V. Bolduc

发表

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Francesco Muntoni, Daniel G. MacArthur, Konrad J. Karczewski, 2016, Science Translational Medicine.

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline high serum creatine kinase.

B. Banwell, L. Medne, C. Bönnemann, 2021, Brain : a journal of neurology.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

F. Baas, B. Brais, W. Linssen, 2010, American journal of human genetics.

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

C. Ottenheijm, C. Bönnemann, N. Laing, 2015, Annals of neurology.

Identification and characterization of an Xp22.33;Yp11.2 translocation causing a triplication of several genes of the pseudoautosomal region 1 in an XX male patient with severe systemic lupus erythematosus.

C. Perreault, R. Schneider, E. Silverman, 2006, Arthritis and rheumatism.

siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy

C. Bönnemann, V. Bolduc, Y. Zou, 2014, Molecular therapy. Nucleic acids.

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.

Jamie L. Marshall, D. MacArthur, M. Lek, 2019, Journal of neuromuscular diseases.

Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD

F. Muntoni, C. Bönnemann, Haiyan Zhou, 2020, Molecular therapy. Nucleic acids.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2019, JCI insight.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

D. Nelson, G. Herrero-Beaumont, C. Hawkins, 2019, Nature Communications.

Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs

J. Mickelson, C. Bönnemann, Ling T Guo, 2020, Neuromuscular Disorders.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

E. Malfatti, C. Ottenheijm, C. Bönnemann, 2020, American journal of human genetics.

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood

B. Brais, J. Majewski, J. Schwartzentruber, 2014, Muscle & nerve.

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans.

M. Dubé, L. Busque, P. Chagnon, 2008, The Journal of clinical investigation.

Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

T. Crawford, F. Muntoni, R. Weiss, 2015, Human mutation.

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

Beryl B. Cummings, C. Bönnemann, M. Schwake, 2021, EMBO molecular medicine.

Dominant collagen XII mutations cause a distal myopathy

R. Finkel, N. Staff, L. Medne, 2019, Annals of clinical and translational neurology.

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

I. Thiffault, J. Bouchard, B. Brais, 2007 .

Age-associated skewing of X-inactivation ratios of blood cells in normal females: a candidate-gene analysis approach.

L. Busque, P. Chagnon, S. Provost, 2005, Experimental hematology.

DOK7 mutations presenting as a proximal myopathy in French Canadians

B. Brais, Hanns Lochmüller, M. Srour, 2010, Neuromuscular Disorders.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

D. Nelson, G. Herrero-Beaumont, C. Hawkins, 2019, Nature Communications.

The UCMD-Causing COL6A1 ( c : 930 + 189 C > T ) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α 1 Chains

C. Bönnemann, E. Behrmann, R. Wagener, 2023 .