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Page 1
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Jamra RA, Gabriel H, Rentas S, Rippert AL, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Pehlivan D, Posey JE, Lippa N, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid M, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J. Dharmadhikari AV, et al. Among authors: aggarwal vs. medRxiv [Preprint]. 2024 Jan 9:2024.01.09.23300329. doi: 10.1101/2024.01.09.23300329. medRxiv. 2024. PMID: 38260255 Free PMC article. Preprint.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O'Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weisburd B, Jalili V, Fu J, Wong I, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Lemire G, Aggarwal VS, Lucente D, Gauthier LD, Tolonen C, Sahakian N, Stevens C, An JY, Dong S, Norton ME, MacKenzie TC, Devlin B, Gilmore K, Powell BC, Brandt A, Vetrini F, DiVito M, Sanders SJ, MacArthur DG, Hodge JC, O'Donnell-Luria A, Rehm HL, Vora NL, Levy B, Brand H, Wapner RJ, Talkowski ME. Lowther C, et al. Among authors: aggarwal vs. Am J Hum Genet. 2023 Sep 7;110(9):1454-1469. doi: 10.1016/j.ajhg.2023.07.010. Epub 2023 Aug 17. Am J Hum Genet. 2023. PMID: 37595579 Free PMC article.
Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies.
Jain NG, Ahram DF, Marasa M, Rehman AU, May HJ, Zacharoulis S, Revah-Politi A, Florido ME, Whittemore GB, Aggarwal VS, Hargus G, Anyane-Yeboa K, D'Agati VD, Lin F, Jobanputra V, Sanna-Cherchi S. Jain NG, et al. Among authors: aggarwal vs. Kidney Int Rep. 2022 Aug 7;7(10):2312-2316. doi: 10.1016/j.ekir.2022.07.174. eCollection 2022 Oct. Kidney Int Rep. 2022. PMID: 36217514 Free PMC article. No abstract available.
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.
Cohen A, Hostyk J, Baugh EH, Buchovecky CM, Aggarwal VS, Recker RR, Lappe JM, Dempster DW, Zhou H, Kamanda-Kosseh M, Bucovsky M, Stubby J, Goldstein DB, Shane E. Cohen A, et al. Among authors: aggarwal vs. Bone. 2022 Jan;154:116253. doi: 10.1016/j.bone.2021.116253. Epub 2021 Nov 4. Bone. 2022. PMID: 34743040 Free PMC article.
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D. Van De Weghe JC, et al. Among authors: aggarwal vs. HGG Adv. 2021 Jan 14;2(1):100016. doi: 10.1016/j.xhgg.2020.100016. Epub 2020 Nov 21. HGG Adv. 2021. PMID: 33791682 Free PMC article.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V; Undiagnosed Diseases Network; Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A; UCLA Clinical Genomics Center; John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S. Weng PL, et al. Among authors: aggarwal vs. Am J Hum Genet. 2021 Feb 4;108(2):357-367. doi: 10.1016/j.ajhg.2021.01.008. Epub 2021 Jan 27. Am J Hum Genet. 2021. PMID: 33508234 Free PMC article.
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.
Alkelai A, Shohat S, Greenbaum L, Schechter T, Draiman B, Chitrit-Raveh E, Rienstein S, Dagaonkar N, Hughes D, Aggarwal VS, Heinzen EL, Shifman S, Goldstein DB, Kohn Y. Alkelai A, et al. Among authors: aggarwal vs. J Hum Genet. 2021 Mar;66(3):339-343. doi: 10.1038/s10038-020-00846-1. Epub 2020 Sep 18. J Hum Genet. 2021. PMID: 32948840
Pilot Study of Return of Genetic Results to Patients in Adult Nephrology.
Nestor JG, Marasa M, Milo-Rasouly H, Groopman EE, Husain SA, Mohan S, Fernandez H, Aggarwal VS, Ahram DF, Vena N, Bogyo K, Bomback AS, Radhakrishnan J, Appel GB, Ahn W, Cohen DJ, Canetta PA, Dube GK, Rao MK, Morris HK, Crew RJ, Sanna-Cherchi S, Kiryluk K, Gharavi AG. Nestor JG, et al. Among authors: aggarwal vs. Clin J Am Soc Nephrol. 2020 May 7;15(5):651-664. doi: 10.2215/CJN.12481019. Epub 2020 Apr 16. Clin J Am Soc Nephrol. 2020. PMID: 32299846 Free PMC article.
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