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45 results

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Page 1
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group. Jønch AE, et al. J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26. J Med Genet. 2019. PMID: 31451536 Free PMC article.
Phenylalanine hydroxylase deficiency.
Mitchell JJ, Trakadis YJ, Scriver CR. Mitchell JJ, et al. Among authors: trakadis yj. Genet Med. 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. Genet Med. 2011. PMID: 21555948 Free article. Review.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: trakadis y. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
A primer on the use of machine learning to distil knowledge from data in biological psychiatry.
Quinn TP, Hess JL, Marshe VS, Barnett MM, Hauschild AC, Maciukiewicz M, Elsheikh SSM, Men X, Schwarz E, Trakadis YJ, Breen MS, Barnett EJ, Zhang-James Y, Ahsen ME, Cao H, Chen J, Hou J, Salekin A, Lin PI, Nicodemus KK, Meyer-Lindenberg A, Bichindaritz I, Faraone SV, Cairns MJ, Pandey G, Müller DJ, Glatt SJ; Machine Learning in Psychiatry (MLPsych) Consortium. Quinn TP, et al. Among authors: trakadis yj. Mol Psychiatry. 2024 Feb;29(2):387-401. doi: 10.1038/s41380-023-02334-2. Epub 2024 Jan 4. Mol Psychiatry. 2024. PMID: 38177352 Review.
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: trakadis y. Pediatrics. 2021 Aug;148(2):e2020037747. doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. Pediatrics. 2021. PMID: 34266901
Paper II: thematic framework analysis of registry-based randomized controlled trials provided insights for designing trial ready registries.
Krause KR, Tay J, Douglas WA, Sammy A, Baba A, Goren K, Thombs BD, Howie AH, Oskoui M, Frøbert O, Trakadis Y, Little J, Potter BK, Butcher NJ, Offringa M. Krause KR, et al. Among authors: trakadis y. J Clin Epidemiol. 2023 Jul;159:330-343. doi: 10.1016/j.jclinepi.2023.04.015. Epub 2023 May 4. J Clin Epidemiol. 2023. PMID: 37146660 Review.
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, Chakraborty P, Geraghty MT, Irwin J, Tessier L, Nicholls SG, Offringa M, Butcher NJ, Iverson R, Clifford TJ, Stockler S, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Ghai SJ, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Mitchell JJ, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: trakadis y. Orphanet J Rare Dis. 2020 Jan 14;15(1):12. doi: 10.1186/s13023-019-1276-1. Orphanet J Rare Dis. 2020. PMID: 31937333 Free PMC article. Review.
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
Khangura SD, Karaceper MD, Trakadis Y, Mitchell JJ, Chakraborty P, Tingley K, Coyle D, Grosse SD, Kronick JB, Laberge AM, Little J, Prasad C, Sikora L, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Wilson BJ, Wilson K, Zayed R, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Khangura SD, et al. Among authors: trakadis y. BMC Pediatr. 2015 Feb 13;15:7. doi: 10.1186/s12887-015-0323-x. BMC Pediatr. 2015. PMID: 25886474 Free PMC article. Review.
Family-centred care interventions for children with chronic conditions: A scoping review.
Chow AJ, Saad A, Al-Baldawi Z, Iverson R, Skidmore B, Jordan I, Pallone N, Smith M, Chakraborty P, Brehaut J, Cohen E, Dyack S, Gillis J, Goobie S, Greenberg CR, Hayeems R, Hutton B, Inbar-Feigenberg M, Jain-Ghai S, Khangura S, MacKenzie JJ, Mitchell JJ, Moazin Z, Nicholls SG, Pender A, Prasad C, Schulze A, Siriwardena K, Sparkes RN, Speechley KN, Stockler S, Taljaard M, Teitelbaum M, Trakadis Y, Van Karnebeek C, Walia JS, Wilson K, Potter BK. Chow AJ, et al. Among authors: trakadis y. Health Expect. 2024 Feb;27(1):e13897. doi: 10.1111/hex.13897. Health Expect. 2024. PMID: 39102737 Free PMC article. Review.
45 results