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Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data.
Mol Genet Genomic Med. 2021 Dec;9(12):e1807. doi: 10.1002/mgg3.1807. Epub 2021 Sep 7.
Mol Genet Genomic Med. 2021.
PMID: 34491624
Free PMC article.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, Ziegler A, Bonneau D, Colin E, Mercier S, Cogné B, Bézieau S, Edery P, Lesca G, Chatron N, Sabatier I, Duban-Bedu B, Colson C, Piton A, Durand B, Capri Y, Perrin L, Wiesener A, Zweier C, Maroofian R, Carroll CJ, Galehdari H, Mazaheri N, Callewaert B, Giulianno F, Zaafrane-Khachnaoui K, Buchert-Lo R, Haack T, Magg J, Rieß A, Blandfort M, Waldmüller S, Horber V, Leonardi E, Polli R, Turolla L, Murgia A, Frebourg T, Lebre AS, Nicolas G, Saugier-Veber P, Guerrot AM.
Vera G, et al. Among authors: blandfort m.
Eur J Med Genet. 2020 Oct;63(10):104004. doi: 10.1016/j.ejmg.2020.104004. Epub 2020 Jul 17.
Eur J Med Genet. 2020.
PMID: 32688057
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Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysis.
Meisen C, Higuchi M, Bräutigam S, Driesel AJ, Blandfort M, Olek K.
Meisen C, et al. Among authors: blandfort m.
Hum Genet. 1988 Jun;79(2):190-2. doi: 10.1007/BF00280565.
Hum Genet. 1988.
PMID: 2899055
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Genetic counseling in the epilepsies. I. Genetic risks.
Blandfort M, Tsuboi T, Vogel F.
Blandfort M, et al.
Hum Genet. 1987 Aug;76(4):303-31. doi: 10.1007/BF00272439.
Hum Genet. 1987.
PMID: 3301629
Review.
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Bull's eye maculopathy in cat-eye syndrome.
Steffen H, Blandfort M, Müller-Navia J, Holz FG.
Steffen H, et al. Among authors: blandfort m.
Retina. 2002 Apr;22(2):223-5. doi: 10.1097/00006982-200204000-00017.
Retina. 2002.
PMID: 11927860
No abstract available.
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