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De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A. Ha T, et al. Among authors: braun d. Am J Med Genet A. 2024 Feb 29:e63559. doi: 10.1002/ajmg.a.63559. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421105 Free article.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. Among authors: braun d. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation.
Oestreich MA, Keller F, Bovermann X, Braun D, Schiller R, Raio L, Zweier C, Casaulta C, Usemann J, Kidszun A, Popa-Todirenchi MH. Oestreich MA, et al. Among authors: braun d. Klin Padiatr. 2024 Feb;236(2):145-147. doi: 10.1055/a-2235-6201. Epub 2024 Jan 15. Klin Padiatr. 2024. PMID: 38224688 English. No abstract available.
Associations of street-view greenspace with Parkinson's disease hospitalizations in an open cohort of elderly US Medicare beneficiaries.
Klompmaker JO, Mork D, Zanobetti A, Braun D, Hankey S, Hart JE, Hystad P, Jimenez MP, Laden F, Larkin A, Lin PD, Suel E, Yi L, Zhang W, Delaney SW, James P. Klompmaker JO, et al. Among authors: braun d. Environ Int. 2024 May 11;188:108739. doi: 10.1016/j.envint.2024.108739. Online ahead of print. Environ Int. 2024. PMID: 38754245
Costs and acceptability of simplified monitoring in HIV-suppressed patients switching to dual therapy: the SIMPL'HIV open-label, factorial randomised controlled trial.
Marinosci A, Sculier D, Wandeler G, Yerly S, Stoeckle M, Bernasconi E, Braun DL, Vernazza P, Cavassini M, Buzzi M, Metzner KJ, Decosterd L, Günthard HF, Schmid P, Limacher A, Branca M, Calmy A. Marinosci A, et al. Among authors: braun dl. Swiss Med Wkly. 2024 Apr 15;154:3762. doi: 10.57187/s.3762. Swiss Med Wkly. 2024. PMID: 38754068 Free article. Clinical Trial.
Right ventricular to pulmonary artery coupling in patients with different types of aortic stenosis undergoing TAVI.
Steffen J, Lux M, Stocker TJ, Kneidinger N, Löw K, Doldi PM, Haum M, Fischer J, Stolz L, Theiss H, Rizas K, Braun D, Orban M, Peterß S, Hausleiter J, Massberg S, Deseive S. Steffen J, et al. Among authors: braun d. Clin Res Cardiol. 2024 May 15. doi: 10.1007/s00392-024-02457-8. Online ahead of print. Clin Res Cardiol. 2024. PMID: 38748208
Trends in mortality in people with HIV from 1999 to 2020: a multi-cohort collaboration.
Tusch E, Ryom L, Pelchen-Matthews A, Mocroft A, Elbirt D, Oprea C, Günthard HF, Staehelin C, Zangerle R, Suarez I, Vehreschild JJ, Wit F, Menozzi M, d'Arminio Monforte A, Spagnuolo V, Pradier C, Carlander C, Suanzes P, Wasmuth JC, Carr A, Petoumenos K, Borgans F, Bonnet F, De Wit S, El-Sadr W, Neesgaard B, Jaschinski N, Greenberg L, Hosein SR, Gallant J, Vannappagari V, Young L, Sabin C, Lundgren J, Peters L, Reekie J; D:A:D cohort study; RESPOND cohort study. Tusch E, et al. Clin Infect Dis. 2024 Apr 26:ciae228. doi: 10.1093/cid/ciae228. Online ahead of print. Clin Infect Dis. 2024. PMID: 38663013
1,703 results