Publications by authors named "Danielle Monteil"

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LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
James Chettle, Raymond J Louie, Olivia Larner, Robert Best, Kevin Chen, Danielle Monteil

HGG Adv· October 2024

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Complex genomic rearrangements of the Y chromosome in a premature infant.
Stephanie A Balow, Alyxis G Coyan, Nicki Smith, Bianca E Russell, Danielle Monteil

Mol Cytogenet· August 2024

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Progressive spasticity and developmental delay in an infant with a mutation.
Meagan Freeman, Nina Fakhori, Danielle Monteil

BMJ Case Rep· June 2024

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Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J M Dingemans, Dick Schijven, Danielle C Monteil

Genet Med· June 2022

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Health Supervision for Children and Adolescents With Down Syndrome.
Marilyn J Bull, Tracy Trotter, Stephanie L Santoro, Celanie Christensen, Randall W Grout, Danielle C Monteil

Pediatrics· May 2022

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Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Katherine A Inskeep, Yuri A Zarate, Danielle Monteil, Jurgen Spranger, Dan Doherty

Am J Med Genet A· January 2022

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Peripartum management of patient with long QT3 after successful implantable cardioverter defibrillator device discharge resulting in device failure: a case report.
Melissa J Lee, Danielle C Monteil, Michael T Spooner

Eur Heart J Case Rep· December 2021

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Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Lot Snijders Blok, Arianna Vino, Joery den Hoed, Hunter R Underhill, Danielle Monteil

Genet Med· March 2021

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TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
Chaya N Murali, Claudia Soler-Alfonso, Kathleen M Loomes, Amit A Shah, Danielle Monteil

Mol Genet Metab· February 2021

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Comparison of Evolution of Aortic Root Dilation and Ghent Criteria in Preadolescents and Adolescents with and without Marfan Syndrome.
Danielle C Monteil, Amy Shikany, Deema Aljeaid, Ashley Parrott, Justin T Tretter

J Pediatr· June 2020

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Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Danielle Monteil

Genet Med· March 2020

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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Danielle Monteil

Genet Med· February 2020

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Field template-based design and biological evaluation of new sphingosine kinase 1 inhibitors.
Heba Alshaker, Shyam Srivats, Danielle Monteil, Qi Wang, Caroline M R Low

Breast Cancer Res Treat· November 2018

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Therapeutic potential of targeting SK1 in human cancers.
Heba Alshaker, Lysann Sauer, Danielle Monteil, Silvia Ottaviani, Shyam Srivats

Adv Cancer Res· June 2013

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