlund J, Schiabor Barrett KM, Lee W, Bolze A, White S, Riffle S, Tanudjaja F, Sandoval E, Neveux I, Dabe S, Casadei N, Motameny S, Alaamery M, Massadeh S, Aljawini N, Almutairi MS, Arabi YM, Alqahtani SA, Al Harthi FS, Almutairi A, Alqubaishi F, Alotaibi S, Binowayn A, Alsolm EA, El Bardisy H, Fawzy M, Cai F, Soranzo N, Butterworth A; COVID-19 Host Genetics Initiative; DeCOI Host Genetics Group; GEN-COVID Multicenter Study (Italy); Mount S… See abstract for full author list ➔ Butler-Laporte G, et al. Among authors: chetruengchai w. PLoS Genet. 2022 Nov 3;18(11):e1010367. doi: 10.1371/journal.pgen.1010367. eCollection 2022 Nov. PLoS Genet. 2022. PMID: 36327219 Free PMC article.
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.
Boonsimma P, Ittiwut C, Kamolvisit W, Ittiwut R, Chetruengchai W, Phokaew C, Srichonthong C, Poonmaksatit S, Desudchit T, Suphapeetiporn K, Shotelersuk V. Boonsimma P, et al. Among authors: chetruengchai w. Eur J Hum Genet. 2023 Feb;31(2):179-187. doi: 10.1038/s41431-022-01202-x. Epub 2022 Oct 5. Eur J Hum Genet. 2023. PMID: 36198807 Free PMC article.
22 results