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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: blair j. 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
Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.
Katz OL, Wild KT, McEldrew D, Kaur M, Raible S, Skraban CM, Zackai EH, Medne L, Izumi K, Fortunato S, Weatherly J, Hartman T, Deppen P, Blair J, Devkota B, Schindler E, Hedrick HL, Peranteau W, Krantz ID. Katz OL, et al. Among authors: blair j. J Pediatr. 2022 Jul;246:251-265.e2. doi: 10.1016/j.jpeds.2022.03.023. Epub 2022 Mar 18. J Pediatr. 2022. PMID: 35314152 Review. No abstract available.
Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
Lo E, Blair J, Yamamoto N, Diaz-Miranda MA, Bedoukian E, Gray C, Lawrence A, Dedhia K, Elden LM, Germiller JA, Kazahaya K, Sobol SE, Luo M, Krantz ID, Hartman TR. Lo E, et al. Among authors: blair j. Am J Med Genet A. 2024 May;194(5):e63530. doi: 10.1002/ajmg.a.63530. Epub 2024 Jan 10. Am J Med Genet A. 2024. PMID: 38197511
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: blair jt. Phys Rev Lett. 2024 Apr 26;132(17):172302. doi: 10.1103/PhysRevLett.132.172302. Phys Rev Lett. 2024. PMID: 38728735
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: blair jt. Phys Rev Lett. 2024 Apr 19;132(16):162302. doi: 10.1103/PhysRevLett.132.162302. Phys Rev Lett. 2024. PMID: 38701458
1,425 results