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Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E, Wilsdon A, Breckpot J, Izarzugaza JMG, Fitzgerald TW, Kahlert AK, Sifrim A, Wünnemann F, Perez-Riverol Y, Abdul-Khaliq H, Bak M, Bassett AS, Benson DW, Berger F, Daehnert I, Devriendt K, Dittrich S, Daubeney PE, Garg V, Hackmann K, Hoff K, Hofmann P, Dombrowsky G, Pickardt T, Bauer U, Keavney BD, Klaassen S, Kramer HH, Marshall CR, Milewicz DM, Lemaire S, Coselli JS, Mitchell ME, Tomita-Mitchell A, Prakash SK, Stamm K, Stewart AFR, Silversides CK, Siebert R, Stiller B, Rosenfeld JA, Vater I, Postma AV, Caliebe A, Brook JD, Andelfinger G, Hurles ME, Thienpont B, Larsen LA, Hitz MP. Audain E, et al. Among authors: marshall cr. PLoS Genet. 2021 Sep 21;17(9):e1009809. doi: 10.1371/journal.pgen.1009809. eCollection 2021 Sep. PLoS Genet. 2021. PMID: 34547032 Free PMC article.
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. Demaerel W, et al. Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011. Am J Hum Genet. 2018. PMID: 30193139 Free PMC article. No abstract available.
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. Demaerel W, et al. Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965848 Free PMC article. Retracted.
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y, Vong L, Merico D, Abrego Fuentes L, Scott O, Sham M, Fraser M, Watts-Dickens A, Willett Pachul J, Kim VHD, Marshall CR, Scherer S, Roifman CM. Pasternak Y, et al. Among authors: marshall cr. J Allergy Clin Immunol Glob. 2024 Apr 23;3(3):100267. doi: 10.1016/j.jacig.2024.100267. eCollection 2024 Aug. J Allergy Clin Immunol Glob. 2024. PMID: 38800615 Free PMC article.
Symptom-based staging for logopenic variant primary progressive aphasia.
Hardy CJD, Taylor-Rubin C, Taylor B, Harding E, Gonzalez AS, Jiang J, Thompson L, Kingma R, Chokesuwattanaskul A, Walker F, Barker S, Brotherhood E, Waddington C, Wood O, Zimmermann N, Kupeli N, Yong KXX, Camic PM, Stott J, Marshall CR, Oxtoby NP, Rohrer JD, O'Shea F, Volkmer A, Crutch SJ, Warren JD. Hardy CJD, et al. Among authors: marshall cr. Eur J Neurol. 2024 Apr 26:e16304. doi: 10.1111/ene.16304. Online ahead of print. Eur J Neurol. 2024. PMID: 38666798
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Oh RY, AlMail A, Cheerie D, Guirguis G, Hou H, Yuki KE, Haque B, Thiruvahindrapuram B, Marshall CR, Mendoza-Londono R, Shlien A, Kyriakopoulou LG, Walker S, Dowling JJ, Wilson MD, Costain G. Oh RY, et al. Among authors: marshall cr. HGG Adv. 2024 Apr 24;5(3):100299. doi: 10.1016/j.xhgg.2024.100299. Online ahead of print. HGG Adv. 2024. PMID: 38659227 Free article.
Neuroanatomical and prognostic associations of depression in Parkinson's disease.
Badenoch JB, Paris A, Jacobs BM, Noyce AJ, Marshall CR, Waters S. Badenoch JB, et al. Among authors: marshall cr. J Neurol Neurosurg Psychiatry. 2024 Apr 3:jnnp-2023-333007. doi: 10.1136/jnnp-2023-333007. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 38569876 Free article.
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Fehlings DL, Zarrei M, Engchuan W, Sondheimer N, Thiruvahindrapuram B, MacDonald JR, Higginbotham EJ, Thapa R, Behlim T, Aimola S, Switzer L, Ng P, Wei J, Danthi PS, Pellecchia G, Lamoureux S, Ho K, Pereira SL, de Rijke J, Sung WWL, Mowjoodi A, Howe JL, Nalpathamkalam T, Manshaei R, Ghaffari S, Whitney J, Patel RV, Hamdan O, Shaath R, Trost B, Knights S, Samdup D, McCormick A, Hunt C, Kirton A, Kawamura A, Mesterman R, Gorter JW, Dlamini N, Merico D, Hilali M, Hirschfeld K, Grover K, Bautista NX, Han K, Marshall CR, Yuen RKC, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Maxwell G, Shevell M, Costain G, Michaud JL, Hamdan FF, Gauthier J, Uguen K, Stavropoulos DJ, Wintle RF, Oskoui M, Scherer SW. Fehlings DL, et al. Among authors: marshall cr. Nat Genet. 2024 Apr;56(4):585-594. doi: 10.1038/s41588-024-01686-x. Epub 2024 Mar 29. Nat Genet. 2024. PMID: 38553553
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Jobanputra V, Schroeder B, Rehm HL, Shen W, Spiteri E, Nakouzi G, Taylor S, Marshall CR, Meng L, Kingsmore SF, Ellsworth K, Ashley E, Taft RJ; Medical Genome Initiative. Jobanputra V, et al. Among authors: marshall cr. NPJ Genom Med. 2024 Mar 27;9(1):23. doi: 10.1038/s41525-024-00410-2. NPJ Genom Med. 2024. PMID: 38538605 Free PMC article. No abstract available.
389 results