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Page 1
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Among authors: quteineh l. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20. Am J Hum Genet. 2022. PMID: 36130591 Free PMC article.
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK. Oates S, et al. Among authors: quteineh l. Clin Genet. 2021 Oct;100(4):412-429. doi: 10.1111/cge.14023. Epub 2021 Jul 16. Clin Genet. 2021. PMID: 34216016 Free article.
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A. Van Heurck R, et al. Among authors: quteineh l. Genes (Basel). 2021 Aug 20;12(8):1277. doi: 10.3390/genes12081277. Genes (Basel). 2021. PMID: 34440452 Free PMC article.
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, Visser… See abstract for full author list ➔ Rots D, et al. Among authors: quteineh l. Am J Hum Genet. 2024 Aug 8;111(8):1626-1642. doi: 10.1016/j.ajhg.2024.06.009. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013459
Genetic immune and inflammatory markers associated with diabetes in solid organ transplant recipients.
Quteineh L, Wójtowicz A, Bochud PY, Crettol S, Vandenberghe F, Venetz JP, Manuel O, Golshayan D, Lehmann R, Mueller NJ, Binet I, van Delden C, Steiger J, Mohacsi P, Dufour JF, Soccal PM, Kutalik Z, Marques-Vidal P, Vollenweider P, Recher M, Hess C, Pascual M, Eap CB; Swiss Transplant Cohort Study. Quteineh L, et al. Am J Transplant. 2019 Jan;19(1):238-246. doi: 10.1111/ajt.14971. Epub 2018 Jul 13. Am J Transplant. 2019. PMID: 29920932 Free article.
Genetic and clinic predictors of new onset diabetes mellitus after transplantation.
Saigi-Morgui N, Quteineh L, Bochud PY, Crettol S, Kutalik Z, Mueller NJ, Binet I, Van Delden C, Steiger J, Mohacsi P, Dufour JF, Soccal PM, Pascual M, Eap CB; Swiss Transplant Cohort Study. Saigi-Morgui N, et al. Among authors: quteineh l. Pharmacogenomics J. 2019 Feb;19(1):53-64. doi: 10.1038/s41397-017-0001-5. Epub 2017 Dec 27. Pharmacogenomics J. 2019. PMID: 29282365
Association of variants in SH2B1 and RABEP1 with worsening of low-density lipoprotein and glucose parameters in patients treated with psychotropic drugs.
Delacrétaz A, Zdralovic A, Vandenberghe F, Saigi-Morgui N, Glatard A, Quteineh L, Gholam-Rezaee M, Raffoul W, Applegate LA, Jafari P, Gamma F, von Gunten A, Conus P, Eap CB. Delacrétaz A, et al. Among authors: quteineh l. Gene. 2017 Sep 10;628:8-15. doi: 10.1016/j.gene.2017.07.005. Epub 2017 Jul 8. Gene. 2017. PMID: 28694205 Free article.
Weighted Genetic Risk Scores and Prediction of Weight Gain in Solid Organ Transplant Populations.
Saigi-Morgui N, Quteineh L, Bochud PY, Crettol S, Kutalik Z, Wojtowicz A, Bibert S, Beckmann S, Mueller NJ, Binet I, van Delden C, Steiger J, Mohacsi P, Stirnimann G, Soccal PM, Pascual M, Eap CB; Swiss Transplant Cohort Study. Saigi-Morgui N, et al. Among authors: quteineh l. PLoS One. 2016 Oct 27;11(10):e0164443. doi: 10.1371/journal.pone.0164443. eCollection 2016. PLoS One. 2016. PMID: 27788139 Free PMC article.
24 results