Pitié-Salpêtrière University Hospital / Hôpital universitaire Pitié-Salpêtrière

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability (2021) Schalk A, Cousin MA, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, et al. Journal article Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders (2021) Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, et al. Journal article Second allogeneic transplants for multiple myeloma: a report from the EBMT Chronic Malignancies Working Party (2021) Hayden PJ, Eikema DJ, De Wreede LC, Koster L, Kroger N, Einsele H, Minnema M, et al. Journal article NanoString technology distinguishes anti-TIF-1g+from anti-Mi-2+dermatomyositis patients (2021) Preusse C, Eede P, Heinzerling L, Freitag K, Koll R, Froehlich W, Schneider U, et al. Journal article Pure large nested variant of urothelial carcinoma (Lnuc) is the prototype of an fgfr3 mutated aggressive urothelial carcinoma with luminal-papillary phenotype (2020) Weyerer V, Eckstein M, Compérat E, Juette H, Gaisa NT, Allory Y, Stöhr R, et al. Journal article Genetic and phenotypic spectrum associated with IFIH1 gain-of-function (2020) Rice G, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, et al. Journal article De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (2020) Kloeckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, et al. Journal article EANO–EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma (2019) Franceschi E, Hofer S, Brandes AA, Frappaz D, Kortmann RD, Bromberg J, Dangouloff-Ros V, et al. Journal article, Review article Biomarker-based prognosis for people with mild cognitive impairment (ABIDE): a modelling study (2019) van Maurik IS, Vos SJ, Bos I, Bouwman FH, Teunissen CE, Scheltens P, Barkhof F, et al. Journal article Fruits of Genomic Match-making: De Novo Variants in PRR12 are Associated with a Spectrum of Eye and Neurodevelopmental Anomalies (2019) Balci TB, Wang L, Lalani S, Heide S, Keren B, Mignot C, Morley G, et al. Conference contribution