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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Among authors: schmidt b. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Spinelli E, Christensen KR, Bryant E, Schneider A, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney PW, Andrews PI, El Achkar CM, Berkovic S, Rodan LH; Undiagnosed Diseases Network (UDN); McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL. Spinelli E, et al. Among authors: schmidt b. Ann Neurol. 2021 Aug;90(2):274-284. doi: 10.1002/ana.26147. Epub 2021 Jul 13. Ann Neurol. 2021. PMID: 34185323 Free PMC article.
Observation of New Charmonium or Charmoniumlike States in B^{+}→D^{*±}D^{∓}K^{+} Decays.
Aaij R, Abdelmotteleb ASW, Abellan Beteta C, Abudinén F, Ackernley T, Adefisoye AA, Adeva B, Adinolfi M, Adlarson P, Agapopoulou C, Aidala CA, Ajaltouni Z, Akar S, Akiba K, Albicocco P, Albrecht J, Alessio F, Alexander M, Aliouche Z, Alvarez Cartelle P, Amalric R, Amato S, Amey JL, Amhis Y, An L, Anderlini L, Andersson M, Andreianov A, Andreola P, Andreotti M, Andreou D, Anelli A, Ao D, Archilli F, Argenton M, Arguedas Cuendis S, Artamonov A, Artuso M, Aslanides E, Atzeni M, Audurier B, Bacher D, Bachiller Perea I, Bachmann S, Bachmayer M, Back JJ, Baladron Rodriguez P, Balagura V, Baldini W, Baptista de Souza Leite J, Barbetti M, Barbosa IR, Barlow RJ, Barsuk S, Barter W, Bartolini M, Bartz J, Baryshnikov F, Basels JM, Bassi G, Batsukh B, Battig A, Bay A, Beck A, Becker M, Bedeschi F, Bediaga IB, Beiter A, Belin S, Bellee V, Belous K, Belov I, Belyaev I, Benane G, Bencivenni G, Ben-Haim E, Berezhnoy A, Bernet R, Bernet Andres S, Bertella C, Bertolin A, Betancourt C, Betti F, Bex J, Bezshyiko I, Bhom J, Bieker MS, Biesuz NV, Billoir P, Biolchini A, Birch M, Bishop FCR, Bitadze A, Bizzeti A, Blake T, Blanc F, Blank JE, Blusk S, Bocharnikov V, Boelhauve JA, Boente Garcia O, Boettche… See abstract for full author list ➔ Aaij R, et al. Among authors: schmidt b. Phys Rev Lett. 2024 Sep 27;133(13):131902. doi: 10.1103/PhysRevLett.133.131902. Phys Rev Lett. 2024. PMID: 39392986
Associations of Circulating ANGPTL3, C-Terminal Domain-Containing ANGPTL4, and ANGPTL3/8 and ANGPTL4/8 Complexes with LPL Activity, Diabetes, Inflammation, and Cardiovascular Mortality.
Silbernagel G, Chen YQ, Li H, Lemen D, Wen Y, Zhen EY, Rief M, Kleber ME, Delgado G, Sarzynski MA, Qian YW, Schmidt B, Erbel R, Trampisch U, Moissl AP, Rudolf H, Schunkert H, Stang A, März W, Trampisch HJ, Scharnagl H, Konrad RJ. Silbernagel G, et al. Among authors: schmidt b. Circulation. 2024 Oct 11. doi: 10.1161/CIRCULATIONAHA.124.069272. Online ahead of print. Circulation. 2024. PMID: 39392008
Circulating soluble urokinase plasminogen receptor is reduced by - and predicts early treatment response to therapeutic plasma exchange in septic shock.
Stahl K, Nusshag C, Wendel-Garcia PD, Weigand MA, Bode C; BonHanZA (Bonn-Hannover-Zurich ARDS) Study Group; Seeliger B, Pape T, Schmidt BMW, Schmidt J, Schenk H, Putensen C, Sauer A, Wild L, Peukert K, Reiser J, David S. Stahl K, et al. Among authors: schmidt bmw. J Crit Care. 2024 Oct 9;85:154927. doi: 10.1016/j.jcrc.2024.154927. Online ahead of print. J Crit Care. 2024. PMID: 39388972 No abstract available.
4,203 results