Sheffield Children's NHS Foundation Trust


Location: Sheffield, United Kingdom (GB) GB

ISNI: 0000000404639178


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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year




Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals (2022) Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, et al. Journal article ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder (2021) Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, et al. Journal article Treosulfan-fludarabine-thiotepa-based conditioning treatment before allogeneic hematopoietic stem cell transplantation for pediatric patients with hematological malignancies (2020) Kalwak K, Mielcarek M, Patrick K, Styczynski J, Bader P, Corbacioglu S, Burkhardt B, et al. Journal article CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, et al. Journal article Prospective Clinical Phase II Results on Treosulfan-Based Conditioning Treatment of 70 Paediatric Patients with Haematological Malignancies (2018) Kalwak K, Bader P, Styczynski J, Gruhn B, Patrick K, Sedlacek P, Stachel D, et al. Conference contribution De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation (2018) Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, et al. Journal article Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (2018) Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al. Journal article Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (2016) Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Al Turki SH, Thienpont B, Mcrae J, et al. Journal article