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Page 1
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.
Sperelakis-Beedham B, Gitiaux C, Rajaoba M, Magen M, Derive N, Chansard J, de Sainte Agathe JM, Maurin ML, Assouline Z, Barnerias C, Desguerre I, Steffann J, Barcia G. Sperelakis-Beedham B, et al. Eur J Hum Genet. 2025 Jan;33(1):137-140. doi: 10.1038/s41431-024-01728-2. Epub 2024 Nov 4. Eur J Hum Genet. 2025. PMID: 39496895
Expanding the phenotype of GTF2E2-associated trichothiodystrophy.
Sperelakis-Beedham B, Ruaud L, Vial Y, Rachid M, Ageorges F, Goujon L, Verloes A, Tabet AC, Bourrat E, Lévy J. Sperelakis-Beedham B, et al. J Eur Acad Dermatol Venereol. 2024 Mar;38(3):e222-e226. doi: 10.1111/jdv.19545. Epub 2023 Oct 16. J Eur Acad Dermatol Venereol. 2024. PMID: 37793898 No abstract available.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Courdier C, et al. Among authors: sperelakis beedham b. Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23. Prenat Diagn. 2023. PMID: 36914926 Free article.
AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Sperelakis-Beedham B, Lopez M, Bourrat E, Gaitch N, Houriez F, Martinez B, Fajac I, Burgel PR, Hickman G, Audrézet MP, Gonde D, Cabet F, Gerfaud-Valentin M, Nove-Josserand R, Raynal C, Pagin A, Reboul MP, de Becdelièvre A, Bienvenu T, Callebaut I, Girodon E. Sperelakis-Beedham B, et al. J Eur Acad Dermatol Venereol. 2023 May;37(5):e654-e657. doi: 10.1111/jdv.18869. Epub 2023 Jan 24. J Eur Acad Dermatol Venereol. 2023. PMID: 36645858 No abstract available.
[Genetics of complex and syndromic palmoplantar keratoderma].
Sperelakis-Beedham B, Lopez M, Girodon E, Hickman G, Bourrat E, Bienvenu T. Sperelakis-Beedham B, et al. Ann Biol Clin (Paris). 2021 Dec 1;79(6):551-565. doi: 10.1684/abc.2021.1688. Ann Biol Clin (Paris). 2021. PMID: 34961738 Free article. Review. French.
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E. Sperelakis-Beedham B, et al. Mol Genet Metab. 2021 Mar;132(3):198-203. doi: 10.1016/j.ymgme.2021.01.009. Epub 2021 Jan 27. Mol Genet Metab. 2021. PMID: 33549410