L. Hobson

发表

Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1

Zornitza Stark, Katherine Rose, Marie Shaw, 2015, Human mutation.

FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis.

R I Richards, S. Schuffenhauer, R. Richards, 1998, Molecular cell.

Chromosomal Fragile Site FRA 16 D and DNA Instability in Cancer 1

R. Richards, M. Mangelsdorf, L. Hobson, 2000 .

Common chromosomal fragile site FRA16D mutation in cancer cells.

K. Friend, G. Chenevix-Trench, R. Richards, 2005, Human molecular genetics.

Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2.

R I Richards, M. Leppert, R. Richards, 1997, American journal of human genetics.

Human Chromosomal Fragile Site FRA16B Is an Amplified AT-Rich Minisatellite Repeat

D. Paslier, N. Doggett, R. Richards, 1997, Cell.

Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells.

R. Richards, M. Mangelsdorf, A. Gardner, 2000, Human molecular genetics.

Chromosomal fragile site FRA16D and DNA instability in cancer.

R. Richards, M. Mangelsdorf, L. Hobson, 2000, Cancer research.

O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

M. Shaw, J. Gécz, C. Schwartz, 2018, The Journal of Biological Chemistry.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

K. Friend, M. Shaw, E. Haan, 2019, Molecular Psychiatry.

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

K. Friend, I. Scheffer, M. Shaw, 2012, European Journal of Human Genetics.

Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia

Liam G. Fearnley, K. Friend, J. Kwok, 2023, Science advances.

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

K. Friend, J. Gécz, M. Stratton, 2015, Journal of Medical Genetics.

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

K. Friend, M. Shaw, J. Gécz, 2016, European Journal of Human Genetics.