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Page 1
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine; Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network; Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Bainbridge MN, et al. Among authors: hurst ace. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. Brain. 2022. PMID: 35737950 Free PMC article.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study; Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium; Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study; Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network; Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T,… See abstract for full author list ➔ Bryant L, et al. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.
Pinard A, Fiander MDJ, Cecchi AC, Rideout AL, Azouz M, Fraser SM, McNeely PD, Walling S, Novara SC, Hurst ACE, Guo D, Parkash S, Bamshad MJ, Nickerson DA, Vandersteen AM, Milewicz DM. Pinard A, et al. Among authors: hurst ace. Neurology. 2021 Mar 30;96(13):e1783-e1791. doi: 10.1212/WNL.0000000000011653. Epub 2021 Feb 10. Neurology. 2021. PMID: 33568546 Free PMC article.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Briceño I, Gómez A, Deb W, Conrad S, Besnard T, Bézieau S, Krüger E, Küry S, Stankiewicz P. Isidor B, et al. Genet Med. 2022 Jan;24(1):179-191. doi: 10.1016/j.gim.2021.09.005. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906456 Free article.
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Banka S, Bennington A, Baker MJ, Rijckmans E, Clemente GD, Ansor NM, Sito H, Prasad P, Anyane-Yeboa K, Badalato L, Dimitrov B, Fitzpatrick D, Hurst ACE, Jansen AC, Kelly MA, Krantz I, Rieubland C, Ross M, Rudy NL, Sanz J, Stouffs K, Xu ZL, Malliri A, Kazanietz MG, Millard TH. Banka S, et al. Among authors: hurst ace. Brain. 2022 Dec 19;145(12):4232-4245. doi: 10.1093/brain/awac049. Brain. 2022. PMID: 35139179 Free PMC article.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Lupski JR, Beaudet AL, Wangler MF. Assia Batzir N, et al. Among authors: hurst ace. Hum Mutat. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19. Hum Mutat. 2020. PMID: 31769566 Free PMC article.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Küry S, et al. Among authors: hurst ace. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19. Am J Hum Genet. 2022. PMID: 35051358 Free PMC article.
Perspectives on the future of dysmorphology.
Solomon BD, Adam MP, Fong CT, Girisha KM, Hall JG, Hurst ACE, Krawitz PM, Moosa S, Phadke SR, Tekendo-Ngongang C, Wenger TL. Solomon BD, et al. Among authors: hurst ace. Am J Med Genet A. 2023 Mar;191(3):659-671. doi: 10.1002/ajmg.a.63060. Epub 2022 Dec 9. Am J Med Genet A. 2023. PMID: 36484420 Free PMC article.
66 results