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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: roy b, roy s. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
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: roy s. Phys Rev Lett. 2024 Apr 26;132(17):172302. doi: 10.1103/PhysRevLett.132.172302. Phys Rev Lett. 2024. PMID: 38728735
Deciphering Charge Transfer Processes in Transition Metal Complexes from the Perspective of Ultrafast Electronic and Nuclear Motions.
Mara MW, Weingartz NP, Leshchev D, Hsu D, Valentine A, Mills A, Roy S, Chakraborty A, Kim P, Biasin E, Haldrup K, Kirschner MS, Rimmerman D, Chollet M, Glownia JM, van Driel TB, Castellano FN, Li X, Chen LX. Mara MW, et al. Among authors: roy s. J Phys Chem Lett. 2024 May 9:5250-5258. doi: 10.1021/acs.jpclett.4c00735. Online ahead of print. J Phys Chem Lett. 2024. PMID: 38722188
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