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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 4
2004 5
2005 1
2006 2
2007 5
2008 5
2009 6
2010 7
2011 9
2012 7
2013 11
2014 15
2015 8
2016 12
2017 14
2018 19
2019 29
2020 27
2021 28
2022 22
2023 25
2024 16

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238 results

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Page 1
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.
Lunke S, Bouffler SE, Downie L, Caruana J, Amor DJ, Archibald A, Bombard Y, Christodoulou J, Clausen M, De Fazio P, Greaves RF, Hollizeck S, Kanga-Parabia A, Lang N, Lynch F, Peters R, Sadedin S, Tutty E, Eggers S, Lee C, Wall M, Yeung A, Gaff C, Gyngell C, Vears DF, Best S, Goranitis I, Stark Z. Lunke S, et al. Among authors: amor dj. BMJ Open. 2024 Apr 3;14(4):e081426. doi: 10.1136/bmjopen-2023-081426. BMJ Open. 2024. PMID: 38569677 Free article.
Hypotonic cerebral palsy.
Cooper MS, Antolovich GC, Fahey MC, Amor DJ. Cooper MS, et al. Among authors: amor dj. Child Care Health Dev. 2024 May;50(3):e13258. doi: 10.1111/cch.13258. Child Care Health Dev. 2024. PMID: 38558298 No abstract available.
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D, Amor DJ, Boggs K, Baker N, Barnett C, de Silva MG, Edwards S, Fahey MC, Marum JE, Snell P, Bozaoglu K, Pope K, Mohammad SS, Riney K, Sachdev R, Scheffer IE, Schenscher S, Silberstein J, Smith N, Tom M, Ware TL, Lockhart PJ, Leventer RJ. Kooshavar D, et al. Among authors: amor dj. Brain Commun. 2024 Feb 28;6(2):fcae056. doi: 10.1093/braincomms/fcae056. eCollection 2024. Brain Commun. 2024. PMID: 38444904 Free PMC article.
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
Forbes EJ, Morison LD, Lelik F, Howell T, Debono S, Goel H, Burger P, Mandel JL, Geneviève D, Amor DJ, Morgan AT. Forbes EJ, et al. Among authors: amor dj. Am J Med Genet B Neuropsychiatr Genet. 2024 Feb 29:e32971. doi: 10.1002/ajmg.b.32971. Online ahead of print. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38421120
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A. Ha T, et al. Among authors: amor dj. Am J Med Genet A. 2024 Feb 29:e63559. doi: 10.1002/ajmg.a.63559. Online ahead of print. Am J Med Genet A. 2024. PMID: 38421105 Free article.
Genetic architecture of childhood speech disorder: a review.
Morgan AT, Amor DJ, St John MD, Scheffer IE, Hildebrand MS. Morgan AT, et al. Among authors: amor dj. Mol Psychiatry. 2024 Feb 16. doi: 10.1038/s41380-024-02409-8. Online ahead of print. Mol Psychiatry. 2024. PMID: 38366112 Review.
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.
Morison LD, Van Reyk O, Baker E, Ruaud L, Couque N, Verloes A, Amor DJ, Morgan AT. Morison LD, et al. Among authors: amor dj. Eur J Med Genet. 2024 Apr;68:104923. doi: 10.1016/j.ejmg.2024.104923. Epub 2024 Feb 10. Eur J Med Genet. 2024. PMID: 38346666 Free article.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. Shepherdson JL, et al. Among authors: amor dj. Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007. Epub 2024 Feb 6. Am J Hum Genet. 2024. PMID: 38325380
The value of genomic testing in severe childhood speech disorders.
Meng Y, Best S, Amor DJ, Braden R, Morgan AT, Goranitis I. Meng Y, et al. Among authors: amor dj. Eur J Hum Genet. 2024 Apr;32(4):440-447. doi: 10.1038/s41431-024-01534-w. Epub 2024 Feb 2. Eur J Hum Genet. 2024. PMID: 38308083 Free PMC article.
238 results