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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E; Undiagnosed Diseases Network; Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV. Morimoto M, et al. Among authors: reichert s. NPJ Genom Med. 2023 Feb 10;8(1):4. doi: 10.1038/s41525-022-00343-8. NPJ Genom Med. 2023. PMID: 36765070 Free PMC article.
Defining the phenotypic spectrum of SLC6A1 mutations.
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Johannesen KM, et al. Among authors: reichert sc. Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8. Epilepsia. 2018. PMID: 29315614 Free PMC article.
Biallelic TOR1A variants in an infant with severe arthrogryposis.
Reichert SC, Gonzalez-Alegre P, Scharer GH. Reichert SC, et al. Neurol Genet. 2017 May 9;3(3):e154. doi: 10.1212/NXG.0000000000000154. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28516161 Free PMC article. No abstract available.
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Reichert SC, Li R, A Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard MH, Del Toro M, Rodríguez-Palmero A, Fourcade S, Schlüter A, Planas-Serra L, Pujol A, Iascone M, Maitz S, Loong L, Stewart H, De Franco E, Ellard S, Frank J, Lewandowski R. Reichert SC, et al. Clin Genet. 2020 Jul;98(1):91-98. doi: 10.1111/cge.13765. Epub 2020 May 15. Clin Genet. 2020. PMID: 32335897
Unraveling the Predictors for Delirium and ICU Stay Duration in Patients with Heart Failure and Reduced Ejection Fraction (HFrEF) Undergoing Coronary Artery Bypass Grafting-A Multicentric Analysis.
Rustenbach CJ, Reichert S, Berger R, Schano J, Nemeth A, Haeberle H, Charotte C, Caldonazo T, Saqer I, Saha S, Schnackenburg P, Djordjevic I, Krasivskyi I, Wendt S, Serna-Higuita LM, Doenst T, Hagl C, Wahlers T, Schlensak C, Sandoval Boburg R. Rustenbach CJ, et al. Among authors: reichert s. Biomedicines. 2024 Mar 28;12(4):749. doi: 10.3390/biomedicines12040749. Biomedicines. 2024. PMID: 38672105 Free PMC article.
Use of once-daily oral semaglutide and associated clinical outcomes among adults with type 2 diabetes in routine clinical practice in Canada: A multicentre, prospective real-world study (PIONEER REAL Canada).
Jain AB, Reichert SM, Amadid H, Braae UC, Bradley RM, Kim JW, Soo V, Yale JF. Jain AB, et al. Among authors: reichert sm. Diabetes Obes Metab. 2024 May;26(5):1799-1807. doi: 10.1111/dom.15493. Epub 2024 Mar 11. Diabetes Obes Metab. 2024. PMID: 38468125
Mass, Spectroscopy, and Two-Neutron Decay of ^{16}Be.
Monteagudo B, Marqués FM, Gibelin J, Orr NA, Corsi A, Kubota Y, Casal J, Gómez-Camacho J, Authelet G, Baba H, Caesar C, Calvet D, Delbart A, Dozono M, Feng J, Flavigny F, Gheller JM, Giganon A, Gillibert A, Hasegawa K, Isobe T, Kanaya Y, Kawakami S, Kim D, Kiyokawa Y, Kobayashi M, Kobayashi N, Kobayashi T, Kondo Y, Korkulu Z, Koyama S, Lapoux V, Maeda Y, Motobayashi T, Miyazaki T, Nakamura T, Nakatsuka N, Nishio Y, Obertelli A, Ohkura A, Ota S, Otsu H, Ozaki T, Panin V, Paschalis S, Pollacco EC, Reichert S, Rousse JY, Saito AT, Sakaguchi S, Sako M, Santamaria C, Sasano M, Sato H, Shikata M, Shimizu Y, Shindo Y, Stuhl L, Sumikama T, Sun YL, Tabata M, Togano Y, Tsubota J, Uesaka T, Yang ZH, Yasuda J, Yoneda K, Zenihiro J. Monteagudo B, et al. Among authors: reichert s. Phys Rev Lett. 2024 Feb 23;132(8):082501. doi: 10.1103/PhysRevLett.132.082501. Phys Rev Lett. 2024. PMID: 38457706 Free article.
Influence of Obesity on Short-Term Surgical Outcomes in HFrEF Patients Undergoing CABG: A Retrospective Multicenter Study.
Rustenbach CJ, Reichert S, Salewski C, Schano J, Berger R, Nemeth A, Zdanyte M, Häberle H, Caldonazo T, Saqer I, Saha S, Schnackenburg P, Djordjevic I, Krasivskyi I, Serna-Higuita LM, Doenst T, Hagl C, Wahlers T, Schlensak C, Sandoval Boburg R. Rustenbach CJ, et al. Among authors: reichert s. Biomedicines. 2024 Feb 13;12(2):426. doi: 10.3390/biomedicines12020426. Biomedicines. 2024. PMID: 38398028 Free PMC article.
363 results