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Page 1
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. Among authors: norman j. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Among authors: norman j. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 Free PMC article.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study; Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Snijders Blok L, et al. Among authors: norman j. Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235985 Free PMC article.
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: norman j. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
Emergence of Long-Range Angular Correlations in Low-Multiplicity Proton-Proton Collisions.
Acharya S, Adamová D, Aglieri Rinella G, Aglietta L, Agnello M, Agrawal N, Ahammed Z, Ahmad S, Ahn SU, Ahuja I, Akindinov A, Al-Turany M, Aleksandrov D, Alessandro B, Alfanda HM, Alfaro Molina R, Ali B, Alici A, Alizadehvandchali N, Alkin A, Alme J, Alocco G, Alt T, Altamura AR, Altsybeev I, Alvarado JR, Anaam MN, Andrei C, Andreou N, Andronic A, Andronov E, Anguelov V, Antinori F, Antonioli P, Apadula N, Aphecetche L, Appelshäuser H, Arata C, Arcelli S, Aresti M, Arnaldi R, Arneiro JGMCA, Arsene IC, Arslandok M, Augustinus A, Averbeck R, Azmi MD, Baba H, Badalà A, Bae J, Baek YW, Bai X, Bailhache R, Bailung Y, Bala R, Balbino A, Baldisseri A, Balis B, Banerjee D, Banoo Z, Barile F, Barioglio L, Barlou M, Barman B, Barnaföldi GG, Barnby LS, Barreau E, Barret V, Barreto L, Bartels C, Barth K, Bartsch E, Bastid N, Basu S, Batigne G, Battistini D, Batyunya B, Bauri D, Bazo Alba JL, Bearden IG, Beattie C, Becht P, Behera D, Belikov I, Bell Hechavarria ADC, Bellini F, Bellwied R, Belokurova S, Beltran LGE, Beltran YAV, Bencedi G, Beole S, Berdnikov Y, Berdnikova A, Bergmann L, Besoiu MG, Betev L, Bhaduri PP, Bhasin A, Bhat MA, Bhattacharjee B, Bianchi L, Bianchi N, Bielčík J, Bielčíkov… See abstract for full author list ➔ Acharya S, et al. Among authors: norman j. Phys Rev Lett. 2024 Apr 26;132(17):172302. doi: 10.1103/PhysRevLett.132.172302. Phys Rev Lett. 2024. PMID: 38728735
Erratum to "Single nuclei transcriptomics in diabetic mice reveals altered brain hippocampal endothelial cell function, permeability, and behavior" [BBA - Mol. Basis Dis. 1870 (2024) 166970].
Nuthikattu S, Milenkovic D, Norman JE, Villablanca AC. Nuthikattu S, et al. Among authors: norman je. Biochim Biophys Acta Mol Basis Dis. 2024 May 8:167218. doi: 10.1016/j.bbadis.2024.167218. Online ahead of print. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38724421 No abstract available.
First Measurement of the |t| Dependence of Incoherent J/ψ Photonuclear Production.
Acharya S, Adamová D, Adler A, Aglieri Rinella G, Agnello M, Agrawal N, Ahammed Z, Ahmad S, Ahn SU, Ahuja I, Akindinov A, Al-Turany M, Aleksandrov D, Alessandro B, Alfanda HM, Alfaro Molina R, Ali B, Alici A, Alizadehvandchali N, Alkin A, Alme J, Alocco G, Alt T, Altamura AR, Altsybeev I, Alvarado JR, Anaam MN, Andrei C, Andronic A, Anguelov V, Antinori F, Antonioli P, Apadula N, Aphecetche L, Appelshäuser H, Arata C, Arcelli S, Aresti M, Arnaldi R, Arneiro JGMCA, Arsene IC, Arslandok M, Augustinus A, Averbeck R, Azmi MD, Baba H, Badalà A, Bae J, Baek YW, Bai X, Bailhache R, Bailung Y, Balbino A, Baldisseri A, Balis B, Banerjee D, Banoo Z, Barbera R, Barile F, Barioglio L, Barlou M, Barnaföldi GG, Barnby LS, Barret V, Barreto L, Bartels C, Barth K, Bartsch E, Bastid N, Basu S, Batigne G, Battistini D, Batyunya B, Bauri D, Bazo Alba JL, Bearden IG, Beattie C, Becht P, Behera D, Belikov I, Bell Hechavarria ADC, Bellini F, Bellwied R, Belokurova S, Bencedi G, Beole S, Bercuci A, Berdnikov Y, Berdnikova A, Bergmann L, Besoiu MG, Betev L, Bhaduri PP, Bhasin A, Bhat MA, Bhattacharjee B, Bianchi L, Bianchi N, Bielčík J, Bielčíková J, Biernat J, Bigot AP, Bilandzic A, Biro G, Biswas S, Bi… See abstract for full author list ➔ Acharya S, et al. Among authors: norman j. Phys Rev Lett. 2024 Apr 19;132(16):162302. doi: 10.1103/PhysRevLett.132.162302. Phys Rev Lett. 2024. PMID: 38701458
Notochord segmentation in zebrafish controlled by iterative mechanical signaling.
Wopat S, Adhyapok P, Daga B, Crawford JM, Norman J, Bagwell J, Peskin B, Magre I, Fogerson SM, Levic DS, Di Talia S, Kiehart DP, Charbonneau P, Bagnat M. Wopat S, et al. Among authors: norman j. Dev Cell. 2024 Apr 26:S1534-5807(24)00238-7. doi: 10.1016/j.devcel.2024.04.013. Online ahead of print. Dev Cell. 2024. PMID: 38697108
A collaborative network trial to evaluate the effectiveness of implementation strategies to maximize adoption of a school-based healthy lunchbox program: a study protocol.
Barnes C, Jones J, Wolfenden L, Robertson K, Seidler AL, Norman J, Budgen P, Mattingly M, Piliskic C, Moorhouse L, Mozina J, Plaskett J, McDermott S, Darney S, Vuong C, Douglass N, McDonnell K, Sutherland R. Barnes C, et al. Among authors: norman j. Front Public Health. 2024 Mar 27;12:1367017. doi: 10.3389/fpubh.2024.1367017. eCollection 2024. Front Public Health. 2024. PMID: 38601495 Free PMC article.
2,144 results