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Page 1
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: meagher k. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM. Elliott AM, et al. Among authors: meagher k. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
Observation of Seven Astrophysical Tau Neutrino Candidates with IceCube.
Abbasi R, Ackermann M, Adams J, Agarwalla SK, Aguilar JA, Ahlers M, Alameddine JM, Amin NM, Andeen K, Anton G, Argüelles C, Ashida Y, Athanasiadou S, Axani SN, Bai X, Balagopal VA, Baricevic M, Barwick SW, Basu V, Bay R, Beatty JJ, Becker Tjus J, Beise J, Bellenghi C, Benning C, BenZvi S, Berley D, Bernardini E, Besson DZ, Blaufuss E, Blot S, Bontempo F, Book JY, Boscolo Meneguolo C, Böser S, Botner O, Böttcher J, Bourbeau E, Braun J, Brinson B, Brostean-Kaiser J, Burley RT, Busse RS, Butterfield D, Campana MA, Carloni K, Carnie-Bronca EG, Chattopadhyay S, Chau N, Chen C, Chen Z, Chirkin D, Choi S, Clark BA, Classen L, Coleman A, Collin GH, Connolly A, Conrad JM, Coppin P, Correa P, Cowen DF, Dave P, De Clercq C, DeLaunay JJ, Delgado D, Deng S, Deoskar K, Desai A, Desiati P, de Vries KD, de Wasseige G, DeYoung T, Diaz A, Díaz-Vélez JC, Dittmer M, Domi A, Dujmovic H, DuVernois MA, Ehrhardt T, Eller P, Ellinger E, El Mentawi S, Elsässer D, Engel R, Erpenbeck H, Evans J, Evenson PA, Fan KL, Fang K, Farrag K, Fazely AR, Feigl N, Fiedlschuster S, Fienberg AT, Finley C, Fischer L, Fox D, Franckowiak A, Fritz A, Fürst P, Gallagher J, Ganster E, Garcia A, Gerhardt L, Ghadimi A, Glaser C, … See abstract for full author list ➔ Abbasi R, et al. Among authors: meagher k. Phys Rev Lett. 2024 Apr 12;132(15):151001. doi: 10.1103/PhysRevLett.132.151001. Phys Rev Lett. 2024. PMID: 38682982
A Simple and Cost-Effective Technique to Monitor the Sublimation Flow During Primary Drying of Freeze-Drying Using Shelf Inlet/Outlet Temperature Difference or Chamber to Condenser Pressure Drop.
Authelin JR, Koumurian B, Meagher K, Walsh E, Clavreul T, Rellis B, Gerbeau L, Nakach M, Peral F. Authelin JR, et al. Among authors: meagher k. J Pharm Sci. 2024 Feb 17:S0022-3549(24)00056-X. doi: 10.1016/j.xphs.2024.02.015. Online ahead of print. J Pharm Sci. 2024. PMID: 38369018
Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study.
Ozen A, Chongsrisawat V, Sefer AP, Kolukisa B, Jalbert JJ, Meagher KA, Brackin T, Feldman HB, Baris S, Karakoc-Aydiner E, Ergelen R, Fuss IJ, Moorman H, Suratannon N, Suphapeetiporn K, Perlee L, Harari OA, Yancopoulos GD, Lenardo MJ; Pozelimab CHAPLE Working Group. Ozen A, et al. Among authors: meagher ka. Lancet. 2024 Feb 17;403(10427):645-656. doi: 10.1016/S0140-6736(23)02358-9. Epub 2024 Jan 23. Lancet. 2024. PMID: 38278170 Clinical Trial.
Observation of high-energy neutrinos from the Galactic plane.
IceCube Collaboration*†; Abbasi R, Ackermann M, Adams J, Aguilar JA, Ahlers M, Ahrens M, Alameddine JM, Alves AA Jr, Amin NM, Andeen K, Anderson T, Anton G, Argüelles C, Ashida Y, Athanasiadou S, Axani S, Bai X, Balagopal V A, Barwick SW, Basu V, Baur S, Bay R, Beatty JJ, Becker KH, Tjus JB, Beise J, Bellenghi C, Benda S, BenZvi S, Berley D, Bernardini E, Besson DZ, Binder G, Bindig D, Blaufuss E, Blot S, Boddenberg M, Bontempo F, Book JY, Borowka J, Böser S, Botner O, Böttcher J, Bourbeau E, Bradascio F, Braun J, Brinson B, Bron S, Brostean-Kaiser J, Burley RT, Busse RS, Campana MA, Carnie-Bronca EG, Chen C, Chen Z, Chirkin D, Choi K, Clark BA, Clark K, Classen L, Coleman A, Collin GH, Connolly A, Conrad JM, Coppin P, Correa P, Cowen DF, Cross R, Dappen C, Dave P, De Clercq C, DeLaunay JJ, López DD, Dembinski H, Deoskar K, Desai A, Desiati P, de Vries KD, de Wasseige G, DeYoung T, Diaz A, Díaz-Vélez JC, Dittmer M, Dujmovic H, Dunkman M, DuVernois MA, Ehrhardt T, Eller P, Engel R, Erpenbeck H, Evans J, Evenson PA, Fan KL, Fazely AR, Fedynitch A, Feigl N, Fiedlschuster S, Fienberg AT, Finley C, Fischer L, Fox D, Franckowiak A, Friedman E, Fritz A, Fürst P, Gaisser TK, Gallagher J, … See abstract for full author list ➔ IceCube Collaboration*†, et al. Among authors: meagher k. Science. 2023 Jun 30;380(6652):1338-1343. doi: 10.1126/science.adc9818. Epub 2023 Jun 29. Science. 2023. PMID: 37384687
127 results