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Page 1
Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.
Gluckman J, Levy T, Friedman K, Garces F, Filip-Dhima R, Quinlan A, Iannotti I, Pekar M, Hernandez AL, Nava MT, Kravets E, Siegel A, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Srivastava S, Buxbaum JD, Sahin M, Kolevzon A, Gelb BD; Developmental Synaptopathies Consortium. Gluckman J, et al. Am J Med Genet A. 2025 Jan;197(1):e63872. doi: 10.1002/ajmg.a.63872. Epub 2024 Sep 11. Am J Med Genet A. 2025. PMID: 39257296
Genetic Predisposition to Neurological Complications in Patients with COVID-19.
Sahajpal NS, Hastie AR, Schieck M, Mondal AK, Felde M, van der Made CI, Chou JS, Randolph AG, Illig T, Zody MC, Brownstein CA, Beggs AH, Hoischen A, Chaubey A, Kolhe R; COVID19hostgenomesv Consortium. Sahajpal NS, et al. Biomolecules. 2023 Jan 9;13(1):133. doi: 10.3390/biom13010133. Biomolecules. 2023. PMID: 36671517 Free PMC article.
Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.
Srivastava S, Condy E, Carmody E, Filip-Dhima R, Kapur K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya L, Thurm A, Buxbaum JD, Sahin M, Kolevzon AL; Developmental Synaptopathies Consortium. Srivastava S, et al. J Neurodev Disord. 2021 Nov 5;13(1):53. doi: 10.1186/s11689-021-09398-7. J Neurodev Disord. 2021. PMID: 34740315 Free PMC article.
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19.
Sahajpal NS, Jill Lai CY, Hastie A, Mondal AK, Dehkordi SR, van der Made CI, Fedrigo O, Al-Ajli F, Jalnapurkar S, Byrska-Bishop M, Kanagal-Shamanna R, Levy B, Schieck M, Illig T, Bacanu SA, Chou JS, Randolph AG, Rojiani AM, Zody MC, Brownstein CA, Beggs AH, Bafna V, Jarvis ED, Hoischen A, Chaubey A, Kolhe R; COVID19hostgenomesv Consortium. Sahajpal NS, et al. iScience. 2022 Feb 18;25(2):103760. doi: 10.1016/j.isci.2022.103760. Epub 2022 Jan 10. iScience. 2022. PMID: 35036860 Free PMC article.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin JR, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio FD, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, Busa T,… See abstract for full author list ➔ Cleynen I, et al. Mol Psychiatry. 2021 Aug;26(8):4496-4510. doi: 10.1038/s41380-020-0654-3. Epub 2020 Feb 3. Mol Psychiatry. 2021. PMID: 32015465 Free PMC article.