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Year Number of Results
2014 2
2015 2
2016 1
2018 1
2019 1
2020 1
2021 10
2022 4
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19 results
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Page 1
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW. Harris HK, et al. Among authors: bupp cp. Genet Med. 2021 Jun;23(6):1028-1040. doi: 10.1038/s41436-021-01114-z. Epub 2021 Mar 3. Genet Med. 2021. PMID: 33658631 Free article.
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.
VanSickle EA, Michael J, Bachmann AS, Rajasekaran S, Prokop JW, Kuzniecky R, Hofstede FC, Steindl K, Rauch A, Lipson MH, Bupp CP. VanSickle EA, et al. Among authors: bupp cp. Am J Med Genet A. 2021 Nov;185(11):3485-3493. doi: 10.1002/ajmg.a.62473. Epub 2021 Sep 3. Am J Med Genet A. 2021. PMID: 34477286 Free PMC article.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Švantnerová J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M. Brunet T, et al. Among authors: bupp cp. Genet Med. 2021 Feb;23(2):384-395. doi: 10.1038/s41436-020-00993-y. Epub 2020 Nov 11. Genet Med. 2021. PMID: 33173220 Free PMC article.
Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development.
Prokop JW, Bupp CP, Frisch A, Bilinovich SM, Campbell DB, Vogt D, Schultz CR, Uhl KL, VanSickle E, Rajasekaran S, Bachmann AS. Prokop JW, et al. Among authors: bupp cp. Genes (Basel). 2021 Mar 25;12(4):470. doi: 10.3390/genes12040470. Genes (Basel). 2021. PMID: 33806076 Free PMC article.
Balancing precision versus cohort transcriptomic analysis of acute and recovery phase of viral bronchiolitis.
Gupta R, Leimanis ML, Adams M, Bachmann AS, Uhl KL, Bupp CP, Hartog NL, Kort EJ, Olivero R, Comstock SS, Sanfilippo DJ, Lunt SY, Prokop JW, Rajasekaran S. Gupta R, et al. Among authors: bupp cp. Am J Physiol Lung Cell Mol Physiol. 2021 Jun 1;320(6):L1147-L1157. doi: 10.1152/ajplung.00440.2020. Epub 2021 Apr 14. Am J Physiol Lung Cell Mol Physiol. 2021. PMID: 33851876 Free PMC article.
High-Density Blood Transcriptomics Reveals Precision Immune Signatures of SARS-CoV-2 Infection in Hospitalized Individuals.
Prokop JW, Hartog NL, Chesla D, Faber W, Love CP, Karam R, Abualkheir N, Feldmann B, Teng L, McBride T, Leimanis ML, English BK, Holsworth A, Frisch A, Bauss J, Kalpage N, Derbedrossian A, Pinti RM, Hale N, Mills J, Eby A, VanSickle EA, Pageau SC, Shankar R, Chen B, Carcillo JA, Sanfilippo D, Olivero R, Bupp CP, Rajasekaran S. Prokop JW, et al. Among authors: bupp cp. Front Immunol. 2021 Jul 16;12:694243. doi: 10.3389/fimmu.2021.694243. eCollection 2021. Front Immunol. 2021. PMID: 34335605 Free PMC article.
CCR5 and Biological Complexity: The Need for Data Integration and Educational Materials to Address Genetic/Biological Reductionism at the Interface of Ethical, Legal, and Social Implications.
Bauss J, Morris M, Shankar R, Olivero R, Buck LN, Stenger CL, Hinds D, Mills J, Eby A, Zagorski JW, Smith C, Cline S, Hartog NL, Chen B, Huss J, Carcillo JA, Rajasekaran S, Bupp CP, Prokop JW. Bauss J, et al. Among authors: bupp cp. Front Immunol. 2021 Dec 2;12:790041. doi: 10.3389/fimmu.2021.790041. eCollection 2021. Front Immunol. 2021. PMID: 34925370 Free PMC article.
Computational and Experimental Analysis of Genetic Variants.
Prokop JW, Jdanov V, Savage L, Morris M, Lamb N, VanSickle E, Stenger CL, Rajasekaran S, Bupp CP. Prokop JW, et al. Among authors: bupp cp. Compr Physiol. 2022 Mar 29;12(2):3303-3336. doi: 10.1002/cphy.c210012. Compr Physiol. 2022. PMID: 35578967
19 results