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Page 1
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW. Cousin MA, et al. Among authors: mclaughlin j. Genome Med. 2022 Jun 13;14(1):62. doi: 10.1186/s13073-022-01064-4. Genome Med. 2022. PMID: 35698242 Free PMC article.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study; Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Snijders Blok L, et al. Among authors: mclaughlin j. Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235985 Free PMC article.
Effectiveness of the BNT162b2 XBB.1.5-adapted vaccine against COVID-19 hospitalization related to the JN.1 variant in Europe: a test-negative case-control study using the id.DRIVE platform.
Nguyen JL, Mitratza M, Volkman HR, de Munter L, Tran TMP, Marques C, Mustapha M, Valluri S, Yang J, Antón A, Casas I, Conde-Sousa E, Drikite L, Grüner B, Icardi G, Ten Kate GL, Martin C, Mira-Iglesias A, Orrico-Sánchez A, Otero-Romero S, Rohde G, Jodar L, McLaughlin JM, Bollaerts K. Nguyen JL, et al. Among authors: mclaughlin jm. EClinicalMedicine. 2024 Dec 9;79:102995. doi: 10.1016/j.eclinm.2024.102995. eCollection 2025 Jan. EClinicalMedicine. 2024. PMID: 39726669 Free PMC article.
Constraints on Covariant Dark-Matter-Nucleon Effective Field Theory Interactions from the First Science Run of the LUX-ZEPLIN Experiment.
Aalbers J, Akerib DS, Al Musalhi AK, Alder F, Amarasinghe CS, Ames A, Anderson TJ, Angelides N, Araújo HM, Armstrong JE, Arthurs M, Baker A, Balashov S, Bang J, Barillier EE, Bargemann JW, Beattie K, Benson T, Bhatti A, Biekert A, Biesiadzinski TP, Birch HJ, Bishop EJ, Blockinger GM, Boxer B, Brew CAJ, Brás P, Burdin S, Buuck M, Carmona-Benitez MC, Carter M, Chawla A, Chen H, Cherwinka JJ, Chin YT, Chott NI, Converse MV, Cottle A, Cox G, Curran D, Dahl CE, David A, Delgaudio J, Dey S, de Viveiros L, Di Felice L, Ding C, Dobson JEY, Druszkiewicz E, Eriksen SR, Fan A, Fearon NM, Fiorucci S, Flaecher H, Fraser ED, Fruth TMA, Gaitskell RJ, Geffre A, Genovesi J, Ghag C, Gibbons R, Gokhale S, Green J, van der Grinten MGD, Haiston JJ, Hall CR, Han S, Hartigan-O'Connor E, Haselschwardt SJ, Hernandez MA, Hertel SA, Heuermann G, Homenides GJ, Horn M, Huang DQ, Hunt D, Jacquet E, James RS, Johnson J, Kaboth AC, Kamaha AC, Kannichankandy M, Khaitan D, Khazov A, Khurana I, Kim JD, Kim J, Kingston J, Kirk R, Kodroff D, Korley L, Korolkova EV, Kraus H, Kravitz S, Kreczko L, Kudryavtsev VA, Leonard DS, Lesko KT, Levy C, Lin J, Lindote A, Linehan R, Lippincott WH, Lopes MI, Lorenzon W, Lu C, Luitz… See abstract for full author list ➔ Aalbers J, et al. Among authors: mclaughlin j, mclaughlin jb. Phys Rev Lett. 2024 Nov 29;133(22):221801. doi: 10.1103/PhysRevLett.133.221801. Phys Rev Lett. 2024. PMID: 39672140
BNT162b2 XBB Vaccine for COVID-19 Among Children 5-17 Years of Age.
Tartof SY, Frankland TB, Puzniak L, Slezak JM, Ackerson BK, Hong V, Stern J, Zamparo JM, Chowdhry H, Spence B, Davis GS, Jodar L, McLaughlin JM. Tartof SY, et al. Among authors: mclaughlin jm. JAMA Netw Open. 2024 Dec 2;7(12):e2449944. doi: 10.1001/jamanetworkopen.2024.49944. JAMA Netw Open. 2024. PMID: 39666343 Free PMC article.
Osteonecrosis of the Femoral Head: Core Decompression Systems.
Njoku I, Pasqualini I, Huffman N, Khan ST, Jevnikar BE, McLaughlin JP, Mont MA, Piuzzi NS, Deren ME. Njoku I, et al. Among authors: mclaughlin jp. Surg Technol Int. 2024 Oct 7;45:sti45/1845. Online ahead of print. Surg Technol Int. 2024. PMID: 39660993
2,841 results