Julien L. Marcadier

发表

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Peter N. Robinson, M. Reijnders, J. Hehir-Kwa, 2019, Front. Genet..

Mutations in a novel serine protease PRSS56 in families with nanophthalmos

M. Dubé, M. Matsuoka, S. Evans, 2011, Molecular vision.

Time Is of the Essence: A Young Man with Recurrent Pneumothorax and Cavitating Lung Lesions.

D. Rassl, Julien L. Marcadier, S. Marciniak, 2018, Annals of the American Thoracic Society.

A novel mutation in two Hmong families broadens the range of STRA6‐related malformations to include contractures and camptodactyly

C. Beaulieu, Julien L. Marcadier, C. Curry, 2016, American journal of medical genetics. Part A.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells.

D. Chitayat, C. E. Pearson, Julien L. Marcadier, 2003, American journal of human genetics.

New Technologies in Human Genetic Analysis

S. Bowman, M. Dubé, C. Blouin, 2007 .

Tatton‐Brown‐Rahman syndrome: Six individuals with novel features

E. Zackai, G. Wertheim, J. Maris, 2020, American journal of medical genetics. Part A.

Very Low Vitamin D in a Patient With a Novel Pathogenic Variant in the GC Gene That Encodes Vitamin D-Binding Protein

A. Hoofnagle, Julien L. Marcadier, S. Frank, 2021, Journal of the Endocrine Society.

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

S. Bowman, M. Dubé, A. Federico, 2007, PloS one.

Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation

R. Hegele, A. McIntyre, Julien L. Marcadier, 2015, Canadian Medical Association Journal.

CHAPTER 41 – Error-Prone Repair of Slipped (CTG)·(CAG) Repeats and Disease-Associated Expansions

Michelle R. Leonard, C. E. Pearson, Julien L. Marcadier, 2006 .

Fidelity of Primate Cell Repair of a Double-strand Break within a (CTG)·(CAG) Tract

C. E. Pearson, Julien L. Marcadier, 2003, Journal of Biological Chemistry.

Psychosis and autism without functional regression in a patient with Kleefstra syndrome

Julien L. Marcadier, M. A. Colijn, C. Lakusta, 2022, Psychiatric genetics.

Vitamin D–Binding Protein Deficiency and Homozygous Deletion of the GC Gene

C. Henderson, A. Hoofnagle, Julien L. Marcadier, 2019, The New England journal of medicine.

Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

M. Tarnopolsky, K. Boycott, D. Bulman, 2015, Clinical genetics.

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.

D. Bulman, C. Beaulieu, J. Majewski, 2016, JIMD reports.

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

S. Ferdinandusse, K. Boycott, D. Bulman, 2013, Orphanet Journal of Rare Diseases.

Mutations in a novel serine protease PRSS56 in families with nanophthalmos

M. Dubé, M. Matsuoka, S. Evans, 2011, Molecular vision.