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Page 1
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: gavrilova r. 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.
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
Babovic-Vuksanovic D, Messiaen L, Nagel C, Brems H, Scheithauer B, Denayer E, Mao R, Sciot R, Janowski KM, Schuhmann MU, Claes K, Beert E, Garrity JA, Spinner RJ, Stemmer-Rachamimov A, Gavrilova R, Van Calenbergh F, Mautner V, Legius E. Babovic-Vuksanovic D, et al. Among authors: gavrilova r. Eur J Hum Genet. 2012 Jun;20(6):618-25. doi: 10.1038/ejhg.2011.275. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258529 Free PMC article.
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study. Schuurs-Hoeijmakers JH, et al. Among authors: gavrilova rh. Am J Med Genet A. 2016 Mar;170(3):670-5. doi: 10.1002/ajmg.a.37476. Epub 2016 Feb 3. Am J Med Genet A. 2016. PMID: 26842493
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G; Individualized Medicine Clinic Members. Lazaridis KN, et al. Among authors: gavrilova rh. Mayo Clin Proc. 2016 Mar;91(3):297-307. doi: 10.1016/j.mayocp.2015.12.018. Mayo Clin Proc. 2016. PMID: 26944241
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW. Blackburn PR, et al. Among authors: gavrilova rh. J Biol Chem. 2017 Mar 3;292(9):3866-3876. doi: 10.1074/jbc.M116.770545. Epub 2017 Jan 5. J Biol Chem. 2017. PMID: 28057753 Free PMC article.
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B. Marom R, et al. Among authors: gavrilova rh. Hum Mutat. 2017 Oct;38(10):1365-1371. doi: 10.1002/humu.23282. Epub 2017 Jul 10. Hum Mutat. 2017. PMID: 28649782 Free PMC article.
The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients.
Vairo FP, Boczek NJ, Cousin MA, Kaiwar C, Blackburn PR, Conboy E, Lanpher BC, Gavrilova RH, Pichurin PN, Lazaridis KN, Babovic-Vuksanovic D, Klee EW. Vairo FP, et al. Among authors: gavrilova rh. Mol Genet Metab Rep. 2017 Aug 11;13:46-51. doi: 10.1016/j.ymgmr.2017.08.001. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 28831385 Free PMC article.
115 results