J. Maluenda

发表

G.O.2 Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

E. Bertini, K. Pelin, M. Lek, 2014, Neuromuscular Disorders.

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.

D. Chaussabel, J. Casanova, C. Picard, 2011, The Journal of clinical investigation.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

Early-onset chronic axonal neuropathy, strokes, and hemolysis

I. Gut, J. Melki, J. Maluenda, 2015, Neurology.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.

W. Talbot, J. Melki, G. Ravenscroft, 2015, American journal of human genetics.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2015, The Journal of clinical investigation.

An Atypical Human Induced Pluripotent Stem Cell Line With a Complex, Stable, and Balanced Genomic Rearrangement Including a Large De Novo 1q Uniparental Disomy

J. Melki, J. Maluenda, L. Tosca, 2015, Stem cells translational medicine.

Detection of genetic variation and base modifications at base-pair resolution on both DNA and RNA

J. Maluenda, Jimmy Ouellet, J. Allemand, 2021, Communications Biology.

NBAS Mutations, a New Monogenic Cause of DISOPHAL, a New Syndrome with Type 1 Diabetes (T1D)

J. Melki, J. Maluenda, P. Bougnères, 2016 .

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

I. Gut, J. Melki, J. Maluenda, 2015, American journal of human genetics.

Detection of genetic variation and base modifications at base-pair resolution on both DNA and RNA

J. Maluenda, Jimmy Ouellet, J. Allemand, 2021, Communications biology.

Detecting genetic variation and base modifications together in the same single molecules of DNA and RNA at base pair resolution using a magnetic tweezer platform

J. Maluenda, Jimmy Ouellet, J. Allemand, 2020, bioRxiv.

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

M. Gut, I. Gut, J. Melki, 2016, American journal of human genetics.

Messenger RNA‐ Versus Retrovirus‐Based Induced Pluripotent Stem Cell Reprogramming Strategies: Analysis of Genomic Integrity

J. Melki, J. Maluenda, J. Marie, 2014, Stem cells translational medicine.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

B. Venkatesh, M. Gut, I. Gut, 2017, American journal of human genetics.

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.

D. Chaussabel, J. Casanova, C. Picard, 2011, The Journal of clinical investigation.

Early-onset chronic axonal neuropathy, strokes, and hemolysis

I. Gut, J. Melki, J. Maluenda, 2015, Neurology.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.