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A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperón-Moldes US, Kaare M, Nokelainen PT, Batzir NA, Hoffer GZ, Paul N, Stemmelen T, Naegely L, Hanauer A, Bibi-Triki S, Grün S, Jung S, Busnelli I, Tripolszki K, Al-Ali R, Ordonez N, Bauer P, Song E, Zajo K, Partida-Sanchez S, Robledo-Avila F, Kumanovics A, Louzoun Y, Hirschler A, Pichot A, Toker O, Mejía CAM, Parvaneh N, Knapp E, Hersh JH, Kenney H, Delmonte OM, Notarangelo LD, Goetz JG, Kahwash SB, Carapito C, Bajwa RPS, Thomas C, Ehl S, Isidor B, Carapito R, Abraham RS, Hite RK, Marcus N, Bertoli-Avella A, Bahram S. Molitor A, et al. Among authors: hersh jh. Sci Adv. 2024 Sep 13;10(37):eado5545. doi: 10.1126/sciadv.ado5545. Epub 2024 Sep 13. Sci Adv. 2024. PMID: 39270020 Free PMC article.
Cognitive Motor Dissociation in Disorders of Consciousness.
Bodien YG, Allanson J, Cardone P, Bonhomme A, Carmona J, Chatelle C, Chennu S, Conte M, Dehaene S, Finoia P, Heinonen G, Hersh JE, Kamau E, Lawrence PK, Lupson VC, Meydan A, Rohaut B, Sanders WR, Sitt JD, Soddu A, Valente M, Velazquez A, Voss HU, Vrosgou A, Claassen J, Edlow BL, Fins JJ, Gosseries O, Laureys S, Menon D, Naccache L, Owen AM, Pickard J, Stamatakis EA, Thibaut A, Victor JD, Giacino JT, Bagiella E, Schiff ND. Bodien YG, et al. Among authors: hersh je. N Engl J Med. 2024 Aug 15;391(7):598-608. doi: 10.1056/NEJMoa2400645. N Engl J Med. 2024. PMID: 39141852 Free article.
Peptide-Modified Biopolymers for Biomedical Applications.
Hersh J, Broyles D, Capcha JMC, Dikici E, Shehadeh LA, Daunert S, Deo S. Hersh J, et al. ACS Appl Bio Mater. 2021 Jan 18;4(1):229-251. doi: 10.1021/acsabm.0c01145. Epub 2020 Dec 24. ACS Appl Bio Mater. 2021. PMID: 34250454 Free PMC article. Review.
Monitoring war destruction from space using machine learning.
Mueller H, Groeger A, Hersh J, Matranga A, Serrat J. Mueller H, et al. Among authors: hersh j. Proc Natl Acad Sci U S A. 2021 Jun 8;118(23):e2025400118. doi: 10.1073/pnas.2025400118. Proc Natl Acad Sci U S A. 2021. PMID: 34083439 Free PMC article.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Among authors: hersh j. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
158 results