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Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
Whitford W, Hawkins I, Glamuzina E, Wilson F, Marshall A, Ashton F, Love DR, Taylor J, Hill R, Lehnert K, Snell RG, Jacobsen JC. Whitford W, et al. Among authors: hill r. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a001909. doi: 10.1101/mcs.a001909. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 28696212 Free PMC article.
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: hill r. Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26. Case Rep Genet. 2015. PMID: 26587300 Free PMC article.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, … See abstract for full author list ➔ Redin C, et al. Among authors: hill r. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.
Nuclear and mitochondrial genome assemblies for the endangered wood-decaying fungus Somion occarium.
Hill R, McGowan J, Brabcová V, McTaggart S, Irish N, Barker T, Knitlhoffer V, Lucchini S, Baker K, Catchpole L, Watkins C, Gharbi K, Kaithakottil G, Tracey A, Wood JM, Tomšovský M, Baldrian P, Swarbreck D, Hall N. Hill R, et al. Genome Biol Evol. 2025 Jan 10:evaf003. doi: 10.1093/gbe/evaf003. Online ahead of print. Genome Biol Evol. 2025. PMID: 39791427 Free article.
5,494 results