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Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I. Acharya A, et al. Among authors: love dr. J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321324 Review.
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.
Boudry-Labis E, Demeer B, Le Caignec C, Isidor B, Mathieu-Dramard M, Plessis G, George AM, Taylor J, Aftimos S, Wiemer-Kruel A, Kohlhase J, Annerén G, Firth H, Simonic I, Vermeesch J, Thuresson AC, Copin H, Love DR, Andrieux J. Boudry-Labis E, et al. Among authors: love dr. Eur J Med Genet. 2013 Mar;56(3):163-70. doi: 10.1016/j.ejmg.2012.12.006. Epub 2012 Dec 29. Eur J Med Genet. 2013. PMID: 23279911
Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.
Mohammed I, Al-Khawaga S, Bohanna D, Shabani A, Khan F, Love DR, Nawaz Z, Hussain K. Mohammed I, et al. Among authors: love dr. Mol Genet Genomic Med. 2020 Jun;8(6):e1086. doi: 10.1002/mgg3.1086. Epub 2020 Apr 11. Mol Genet Genomic Med. 2020. PMID: 32277595 Free PMC article.
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.
Gardner RJM, Crozier IG, Binfield AL, Love DR, Lehnert K, Gibson K, Lintott CJ, Snell RG, Jacobsen JC, Jones PP, Waddell-Smith KE, Kennedy MA, Skinner JR. Gardner RJM, et al. Among authors: love dr. Mol Genet Genomic Med. 2019 Jan;7(1):e00476. doi: 10.1002/mgg3.476. Epub 2018 Oct 21. Mol Genet Genomic Med. 2019. PMID: 30345660 Free PMC article.
The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy.
Lahrouchi N, Raju H, Lodder EM, Papatheodorou S, Miles C, Ware JS, Papadakis M, Tadros R, Cole D, Skinner JR, Crawford J, Love DR, Pua CJ, Soh BY, Bhalshankar JD, Govind R, Tfelt-Hansen J, Winkel BG, van der Werf C, Wijeyeratne YD, Mellor G, Till J, Cohen M, Tome-Esteban M, Sharma S, Wilde AAM, Cook SA, Sheppard MN, Bezzina CR, Behr ER. Lahrouchi N, et al. Among authors: love dr. Eur J Hum Genet. 2020 Jan;28(1):17-22. doi: 10.1038/s41431-019-0500-8. Epub 2019 Sep 18. Eur J Hum Genet. 2020. PMID: 31534214 Free PMC article.
206 results