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A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.
Rahikkala E, Urpa L, Ghimire B, Topa H, Kurki MI, Koskela M, Airavaara M, Hämäläinen E, Pylkäs K, Körkkö J, Savolainen H, Suoranta A, Bertoli-Avella A, Rolfs A, Mattila P, Daly M, Palotie A, Pietiläinen O, Moilanen J, Kuismin O. Rahikkala E, et al. Among authors: rolfs a. Eur J Hum Genet. 2022 May;30(5):619-627. doi: 10.1038/s41431-022-01046-5. Epub 2022 Jan 28. Eur J Hum Genet. 2022. PMID: 35087184 Free PMC article.
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R. Trujillano D, et al. Among authors: rolfs a. Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848944 Free PMC article.
A comprehensive global genotype-phenotype database for rare diseases.
Trujillano D, Oprea GE, Schmitz Y, Bertoli-Avella AM, Abou Jamra R, Rolfs A. Trujillano D, et al. Among authors: rolfs a. Mol Genet Genomic Med. 2016 Nov 23;5(1):66-75. doi: 10.1002/mgg3.262. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116331 Free PMC article.
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
Vieira P, Cameron J, Rahikkala E, Keski-Filppula R, Zhang LH, Santra S, Matthews A, Myllynen P, Nuutinen M, Moilanen JS, Rodenburg RJ, Rolfs A, Uusimaa J, van Karnebeek CDM. Vieira P, et al. Among authors: rolfs a. Mol Genet Metab. 2017 Apr;120(4):337-341. doi: 10.1016/j.ymgme.2017.02.003. Epub 2017 Feb 6. Mol Genet Metab. 2017. PMID: 28216384
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yüksel Z, Marais A, Grüning NM, Abbasi Moheb L, Paknia O, Alshaikh N, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: rolfs a. Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15. Eur J Hum Genet. 2018. PMID: 29449720 Free PMC article.
Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
Hollink IHIM, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, de Man SA, Abou Jamra R, Rolfs A, Bertoli-Avella AM, van de Laar IMBH. Hollink IHIM, et al. Among authors: rolfs a. J Hum Genet. 2018 Apr;63(4):539. doi: 10.1038/s10038-017-0373-z. Epub 2018 Mar 8. J Hum Genet. 2018. PMID: 29576627
Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
Bauer P, Kandaswamy KK, Weiss MER, Paknia O, Werber M, Bertoli-Avella AM, Yüksel Z, Bochinska M, Oprea GE, Kishore S, Weckesser V, Karges E, Rolfs A. Bauer P, et al. Among authors: rolfs a. Genet Med. 2019 Jan;21(1):53-61. doi: 10.1038/s41436-018-0016-6. Epub 2018 Aug 13. Genet Med. 2019. PMID: 30100613 Free PMC article.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D. Bramswig NC, et al. Among authors: rolfs a. Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23. Hum Genet. 2018. PMID: 30167850 Free PMC article.
427 results