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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, … See abstract for full author list ➔ Cogné B, et al. Among authors: whitlock k. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827496 Free PMC article.
Utilization trends in cerebrospinal fluid shunt infection prevention techniques in the United States from 2007 to 2015.
Podkovik S, Zhou C, Coffin SE, Hall M, Hauptman JS, Kronman MP, Mangano FT, Pollack IF, Sedano S, Schaffzin JK, Thorell E, Warf BC, Whitlock KB, Simon TD. Podkovik S, et al. Among authors: whitlock kb. J Neurosurg Pediatr. 2024 Jan 5;33(4):349-358. doi: 10.3171/2023.11.PEDS2337. Print 2024 Apr 1. J Neurosurg Pediatr. 2024. PMID: 38181501 Free PMC article.
Associations of Standard Care, Intrathecal Antibiotics, and Antibiotic-Impregnated Catheters With Cerebrospinal Fluid Shunt Infection Organisms and Resistance.
Sedano S, Kronman MP, Whitlock KB, Zhou C, Coffin SE, Hauptman JS, Heller E, Mangano FT, Pollack IF, Schaffzin JK, Thorell E, Warf BC, Simon TD. Sedano S, et al. Among authors: whitlock kb. J Pediatric Infect Dis Soc. 2023 Sep 27;12(9):504-512. doi: 10.1093/jpids/piad064. J Pediatric Infect Dis Soc. 2023. PMID: 37681670 Free PMC article.
158 results