Publications by Dr Marta Bertoli - ePrints

Browsing publications by Dr Marta Bertoli.

Newcastle Authors	Title	Year
Dr Marta Bertoli	Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes	2024
Dr Marta Bertoli Jessica Zambonin	The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients	2024
Laura Powell Dr Eric Olinger Dr Sarah Rice Miguel Barroso Gil Ian Wilson et al.	Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome	2021
Dr Laura Yates Dr Marta Bertoli	Nine newly identified individuals refine the phenotype associated with MYT1L mutations	2020
Dr Ana Topf Dr Katherine Johnson Adam Bates Lauren Charlotte Phillips Phillips Dr Marta Bertoli et al.	Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness	2020
Dr Marta Bertoli Dr Simon Zwolinski Dr Rhys Thomas	Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency	2020
Dr Katherine Johnson Dr Ana Topf Dr Marta Bertoli Lauren Charlotte Phillips Phillips Dr James Miller et al.	Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population	2019
Dr Marta Bertoli	Autosomal recessive primary microcephaly due to ASPM mutations: An update	2018
Dr Katherine Johnson Dr Marta Bertoli Lauren Charlotte Phillips Phillips Dr Ana Topf Roberto Fernandez-Torron et al.	Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness	2018
Dr Marta Bertoli	Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene	2018
Dr Marta Bertoli Professor Chiara Marini Bettolo Professor Hanns Lochmuller Professor Volker Straub Emerita Professor Katherine Bushby et al.	Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy	2018
Lauren Charlotte Phillips Phillips Dr Katherine Johnson Dr Marta Bertoli Professor Hanns Lochmuller Professor Volker Straub et al.	A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population	2017
Dr Lizzie Harris Dr Umar Burki Professor Chiara Marini Bettolo Dr Marta Bertoli Dr Teresinha Evangelista et al.	Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains	2017
Dr Lizzie Harris Dr Ana Topf Dr Rita Barresi Dr Debbie Hicks Dr Anna Porter et al.	Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy	2017
Dr Katherine Johnson Dr Ana Topf Dr Marta Bertoli Lauren Phillips Professor Volker Straub et al.	Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness	2017
Brid Crowley Professor Volker Straub Dr Marta Bertoli	Multidisciplinary clinics	2017
Dr Marta Bertoli Dr Anne Lampe Professor Volker Straub	Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders	2017