Lynne Hobson

发表

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

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

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.

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

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

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.

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.

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.

Common chromosomal fragile site FRA16D mutation in cancer cells.

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

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

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

Cancer and Dna Instability in Fra16d Chromosomal Fragile Site Updated Version Cited Articles Citing Articles E-mail Alerts Chromosomal Fragile Site Fra16d and Dna Instability in Cancer 1

R. Richards, M. Mangelsdorf, D. Venter, 2022 .

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.