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Page 1
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH; Care4Rare Canada Consortium; Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. Klöckner C, et al. Among authors: zarate ya. Genet Med. 2021 Apr;23(4):653-660. doi: 10.1038/s41436-020-01020-w. Epub 2020 Dec 10. Genet Med. 2021. PMID: 33299146 Free article.
Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.
Vivero M, Cho MT, Begtrup A, Wentzensen IM, Walsh L, Payne K, Zarate YA, Bosanko K, Schaefer GB, DeBrosse S, Pollack L, Mason K, Retterer K, DeWard S, Juusola J, Chung WK. Vivero M, et al. Among authors: zarate ya. Clin Genet. 2017 Jun;91(6):929-931. doi: 10.1111/cge.12899. Epub 2017 Jan 30. Clin Genet. 2017. PMID: 28133733 No abstract available.
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Tanaka AJ, Cho MT, Willaert R, Retterer K, Zarate YA, Bosanko K, Stefans V, Oishi K, Williamson A, Wilson GN, Basinger A, Barbaro-Dieber T, Ortega L, Sorrentino S, Gabriel MK, Anderson IJ, Sacoto MJG, Schnur RE, Chung WK. Tanaka AJ, et al. Among authors: zarate ya. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002097. doi: 10.1101/mcs.a002097. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 29162653 Free PMC article.
Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Beyens A, et al. Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Genet Med. 2018. PMID: 29323665 Free article.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Zarate YA, et al. Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13. Am J Med Genet A. 2018. PMID: 29436146
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J. Smol T, et al. Among authors: zarate ya. Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6. Neurogenetics. 2018. PMID: 29511999
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: zarate ya. 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.
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K. Burkardt DD, et al. Among authors: zarate ya. Am J Med Genet A. 2019 Oct;179(10):2049-2055. doi: 10.1002/ajmg.a.61321. Epub 2019 Aug 9. Am J Med Genet A. 2019. PMID: 31400068
103 results