Items where authors include "Faivre, L"

Article

Levy, MA, McConkey, H, Kerkhof, J et al. (84 more authors) (2022) Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HGG Advances, 3 (1). 100075. ISSN 2666-2477

Blok, LS, Rousseau, J, Twist, J et al. (77 more authors) (2019) Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 10. 2079. ISSN 2041-1723

Snijders Blok, L, Rousseau, J, Twist, J et al. (76 more authors) (2018) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9 (1). 4619. ISSN 2041-1723

Snijders Blok, L, Rousseau, J, Twist, J et al. (76 more authors) (2018) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9 (1). 4619. ISSN 2041-1723

Bruel, A-L, Franco, B, Duffourd, Y et al. (49 more authors) (2017) Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics, 54 (6). pp. 371-380. ISSN 0022-2593

Lambacher, NJ, Bruel, A, van Dam, TJP et al. (21 more authors) (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nature Cell Biology, 18 (1). pp. 122-131. ISSN 1465-7392

Mirzaa, GM, Parry, DA, Fry, AE et al. (31 more authors) (2014) De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics, 46 (5). pp. 510-515. ISSN 1061-4036

Bojesen, SE, Pooley, KA, Johnatty, SE et al. (442 more authors) (2013) Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nature Genetics, 45 (4). pp. 371-384. ISSN 1061-4036