H. Robinson

发表

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing

A. Offiah, R. Caswell, S. Naik, 2021, American journal of medical genetics. Part A.

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

S. Sisodiya, E. Baple, C. Inglehearn, 2022, Journal of Medical Genetics.

Fused in Sarcoma (FUS) Protein Lacking Nuclear Localization Signal (NLS) and Major RNA Binding Motifs Triggers Proteinopathy and Severe Motor Phenotype in Transgenic Mice

V. Buchman, O. Peters, A. Deykin, 2013, The Journal of Biological Chemistry.

Early lethality and neuronal proteinopathy in mice expressing cytoplasm-targeted FUS that lacks the RNA recognition motif

V. Buchman, A. Deykin, S. Bachurin, 2015, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Phenotype in Transgenic Mice Proteinopathy and Severe Motor Major RNA Binding Motifs Triggers Nuclear Localization Signal ( NLS ) and Fused in Sarcoma ( FUS ) Protein Lacking Molecular Bases of Disease :

V. Buchman, O. Peters, A. Deykin, 2013 .

Compromised paraspeckle formation as a pathogenic factor in FUSopathies

C. Troakes, V. Buchman, T. Shelkovnikova, 2013, Human molecular genetics.

Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing

H. Cox, S. Naik, H. McDermott, 2021, Neuromuscular Disorders.

Recruitment into stress granules prevents irreversible aggregation of FUS protein mislocalized to the cytoplasm

V. Buchman, Natalie Connor-Robson, T. Shelkovnikova, 2013, Cell cycle.

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

V. Lefebvre, R. Bökenkamp, D. Barge-Schaapveld, 2022, Journal of Medical Genetics.

Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy

S. Ellard, L. Mallin, M. McDonald, 2020, Clinical genetics.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

Multistep process of FUS aggregation in the cell cytoplasm involves RNA-dependent and RNA-independent mechanisms

V. Buchman, T. Shelkovnikova, N. Ninkina, 2014, Human molecular genetics.

Structural modifications of the RNA-binding protein, fused in sarcoma : implications for amyotrophic lateral sclerosis

H. Robinson, 2015 .

Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype

J. Clayton-Smith, S. Lovell, H. Stewart, 2021, American journal of medical genetics. Part A.

Dominant and recessive SLC12A2‐syndrome

K. Stals, A. McNeill, K. Rajput, 2021, American journal of medical genetics. Part A.