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Articles by Peer Arts
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death - Nature Medicine
Correction to: Nature Medicine https://doi.org/10.1038/s41591-022-02142-1. Published online 19 January 2023. This paper was originally published under a standard Springer Nature license (© Crown, under exclusive licence to Springer Nature America, Inc.). It is now available as an open-access paper under a Creative Commons Attribution 4.0 International license, © Crown. The error has been corrected in the HTML and PDF versions of the article.
Integrated multi-omics for rapid rare disease diagnosis on a national scale - Nature Medicine
Ethics The Australian Genomics Acute Care study has Human Research Ethics Committee approval (HREC/16/MH/251). Parents provided informed consent for participation in the study, following genetic counseling. Study design and participants The Acute Care Genomics program is a national multi-site study delivering ultra-rapid genomic testing to critically ill pediatric patients with suspected genetic conditions.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death - Nature Medicine
Abstract Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes.
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses
1,2,3, Peer Arts2,4, Giulio Cavalli1,5,6, Martin Jaeger1,3, Marloes Steehouwer2, Maartje van de Vorst2, Christian Gilissen2,3, Leo A. B. Joosten1,3,7, Charles A. Dinarello1,6, Musa M. Mhlanga2,3,8, Vinod Kumar1,9,10, Mihai G.
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6
Abstract We describe a sibling pair displaying an early infantile-onset, progressive neurodegenerative phenotype, with symptoms of developmental delay and epileptic encephalopathy developing from 12 to 14 months of age. Using whole exome sequencing, compound heterozygous variants were identified in SLC5A6, which encodes the sodium-dependent multivitamin transporter (SMVT) protein. SMVT is an important transporter of the B-group vitamins biotin, pantothenate, and lipoate.
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Peer Arts1, 2, Annet Simons1, Mofareh S. AlZahrani3, Elanur Yilmaz1, 4, Eman AlIdrissi3, Koen J. van Aerde5, Njood Alenezi3, Hamza A. AlGhamdi3, Hadeel A. AlJubab3, Abdulrahman A. Al-Hussaini3, Fahad AlManjomi6, Alaa B. Alsaad3, Badr Alsaleem3, Abdulrahman A. Andijani3, Ali Asery3, Walid Ballourah6, Chantal P. Bleeker-Rovers7, Marcel van Deuren7, Michiel van der Flier5, 8, Erica H. Gerkes9, Christian Gilissen1, Murad K. Habazi3, Jayne Y. Hehir-Kwa1, 10, Stefanie S. Henriet5, Esther P.
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