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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. Zufferey F, et al. Among authors: grant e. J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203. J Med Genet. 2012. PMID: 23054248 Free PMC article.
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium. D'Angelo D, et al. Among authors: grant e. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. JAMA Psychiatry. 2016. PMID: 26629640 Free PMC article.
Reframing wildlife disease management problems with decision analysis.
McEachran MC, Harvey JA, Mummah RO, Bletz MC, Teitelbaum CS, Rosenblatt E, Rudolph FJ, Arce F, Yin S, Prosser DJ, Mosher BA, Mullinax JM, DiRenzo GV, Couret J, Runge MC, Grant EHC, Cook JD. McEachran MC, et al. Among authors: grant ehc. Conserv Biol. 2024 May 24:e14284. doi: 10.1111/cobi.14284. Online ahead of print. Conserv Biol. 2024. PMID: 38785034
Characterisation of novel influenza-derived HLA-B*18:01-restricted epitopes.
Leong SL, Murdolo L, Maddumage JC, Koutsakos M, Kedzierska K, Purcell AW, Gras S, Grant EJ. Leong SL, et al. Among authors: grant ej. Clin Transl Immunology. 2024 May 10;13(5):e1509. doi: 10.1002/cti2.1509. eCollection 2024. Clin Transl Immunology. 2024. PMID: 38737448 Free PMC article.
Early and extended erythropoietin monotherapy after hypoxic ischaemic encephalopathy: a multicentre double-blind pilot randomised controlled trial.
Garegrat R, Londhe A, Manerkar S, Fattepur S, Deshmukh L, Joshi A, Chandriah S, Kariyappa M, Devadas S, Ethirajan T, Srivasan K, Kamalarathnam C, Balachandran A, Krishnan E, Sahayaraj D, Bandiya P, Shivanna N, Burgod C, Thayyil A, Alocious A, Lanza M, Muraleedharan P, Pant S, Venkateswaran H, Morales MM, Montaldo P, Krishnan V, Kalathingal T, Joshi AR, Vare A, Patil GC, Satyanathan BP, Hapat P, Deshmukh A, Shivarudhrappa I, Annayappa MK, Baburaj M, Muradi C, Fernandes E, Thale N, Jahan I, Shahidullah M, Choudhury SM, Dey SK, Neogi SB, Banerjee R, Rameh V, Alobeidi F, Grant E, Juul SE, Wilson M, Vita E, Pressler R, Bassett P, Shankaran S, Thayyil S. Garegrat R, et al. Among authors: grant e. Arch Dis Child Fetal Neonatal Ed. 2024 May 10:fetalneonatal-2024-327107. doi: 10.1136/archdischild-2024-327107. Online ahead of print. Arch Dis Child Fetal Neonatal Ed. 2024. PMID: 38729748
1,075 results