Publications by authors named "Julien Marcadier"

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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Samuel M Bradbrook, Gail Graham, Melissa T Carter, Maria Kibaek, Christina Fagerberg, Julien Marcadier

Am J Med Genet A· January 2026

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Exploring Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome.
Clément Sauvestre, Amel Bouchatal, Claire Beneteau, Vincent Michaud, Pierre Blanc, Julien Marcadier

Circ Genom Precis Med· December 2025

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Genome Sequencing Identifies a Heterozygous Deletion of RBFOX2 in a Family With Congenital Heart Disease: A Case Report.
Francesca Jean, Amanda Stuart, Julien Marcadier, Francois P Bernier, Ryan E Lamont

Am J Med Genet A· October 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Julien Marcadier

Nat Genet· June 2025

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Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome.
Ernesto Calderon-Martinez, Walter V Velasco, Dongchuan Guo, Ellen H Hostetler, Zhang Xun, Julien Marcadier

J Am Coll Cardiol· June 2025

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Aortic and arterial manifestations and clinical features in -related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
Michelle Su-Anne Lim, Dong-Chuan Guo, Walter Velasco Torrez, Andrew Lai, Jonathan Schweber, Julien Marcadier

J Med Genet· January 2025

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A Genotype/Phenotype Study of -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B Agrawal, Katherine Agre, Julien Marcadier

Genes (Basel)· August 2024

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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Julien Marcadier

Genet Med· August 2023

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Psychosis and autism without functional regression in a patient with Kleefstra syndrome.
Mark A Colijn, Cherelyn M Lakusta, Julien L Marcadier

Psychiatr Genet· February 2023

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Development and Evaluation of Decision Aids to Guide Families' Predictive Testing Choices for Children at Risk for Arrhythmia or Cardiomyopathy.
Susan Christian, Alicia Welsh, Jeremy Yetman, Patrician Birch, Kirsten Bartels, Julien Marcadier

Can J Cardiol· October 2021

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Early Death of 2 Siblings Related to Mutations in , a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy.
Steven C Greenway, Deborah Fruitman, Raechel Ferrier, Cathleen Huculak, Julien Marcadier

CJC Open· October 2021

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Very Low Vitamin D in a Patient With a Novel Pathogenic Variant in the Gene That Encodes Vitamin D-Binding Protein.
Ronadip R Banerjee, Tara Spence, Stuart J Frank, Raj Pandian, Andrew N Hoofnagle, Julien L Marcadier

J Endocr Soc· September 2021

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Theodore G Drivas, Dong Li, Divya Nair, Joseph T Alaimo, Mariëlle Alders, Julien L Marcadier

Eur J Hum Genet· October 2020

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Tatton-Brown-Rahman syndrome: Six individuals with novel features.
Tugce B Balci, Alana Strong, Jennifer M Kalish, Elaine Zackai, John M Maris, Julien L Marcadier

Am J Med Genet A· April 2020

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Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Christoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, Raphael A Bernier, Francois P J Bernier, Julien L Marcadier

Front Genet· July 2019

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Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene. Reply.
Hanan Bassyouni, Raymond Lewkonia, Julien L Marcadier

N Engl J Med· June 2019

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Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the Gene.
Clark M Henderson, Susan L Fink, Hanan Bassyouni, Bob Argiropoulos, Lindsay Brown, Julien L Marcadier

N Engl J Med· March 2019

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Time Is of the Essence: A Young Man with Recurrent Pneumothorax and Cavitating Lung Lesions.
Rachel Lim, Stefan J Marciniak, Julien Marcadier, Doris Rassl, Patrick D Mitchell

Ann Am Thorac Soc· August 2018

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Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Amanda Smith, Skye McBride, Julien L Marcadier, Jean Michaud, Osama Y Al-Dirbashi

JIMD Rep· June 2016

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A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
Julien L Marcadier, Alan J Mears, Elizabeth A Woods, Jamie Fisher, Cory Airheart

Am J Med Genet A· January 2016

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Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.
Julien L Marcadier, Margaret Boland, C Ronald Scott, Kheirie Issa, Zaining Wu

CMAJ· February 2015

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Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Julien L Marcadier, Amanda M Smith, Daniela Pohl, Jeremy Schwartzentruber, Osama Y Al-Dirbashi

Orphanet J Rare Dis· July 2013

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Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
Andrew Orr, Marie-Pierre Dubé, Juan C Zenteno, Haiyan Jiang, Geraldine Asselin, Julien Marcadier

Mol Vis· December 2011

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Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
Andrew Orr, Marie-Pierre Dubé, Julien Marcadier, Haiyan Jiang, Antonio Federico

PLoS One· August 2007

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Replication inhibitors modulate instability of an expanded trinucleotide repeat at the myotonic dystrophy type 1 disease locus in human cells.
Zhi Yang, Rachel Lau, Julien L Marcadier, David Chitayat, Christopher E Pearson

Am J Hum Genet· November 2003

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