Publications by authors named "Julien L Marcadier"

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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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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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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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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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Fidelity of primate cell repair of a double-strand break within a (CTG).(CAG) tract. Effect of slipped DNA structures.
Julien L Marcadier, Christopher E Pearson

J Biol Chem· September 2003

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