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597 results

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Page 1
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB. Morton SU, et al. Among authors: christodoulou j. Neurology. 2025 Jan 14;104(1):e210106. doi: 10.1212/WNL.0000000000210106. Epub 2024 Dec 19. Neurology. 2025. PMID: 39700446
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
Morton SU, Christodoulou J, Costain G, Muntoni F, Wakeling E, Wojcik MH, French CE, Szuto A, Dowling JJ, Cohn RD, Raymond FL, Darras BT, Williams DA, Lunke S, Stark Z, Rowitch DH, Agrawal PB. Morton SU, et al. Among authors: christodoulou j. JAMA Neurol. 2022 Apr 1;79(4):405-413. doi: 10.1001/jamaneurol.2022.0067. JAMA Neurol. 2022. PMID: 35254387 Free PMC article. Review.
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z. Akesson LS, et al. Among authors: christodoulou j. Eur J Hum Genet. 2019 Dec;27(12):1821-1826. doi: 10.1038/s41431-019-0477-3. Epub 2019 Jul 29. Eur J Hum Genet. 2019. PMID: 31358953 Free PMC article.
The role of exome sequencing in childhood interstitial or diffuse lung disease.
Temple SEL, Ho G, Bennetts B, Boggs K, Vidic N, Mowat D, Christodoulou J, Schultz A, Gayagay T, Roscioli T, Zhu Y, Lunke S, Armstrong D, Harrison J, Kapur N, McDonald T, Selvadurai H, Tai A, Stark Z, Jaffe A. Temple SEL, et al. Among authors: christodoulou j. Orphanet J Rare Dis. 2022 Sep 9;17(1):350. doi: 10.1186/s13023-022-02508-1. Orphanet J Rare Dis. 2022. PMID: 36085161 Free PMC article.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
Australian Genomics Health Alliance Acute Care Flagship; Lunke S, Eggers S, Wilson M, Patel C, Barnett CP, Pinner J, Sandaradura SA, Buckley MF, Krzesinski EI, de Silva MG, Brett GR, Boggs K, Mowat D, Kirk EP, Adès LC, Akesson LS, Amor DJ, Ayres S, Baxendale A, Borrie S, Bray A, Brown NJ, Chan CY, Chong B, Cliffe C, Delatycki MB, Edwards M, Elakis G, Fahey MC, Fennell A, Fowles L, Gallacher L, Higgins M, Howell KB, Hunt L, Hunter MF, Jones KJ, King S, Kumble S, Lang S, Le Moing M, Ma A, Phelan D, Quinn MCJ, Richards A, Richmond CM, Riseley J, Rodgers J, Sachdev R, Sadedin S, Schlapbach LJ, Smith J, Springer A, Tan NB, Tan TY, Temple SL, Theda C, Vasudevan A, White SM, Yeung A, Zhu Y, Martyn M, Best S, Roscioli T, Christodoulou J, Stark Z. Australian Genomics Health Alliance Acute Care Flagship, et al. Among authors: christodoulou j. JAMA. 2020 Jun 23;323(24):2503-2511. doi: 10.1001/jama.2020.7671. JAMA. 2020. PMID: 32573669 Free PMC article.
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z. Lunke S, et al. Among authors: christodoulou j. Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8. Nat Med. 2023. PMID: 37291213 Free PMC article.
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Akesson LS, Bournazos A, Fennell A, Krzesinski EI, Tan K, Springer A, Rose K, Goranitis I, Francis D, Lee C, Faiz F, Davis MR, Christodoulou J, Lunke S, Stark Z, Hunter MF, Cooper ST. Akesson LS, et al. Among authors: christodoulou j. Hum Mutat. 2020 Nov;41(11):1884-1891. doi: 10.1002/humu.24101. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32906196
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.
Best S, Fehlberg Z, Richards C, Quinn MCJ, Lunke S, Spurdle AB, Kassahn KS, Patel C, Vears DF, Goranitis I, Lynch F, Robertson A, Tudini E, Christodoulou J, Scott H, McGaughran J, Stark Z. Best S, et al. Among authors: christodoulou j. Eur J Hum Genet. 2024 Nov;32(11):1428-1435. doi: 10.1038/s41431-024-01633-8. Epub 2024 May 25. Eur J Hum Genet. 2024. PMID: 38796577 Free PMC article.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
Cloney T, Gallacher L, Pais LS, Tan NB, Yeung A, Stark Z, Brown NJ, McGillivray G, Delatycki MB, de Silva MG, Downie L, Stutterd CA, Elliott J, Compton AG, Lovgren A, Oertel R, Francis D, Bell KM, Sadedin S, Lim SC, Helman G, Simons C, Macarthur DG, Thorburn DR, O'Donnell-Luria AH, Christodoulou J, White SM, Tan TY. Cloney T, et al. Among authors: christodoulou j. J Med Genet. 2022 Aug;59(8):748-758. doi: 10.1136/jmedgenet-2021-107902. Epub 2021 Nov 5. J Med Genet. 2022. PMID: 34740920 Free PMC article.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Van Bergen NJ, Hock DH, Spencer L, Massey S, Stait T, Stark Z, Lunke S, Roesley A, Peters H, Lee JY, Le Fevre A, Heath O, Mignone C, Yang JY, Ryan MM, D'Arcy C, Nash M, Smith S, Caruana NJ, Thorburn DR, Stroud DA, White SM, Christodoulou J, Brown NJ. Van Bergen NJ, et al. Among authors: christodoulou j. Int J Mol Sci. 2022 Jan 17;23(2):986. doi: 10.3390/ijms23020986. Int J Mol Sci. 2022. PMID: 35055180 Free PMC article.
597 results